Full text data of CD151
CD151
(TSPAN24)
[Confidence: high (a blood group or CD marker)]
CD151 antigen (GP27; Membrane glycoprotein SFA-1; Platelet-endothelial tetraspan antigen 3; PETA-3; Tetraspanin-24; Tspan-24; CD151)
CD151 antigen (GP27; Membrane glycoprotein SFA-1; Platelet-endothelial tetraspan antigen 3; PETA-3; Tetraspanin-24; Tspan-24; CD151)
BGMUT
raph
759 raph CD151 CD151 383insG MER2 383insG 383insG (exon 5) K127fs + 140X 8 exons MER2 negative with renal failure rare 15265795 Crew et al. Blood. 2004. 104 2217-2223 Blumenfeld OO,curator Blumenfeld OO,curator 2008-09-30 19:18:02.623 NA
759 raph CD151 CD151 383insG MER2 383insG 383insG (exon 5) K127fs + 140X 8 exons MER2 negative with renal failure rare 15265795 Crew et al. Blood. 2004. 104 2217-2223 Blumenfeld OO,curator Blumenfeld OO,curator 2008-09-30 19:18:02.623 NA
UniProt
P48509
ID CD151_HUMAN Reviewed; 253 AA.
AC P48509; A8KAK8; E9PI15; Q14826; Q86U54; Q96TE3;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 24-JAN-2006, sequence version 3.
DT 22-JAN-2014, entry version 127.
DE RecName: Full=CD151 antigen;
DE AltName: Full=GP27;
DE AltName: Full=Membrane glycoprotein SFA-1;
DE AltName: Full=Platelet-endothelial tetraspan antigen 3;
DE Short=PETA-3;
DE AltName: Full=Tetraspanin-24;
DE Short=Tspan-24;
DE AltName: CD_antigen=CD151;
GN Name=CD151; Synonyms=TSPAN24;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Platelet;
RX PubMed=7632941;
RA Fitter S., Tetaz T.J., Berndt M.C., Ashman L.K.;
RT "Molecular cloning of cDNA encoding a novel platelet-endothelial cell
RT tetra-span antigen, PETA-3.";
RL Blood 86:1348-1355(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS ARG-132 AND SER-137.
RX PubMed=8627808;
RA Hasegawa H., Utsunomiya Y., Kishimoto K., Yanagisawa K., Fujita S.;
RT "SFA-1, a novel cellular gene induced by human T-cell leukemia virus
RT type 1, is a member of the transmembrane 4 superfamily.";
RL J. Virol. 70:3258-3263(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-132 AND SER-137.
RX PubMed=11181065; DOI=10.1006/bbrc.2001.4384;
RA Whittock N.V., McLean W.H.I.;
RT "Genomic organization, amplification, fine mapping, and intragenic
RT polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.";
RL Biochem. Biophys. Res. Commun. 281:425-430(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S.,
RA Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W.,
RA Korn B., Zuo D., Hu Y., LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-120.
RG SeattleSNPs variation discovery resource;
RL Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [12]
RP PALMITOYLATION AT CYS-11; CYS-15; CYS-242 AND CYS-243.
RX PubMed=11907260; DOI=10.1091/mbc.01-05-0275;
RA Yang X., Claas C., Kraeft S.K., Chen L.B., Wang Z., Kreidberg J.A.,
RA Hemler M.E.;
RT "Palmitoylation of tetraspanin proteins: modulation of CD151 lateral
RT interactions, subcellular distribution, and integrin-dependent cell
RT morphology.";
RL Mol. Biol. Cell 13:767-781(2002).
RN [13]
RP FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN RAPH BLOOD GROUP SYSTEM,
RP INVOLVEMENT IN NPEBD, AND VARIANT HIS-178.
RX PubMed=15265795; DOI=10.1182/blood-2004-04-1512;
RA Karamatic Crew V., Burton N., Kagan A., Green C.A., Levene C.,
RA Flinter F., Brady R.L., Daniels G., Anstee D.J.;
RT "CD151, the first member of the tetraspanin (TM4) superfamily detected
RT on erythrocytes, is essential for the correct assembly of human
RT basement membranes in kidney and skin.";
RL Blood 104:2217-2223(2004).
RN [14]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Essential for the proper assembly of the glomerular and
CC tubular basement membranes in kidney.
CC -!- SUBUNIT: Interacts with integrins alpha3beta1, alpha5beta1,
CC alpha3beta1 and alpha6beta4, with CD9 and CD181.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Expressed in a variety of tissues including
CC vascular endothelium and epidermis. Expressed on erythroid cells,
CC with a higher level of expression in erythroid precursors than on
CC mature erythrocytes.
CC -!- INDUCTION: By HTLV-1.
CC -!- POLYMORPHISM: CD151 defines the MER2=RAPH1 antigen of the RAPH
CC blood group system. 92% of Caucasians are MER2-positive and 8% are
CC apparently MER2-negative.
CC -!- DISEASE: Nephropathy with pretibial epidermolysis bullosa and
CC deafness (NPEBD) [MIM:609057]: A disorder characterized by the
CC association of hereditary nephritis, epidermolysis bullosa,
CC deafness, and beta-thalassemia minor. Note=The disease is caused
CC by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the tetraspanin (TM4SF) family.
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
CC mutation database;
CC URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system;=raph";
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/cd151/";
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/CD151ID967ch11p15.html";
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DR EMBL; U14650; AAA87064.1; -; mRNA.
DR EMBL; D29963; BAA06229.1; -; mRNA.
DR EMBL; AF315942; AAK14179.1; -; Genomic_DNA.
DR EMBL; BT007397; AAP36061.1; -; mRNA.
DR EMBL; BT020132; AAV38934.1; -; mRNA.
DR EMBL; CR456826; CAG33107.1; -; mRNA.
DR EMBL; CR542098; CAG46895.1; -; mRNA.
DR EMBL; AK293073; BAF85762.1; -; mRNA.
DR EMBL; DQ074789; AAY68211.1; -; Genomic_DNA.
DR EMBL; AP006621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP006623; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471158; EAX02400.1; -; Genomic_DNA.
DR EMBL; BC001374; AAH01374.1; -; mRNA.
DR EMBL; BC013302; AAH13302.1; -; mRNA.
DR RefSeq; NP_001034579.1; NM_001039490.1.
DR RefSeq; NP_004348.2; NM_004357.4.
DR RefSeq; NP_620598.1; NM_139029.1.
DR RefSeq; NP_620599.1; NM_139030.3.
DR UniGene; Hs.654379; -.
DR ProteinModelPortal; P48509; -.
DR STRING; 9606.ENSP00000324101; -.
DR PhosphoSite; P48509; -.
DR DMDM; 85687560; -.
DR PaxDb; P48509; -.
DR PeptideAtlas; P48509; -.
DR PRIDE; P48509; -.
DR DNASU; 977; -.
DR Ensembl; ENST00000322008; ENSP00000324101; ENSG00000177697.
DR Ensembl; ENST00000397420; ENSP00000380565; ENSG00000177697.
DR Ensembl; ENST00000397421; ENSP00000380566; ENSG00000177697.
DR Ensembl; ENST00000530726; ENSP00000432385; ENSG00000177697.
DR GeneID; 977; -.
DR KEGG; hsa:977; -.
DR UCSC; uc001lry.3; human.
DR CTD; 977; -.
DR GeneCards; GC11P000835; -.
DR HGNC; HGNC:1630; CD151.
DR HPA; CAB002428; -.
DR HPA; HPA011906; -.
DR MIM; 179620; phenotype.
DR MIM; 602243; gene.
DR MIM; 609057; phenotype.
DR neXtProt; NX_P48509; -.
DR Orphanet; 300333; Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome.
DR PharmGKB; PA26189; -.
DR eggNOG; NOG281510; -.
DR HOGENOM; HOG000230651; -.
DR HOVERGEN; HBG107306; -.
DR InParanoid; P48509; -.
DR KO; K06537; -.
DR OMA; CKTVVAG; -.
DR OrthoDB; EOG7PGDRZ; -.
DR PhylomeDB; P48509; -.
DR Reactome; REACT_111155; Cell-Cell communication.
DR Reactome; REACT_118779; Extracellular matrix organization.
DR ChiTaRS; CD151; human.
DR GeneWiki; CD151; -.
DR GenomeRNAi; 977; -.
DR NextBio; 4102; -.
DR PRO; PR:P48509; -.
DR ArrayExpress; P48509; -.
DR Bgee; P48509; -.
DR CleanEx; HS_CD151; -.
DR Genevestigator; P48509; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; NAS:ProtInc.
DR GO; GO:0016477; P:cell migration; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; TAS:Reactome.
DR GO; GO:0031581; P:hemidesmosome assembly; TAS:Reactome.
DR GO; GO:0042098; P:T cell proliferation; IEA:Ensembl.
DR InterPro; IPR000301; Tetraspanin.
DR InterPro; IPR018499; Tetraspanin/Peripherin.
DR InterPro; IPR018503; Tetraspanin_CS.
DR InterPro; IPR008952; Tetraspanin_EC2.
DR Pfam; PF00335; Tetraspannin; 1.
DR PIRSF; PIRSF002419; Tetraspanin; 1.
DR PRINTS; PR00259; TMFOUR.
DR SUPFAM; SSF48652; SSF48652; 1.
DR PROSITE; PS00421; TM4_1; 1.
PE 1: Evidence at protein level;
KW Blood group antigen; Complete proteome; Deafness;
KW Epidermolysis bullosa; Glycoprotein; Lipoprotein; Membrane; Palmitate;
KW Polymorphism; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 253 CD151 antigen.
FT /FTId=PRO_0000219230.
FT TOPO_DOM 1 18 Cytoplasmic (Potential).
FT TRANSMEM 19 39 Helical; (Potential).
FT TOPO_DOM 40 57 Extracellular (Potential).
FT TRANSMEM 58 78 Helical; (Potential).
FT TOPO_DOM 79 91 Cytoplasmic (Potential).
FT TRANSMEM 92 112 Helical; (Potential).
FT TOPO_DOM 113 221 Extracellular (Potential).
FT TRANSMEM 222 242 Helical; (Potential).
FT TOPO_DOM 243 253 Cytoplasmic (Potential).
FT LIPID 11 11 S-palmitoyl cysteine.
FT LIPID 15 15 S-palmitoyl cysteine.
FT LIPID 242 242 S-palmitoyl cysteine.
FT LIPID 243 243 S-palmitoyl cysteine.
FT CARBOHYD 159 159 N-linked (GlcNAc...) (Potential).
FT VARIANT 120 120 T -> M (in dbSNP:rs34215390).
FT /FTId=VAR_025098.
FT VARIANT 132 132 K -> R (in dbSNP:rs55840993).
FT /FTId=VAR_012490.
FT VARIANT 137 137 P -> S (in dbSNP:rs55841393).
FT /FTId=VAR_012491.
FT VARIANT 178 178 R -> H.
FT /FTId=VAR_021153.
SQ SEQUENCE 253 AA; 28295 MW; 0C8FE4CF2C3C286D CRC64;
MGEFNEKKTT CGTVCLKYLL FTYNCCFWLA GLAVMAVGIW TLALKSDYIS LLASGTYLAT
AYILVVAGTV VMVTGVLGCC ATFKERRNLL RLYFILLLII FLLEIIAGIL AYAYYQQLNT
ELKENLKDTM TKRYHQPGHE AVTSAVDQLQ QEFHCCGSNN SQDWRDSEWI RSQEAGGRVV
PDSCCKTVVA LCGQRDHASN IYKVEGGCIT KLETFIQEHL RVIGAVGIGI ACVQVFGMIF
TCCLYRSLKL EHY
//
ID CD151_HUMAN Reviewed; 253 AA.
AC P48509; A8KAK8; E9PI15; Q14826; Q86U54; Q96TE3;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
read moreDT 24-JAN-2006, sequence version 3.
DT 22-JAN-2014, entry version 127.
DE RecName: Full=CD151 antigen;
DE AltName: Full=GP27;
DE AltName: Full=Membrane glycoprotein SFA-1;
DE AltName: Full=Platelet-endothelial tetraspan antigen 3;
DE Short=PETA-3;
DE AltName: Full=Tetraspanin-24;
DE Short=Tspan-24;
DE AltName: CD_antigen=CD151;
GN Name=CD151; Synonyms=TSPAN24;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RC TISSUE=Platelet;
RX PubMed=7632941;
RA Fitter S., Tetaz T.J., Berndt M.C., Ashman L.K.;
RT "Molecular cloning of cDNA encoding a novel platelet-endothelial cell
RT tetra-span antigen, PETA-3.";
RL Blood 86:1348-1355(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND VARIANTS ARG-132 AND SER-137.
RX PubMed=8627808;
RA Hasegawa H., Utsunomiya Y., Kishimoto K., Yanagisawa K., Fujita S.;
RT "SFA-1, a novel cellular gene induced by human T-cell leukemia virus
RT type 1, is a member of the transmembrane 4 superfamily.";
RL J. Virol. 70:3258-3263(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-132 AND SER-137.
RX PubMed=11181065; DOI=10.1006/bbrc.2001.4384;
RA Whittock N.V., McLean W.H.I.;
RT "Genomic organization, amplification, fine mapping, and intragenic
RT polymorphisms of the human hemidesmosomal tetraspanin CD151 gene.";
RL Biochem. Biophys. Res. Commun. 281:425-430(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S.,
RA Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W.,
RA Korn B., Zuo D., Hu Y., LaBaer J.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT MET-120.
RG SeattleSNPs variation discovery resource;
RL Submitted (MAY-2005) to the EMBL/GenBank/DDBJ databases.
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Colon, and Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [12]
RP PALMITOYLATION AT CYS-11; CYS-15; CYS-242 AND CYS-243.
RX PubMed=11907260; DOI=10.1091/mbc.01-05-0275;
RA Yang X., Claas C., Kraeft S.K., Chen L.B., Wang Z., Kreidberg J.A.,
RA Hemler M.E.;
RT "Palmitoylation of tetraspanin proteins: modulation of CD151 lateral
RT interactions, subcellular distribution, and integrin-dependent cell
RT morphology.";
RL Mol. Biol. Cell 13:767-781(2002).
RN [13]
RP FUNCTION, TISSUE SPECIFICITY, INVOLVEMENT IN RAPH BLOOD GROUP SYSTEM,
RP INVOLVEMENT IN NPEBD, AND VARIANT HIS-178.
RX PubMed=15265795; DOI=10.1182/blood-2004-04-1512;
RA Karamatic Crew V., Burton N., Kagan A., Green C.A., Levene C.,
RA Flinter F., Brady R.L., Daniels G., Anstee D.J.;
RT "CD151, the first member of the tetraspanin (TM4) superfamily detected
RT on erythrocytes, is essential for the correct assembly of human
RT basement membranes in kidney and skin.";
RL Blood 104:2217-2223(2004).
RN [14]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Essential for the proper assembly of the glomerular and
CC tubular basement membranes in kidney.
CC -!- SUBUNIT: Interacts with integrins alpha3beta1, alpha5beta1,
CC alpha3beta1 and alpha6beta4, with CD9 and CD181.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Expressed in a variety of tissues including
CC vascular endothelium and epidermis. Expressed on erythroid cells,
CC with a higher level of expression in erythroid precursors than on
CC mature erythrocytes.
CC -!- INDUCTION: By HTLV-1.
CC -!- POLYMORPHISM: CD151 defines the MER2=RAPH1 antigen of the RAPH
CC blood group system. 92% of Caucasians are MER2-positive and 8% are
CC apparently MER2-negative.
CC -!- DISEASE: Nephropathy with pretibial epidermolysis bullosa and
CC deafness (NPEBD) [MIM:609057]: A disorder characterized by the
CC association of hereditary nephritis, epidermolysis bullosa,
CC deafness, and beta-thalassemia minor. Note=The disease is caused
CC by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the tetraspanin (TM4SF) family.
CC -!- WEB RESOURCE: Name=dbRBC/BGMUT; Note=Blood group antigen gene
CC mutation database;
CC URL="http://www.ncbi.nlm.nih.gov/gv/mhc/xslcgi.cgi?cmd=bgmut/systems_info&system;=raph";
CC -!- WEB RESOURCE: Name=SeattleSNPs;
CC URL="http://pga.gs.washington.edu/data/cd151/";
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/CD151ID967ch11p15.html";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; U14650; AAA87064.1; -; mRNA.
DR EMBL; D29963; BAA06229.1; -; mRNA.
DR EMBL; AF315942; AAK14179.1; -; Genomic_DNA.
DR EMBL; BT007397; AAP36061.1; -; mRNA.
DR EMBL; BT020132; AAV38934.1; -; mRNA.
DR EMBL; CR456826; CAG33107.1; -; mRNA.
DR EMBL; CR542098; CAG46895.1; -; mRNA.
DR EMBL; AK293073; BAF85762.1; -; mRNA.
DR EMBL; DQ074789; AAY68211.1; -; Genomic_DNA.
DR EMBL; AP006621; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP006623; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471158; EAX02400.1; -; Genomic_DNA.
DR EMBL; BC001374; AAH01374.1; -; mRNA.
DR EMBL; BC013302; AAH13302.1; -; mRNA.
DR RefSeq; NP_001034579.1; NM_001039490.1.
DR RefSeq; NP_004348.2; NM_004357.4.
DR RefSeq; NP_620598.1; NM_139029.1.
DR RefSeq; NP_620599.1; NM_139030.3.
DR UniGene; Hs.654379; -.
DR ProteinModelPortal; P48509; -.
DR STRING; 9606.ENSP00000324101; -.
DR PhosphoSite; P48509; -.
DR DMDM; 85687560; -.
DR PaxDb; P48509; -.
DR PeptideAtlas; P48509; -.
DR PRIDE; P48509; -.
DR DNASU; 977; -.
DR Ensembl; ENST00000322008; ENSP00000324101; ENSG00000177697.
DR Ensembl; ENST00000397420; ENSP00000380565; ENSG00000177697.
DR Ensembl; ENST00000397421; ENSP00000380566; ENSG00000177697.
DR Ensembl; ENST00000530726; ENSP00000432385; ENSG00000177697.
DR GeneID; 977; -.
DR KEGG; hsa:977; -.
DR UCSC; uc001lry.3; human.
DR CTD; 977; -.
DR GeneCards; GC11P000835; -.
DR HGNC; HGNC:1630; CD151.
DR HPA; CAB002428; -.
DR HPA; HPA011906; -.
DR MIM; 179620; phenotype.
DR MIM; 602243; gene.
DR MIM; 609057; phenotype.
DR neXtProt; NX_P48509; -.
DR Orphanet; 300333; Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome.
DR PharmGKB; PA26189; -.
DR eggNOG; NOG281510; -.
DR HOGENOM; HOG000230651; -.
DR HOVERGEN; HBG107306; -.
DR InParanoid; P48509; -.
DR KO; K06537; -.
DR OMA; CKTVVAG; -.
DR OrthoDB; EOG7PGDRZ; -.
DR PhylomeDB; P48509; -.
DR Reactome; REACT_111155; Cell-Cell communication.
DR Reactome; REACT_118779; Extracellular matrix organization.
DR ChiTaRS; CD151; human.
DR GeneWiki; CD151; -.
DR GenomeRNAi; 977; -.
DR NextBio; 4102; -.
DR PRO; PR:P48509; -.
DR ArrayExpress; P48509; -.
DR Bgee; P48509; -.
DR CleanEx; HS_CD151; -.
DR Genevestigator; P48509; -.
DR GO; GO:0005829; C:cytosol; TAS:Reactome.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0007155; P:cell adhesion; NAS:ProtInc.
DR GO; GO:0016477; P:cell migration; IEA:Ensembl.
DR GO; GO:0030198; P:extracellular matrix organization; TAS:Reactome.
DR GO; GO:0031581; P:hemidesmosome assembly; TAS:Reactome.
DR GO; GO:0042098; P:T cell proliferation; IEA:Ensembl.
DR InterPro; IPR000301; Tetraspanin.
DR InterPro; IPR018499; Tetraspanin/Peripherin.
DR InterPro; IPR018503; Tetraspanin_CS.
DR InterPro; IPR008952; Tetraspanin_EC2.
DR Pfam; PF00335; Tetraspannin; 1.
DR PIRSF; PIRSF002419; Tetraspanin; 1.
DR PRINTS; PR00259; TMFOUR.
DR SUPFAM; SSF48652; SSF48652; 1.
DR PROSITE; PS00421; TM4_1; 1.
PE 1: Evidence at protein level;
KW Blood group antigen; Complete proteome; Deafness;
KW Epidermolysis bullosa; Glycoprotein; Lipoprotein; Membrane; Palmitate;
KW Polymorphism; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 253 CD151 antigen.
FT /FTId=PRO_0000219230.
FT TOPO_DOM 1 18 Cytoplasmic (Potential).
FT TRANSMEM 19 39 Helical; (Potential).
FT TOPO_DOM 40 57 Extracellular (Potential).
FT TRANSMEM 58 78 Helical; (Potential).
FT TOPO_DOM 79 91 Cytoplasmic (Potential).
FT TRANSMEM 92 112 Helical; (Potential).
FT TOPO_DOM 113 221 Extracellular (Potential).
FT TRANSMEM 222 242 Helical; (Potential).
FT TOPO_DOM 243 253 Cytoplasmic (Potential).
FT LIPID 11 11 S-palmitoyl cysteine.
FT LIPID 15 15 S-palmitoyl cysteine.
FT LIPID 242 242 S-palmitoyl cysteine.
FT LIPID 243 243 S-palmitoyl cysteine.
FT CARBOHYD 159 159 N-linked (GlcNAc...) (Potential).
FT VARIANT 120 120 T -> M (in dbSNP:rs34215390).
FT /FTId=VAR_025098.
FT VARIANT 132 132 K -> R (in dbSNP:rs55840993).
FT /FTId=VAR_012490.
FT VARIANT 137 137 P -> S (in dbSNP:rs55841393).
FT /FTId=VAR_012491.
FT VARIANT 178 178 R -> H.
FT /FTId=VAR_021153.
SQ SEQUENCE 253 AA; 28295 MW; 0C8FE4CF2C3C286D CRC64;
MGEFNEKKTT CGTVCLKYLL FTYNCCFWLA GLAVMAVGIW TLALKSDYIS LLASGTYLAT
AYILVVAGTV VMVTGVLGCC ATFKERRNLL RLYFILLLII FLLEIIAGIL AYAYYQQLNT
ELKENLKDTM TKRYHQPGHE AVTSAVDQLQ QEFHCCGSNN SQDWRDSEWI RSQEAGGRVV
PDSCCKTVVA LCGQRDHASN IYKVEGGCIT KLETFIQEHL RVIGAVGIGI ACVQVFGMIF
TCCLYRSLKL EHY
//
MIM
179620
*RECORD*
*FIELD* NO
179620
*FIELD* TI
#179620 RAPH BLOOD GROUP SYSTEM
;;MER2 BLOOD CELL ANTIGEN EXPRESSION; MER2
*FIELD* TX
read moreA number sign (#) is used with this entry because of evidence that the
MER2 (RAPH) blood group antigen is determined by an epitope on the CD151
tetraspanin protein (602243).
Among the surprisingly large number of cell surface antigens that are
coded by genes on chromosome 11, 3 are found on erythrocytes: S1
(151250), S3, and MER2. The last was identified by means of a murine
monoclonal antibody and was named for the Eleanor Roosevelt Institute of
Cancer Research in Denver where it was discovered (Daniels et al.,
1987); MER stands for 'monoclonal Eleanor Roosevelt.' Among English
blood donors, 92% were found to be MER2+, giving a gene frequency for
the MER2+ allele of 0.7159. Family studies showed that MER2+ is
inherited as an autosomal dominant and is independent of any of the main
blood group loci.
Daniels et al. (1988) found 3 examples of an antibody detecting a red
cell polymorphism probably identical to MER2. The antibodies were made
by Jews originating from India and living in Israel. Two of them were
sibs and the third was unrelated. All 3 had kidney disease requiring
renal dialysis and regular blood transfusion. In 2 cases the antibodies
were detected before dialysis was started and before the patients had
been transfused. The human antibodies reacted with red cells in 90% of
Israeli blood donors tested. In tests on selected blood donors, 82
English and 56 Israeli, 1 of the human antibodies gave almost identical
reactions to those given by monoclonal anti-MER2.
Kagan et al. (1988) described the association of nephritis and pretibial
epidermolysis bullosa in the 2 MER2-negative sibs who had end-stage
renal disease (609057) (Daniels et al., 1988; Kagan et al., 1988).
Karamatic Crew et al. (2004) showed that all 3 MER2-negative individuals
were homozygous for a single-nucleotide insertion (G383) in exon 5 of
CD151, causing a frameshift and a premature stop signal in codon 140
(602243.0001). The 3 MER2-negative individuals also had deafness and
beta-thalassemia minor. The findings suggested that CD151, which is
labeled by the MER2 epitope, is essential for the proper assembly of the
glomerular and tubular basement membrane in kidney, has functional
significance in the skin, is probably a component of the inner ear, and
could play a role in erythropoiesis.
Verhoeven et al. (1998) found an allo-anti-MER2 in a healthy female
blood donor. The subject was a 30-year-old healthy Turkish female who
had no history of kidney disease and had never been transfused but had
had 2 pregnancies. The donor cells were negative for both monoclonal and
polyclonal anti-MER2. The cells of her husband, mother, and brother were
incompatible.
MAPPING
Daniels et al. (1987) assigned the MER2 locus to 11p15 by study of
somatic cell hybrids. The CD151 tetraspanin protein (602243), which
carries the MER2 blood group specificity, maps to 11p15.5.
*FIELD* RF
1. Daniels, G. L.; Levene, C.; Berrebi, A.; Schechter, Y.; Moulds,
M.; Sela, R.; Poole, J.; Lacey, P.; Atkins, C. J.: Human alloantibodies
detecting a red cell antigen apparently identical to MER2. Vox Sang 55:
161-164, 1988.
2. Daniels, G. L.; Tippett, P.; Palmer, D. K.; Miller, Y. E.; Geyer,
D.; Jones, C.: MER2: a red cell polymorphism defined by monoclonal
antibodies. Vox Sang. 52: 107-110, 1987.
3. Kagan, A.; Feld, S.; Chemke, J.; Bar-Khayim, Y.: Occurrence of
hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia
minor in two siblings with end-stage renal disease. (Letter) Nephron 49:
331-332, 1988.
4. Karamatic Crew, V.; Burton, N.; Kagan, A.; Green, C. A.; Levene,
C.; Flinter, F.; Brady, R. L.; Daniels, G.; Anstee, D. J.: CD151,
the first member of the tetraspanin (TM4) superfamily detected on
erythrocytes, is essential for the correct assembly of human basement
membranes in kidney and skin. Blood 104: 2217-2223, 2004.
5. Verhoeven, G.; Schaap, R. C.; Champagne, K.; Poole, J.; Overbeeke,
M.: The first allo-anti MER2 found in a healthy female blood donor.
(Abstract) Vox Sang. 74: 1439, 1998.
*FIELD* CN
Victor A. McKusick - updated: 11/15/2004
*FIELD* CD
Victor A. McKusick: 3/8/1988
*FIELD* ED
alopez: 12/06/2004
alopez: 11/30/2004
terry: 11/15/2004
joanna: 11/8/2004
dkim: 7/24/1998
mimadm: 3/25/1995
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
marie: 3/25/1988
marie: 3/8/1988
*RECORD*
*FIELD* NO
179620
*FIELD* TI
#179620 RAPH BLOOD GROUP SYSTEM
;;MER2 BLOOD CELL ANTIGEN EXPRESSION; MER2
*FIELD* TX
read moreA number sign (#) is used with this entry because of evidence that the
MER2 (RAPH) blood group antigen is determined by an epitope on the CD151
tetraspanin protein (602243).
Among the surprisingly large number of cell surface antigens that are
coded by genes on chromosome 11, 3 are found on erythrocytes: S1
(151250), S3, and MER2. The last was identified by means of a murine
monoclonal antibody and was named for the Eleanor Roosevelt Institute of
Cancer Research in Denver where it was discovered (Daniels et al.,
1987); MER stands for 'monoclonal Eleanor Roosevelt.' Among English
blood donors, 92% were found to be MER2+, giving a gene frequency for
the MER2+ allele of 0.7159. Family studies showed that MER2+ is
inherited as an autosomal dominant and is independent of any of the main
blood group loci.
Daniels et al. (1988) found 3 examples of an antibody detecting a red
cell polymorphism probably identical to MER2. The antibodies were made
by Jews originating from India and living in Israel. Two of them were
sibs and the third was unrelated. All 3 had kidney disease requiring
renal dialysis and regular blood transfusion. In 2 cases the antibodies
were detected before dialysis was started and before the patients had
been transfused. The human antibodies reacted with red cells in 90% of
Israeli blood donors tested. In tests on selected blood donors, 82
English and 56 Israeli, 1 of the human antibodies gave almost identical
reactions to those given by monoclonal anti-MER2.
Kagan et al. (1988) described the association of nephritis and pretibial
epidermolysis bullosa in the 2 MER2-negative sibs who had end-stage
renal disease (609057) (Daniels et al., 1988; Kagan et al., 1988).
Karamatic Crew et al. (2004) showed that all 3 MER2-negative individuals
were homozygous for a single-nucleotide insertion (G383) in exon 5 of
CD151, causing a frameshift and a premature stop signal in codon 140
(602243.0001). The 3 MER2-negative individuals also had deafness and
beta-thalassemia minor. The findings suggested that CD151, which is
labeled by the MER2 epitope, is essential for the proper assembly of the
glomerular and tubular basement membrane in kidney, has functional
significance in the skin, is probably a component of the inner ear, and
could play a role in erythropoiesis.
Verhoeven et al. (1998) found an allo-anti-MER2 in a healthy female
blood donor. The subject was a 30-year-old healthy Turkish female who
had no history of kidney disease and had never been transfused but had
had 2 pregnancies. The donor cells were negative for both monoclonal and
polyclonal anti-MER2. The cells of her husband, mother, and brother were
incompatible.
MAPPING
Daniels et al. (1987) assigned the MER2 locus to 11p15 by study of
somatic cell hybrids. The CD151 tetraspanin protein (602243), which
carries the MER2 blood group specificity, maps to 11p15.5.
*FIELD* RF
1. Daniels, G. L.; Levene, C.; Berrebi, A.; Schechter, Y.; Moulds,
M.; Sela, R.; Poole, J.; Lacey, P.; Atkins, C. J.: Human alloantibodies
detecting a red cell antigen apparently identical to MER2. Vox Sang 55:
161-164, 1988.
2. Daniels, G. L.; Tippett, P.; Palmer, D. K.; Miller, Y. E.; Geyer,
D.; Jones, C.: MER2: a red cell polymorphism defined by monoclonal
antibodies. Vox Sang. 52: 107-110, 1987.
3. Kagan, A.; Feld, S.; Chemke, J.; Bar-Khayim, Y.: Occurrence of
hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia
minor in two siblings with end-stage renal disease. (Letter) Nephron 49:
331-332, 1988.
4. Karamatic Crew, V.; Burton, N.; Kagan, A.; Green, C. A.; Levene,
C.; Flinter, F.; Brady, R. L.; Daniels, G.; Anstee, D. J.: CD151,
the first member of the tetraspanin (TM4) superfamily detected on
erythrocytes, is essential for the correct assembly of human basement
membranes in kidney and skin. Blood 104: 2217-2223, 2004.
5. Verhoeven, G.; Schaap, R. C.; Champagne, K.; Poole, J.; Overbeeke,
M.: The first allo-anti MER2 found in a healthy female blood donor.
(Abstract) Vox Sang. 74: 1439, 1998.
*FIELD* CN
Victor A. McKusick - updated: 11/15/2004
*FIELD* CD
Victor A. McKusick: 3/8/1988
*FIELD* ED
alopez: 12/06/2004
alopez: 11/30/2004
terry: 11/15/2004
joanna: 11/8/2004
dkim: 7/24/1998
mimadm: 3/25/1995
supermim: 3/16/1992
supermim: 3/20/1990
ddp: 10/27/1989
marie: 3/25/1988
marie: 3/8/1988
MIM
602243
*RECORD*
*FIELD* NO
602243
*FIELD* TI
*602243 CD151 ANTIGEN; CD151
;;PLATELET-ENDOTHELIAL CELL TETRASPANIN ANTIGEN 3; PETA3;;
read moreSFA1;;
RED BLOOD CELL ANTIGEN MER 2; MER2
*FIELD* TX
CLONING
Transmembrane 4 (4TM) superfamily proteins are membrane proteins with 4
conserved transmembrane domains. Fitter et al. (1995) showed that the
platelet surface glycoprotein gp27 identified by Ashman et al. (1991) is
a member of this group. Fitter et al. (1995) cloned the gp27 gene,
designated PETA3 by them, by sequencing purified protein and using the
resulting probes in RT-PCR to obtain a cDNA from megakaryoblastic cells.
Fitter et al. (1995) assigned this 253-amino acid protein to the 4TM
group because it has 4 predicted hydrophobic regions and 30% homology to
other members of the group. Northern blot analysis showed that PETA3 is
expressed in most tissues, but not in brain. Hasegawa et al. (1996)
cloned the same gene, which they named SFA1, during a screen for genes
induced by HTLV-1 transformation in T cells. The 62-bp difference
between the 5-prime untranslated regions of the PETA3 and SFA1 cDNAs was
ascribed to alternative splicing in an erratum to Hasegawa et al.
(1996).
Bill et al. (1987) cloned the MER2 (179620) gene using a strategy that
involved cotransfection of resistance to an antibiotic.
GENE FUNCTION
Hemidesmosomes are specialized junctional complexes that function as
cell-attachment sites for binding to basement membranes. They appear as
electron-dense structures, resembling half a desmosome. Alpha-6 (ITGA6;
147556)/beta-4 (ITGB4; 147557) integrin is a major component of
hemidesmosomes. In addition to ITGA6/ITGB4, classic type I
hemidesmosomes contain BP180 (COL17A1; 113811) and BP230 (BPAG1;
113810), while type II hemidesmosomes, which are found in cylindrical
epithelia, contain plectin (601282). Using immunohistochemistry and
immunoelectron microscopy, Sterk et al. (2000) identified CD151, but not
the tetraspanins CD9 (143030) or CD81 (186845), codistributed with
ITGA6/ITGB4 in hemidesmosomes but not desmosomes at the basolateral
surfaces of basal keratinocytes. Immunoprecipitation and immunoblot
analysis showed that CD151 associates with ITGA6/ITGB4 and with ITGA3
(605025)/ITGB1 (135630), but not with ITGA5 (135620)/ITGB1. In pyloric
atresia-junctional epidermolysis bullosa (PA-JEB; 226730) cells lacking
ITGB4 (thus lacking hemidesmosomes), CD151 colocalized with ITGA3/ITGB1.
Expression of ITGB4 in PA-JEB cells induced surface expression of
ITGA6/ITGB4 in hemidesmosomes together with CD151 and the apparent
replacement of ITGA3/ITGB1. Fluorescent microscopy showed that CD151 is
a component of both type I and type II hemidesmosomes. The authors
demonstrated that recruitment of CD151 requires the heterodimerization
of ITGB4 with ITGA6, with which CD151 is associated.
The 4-transmembrane domain superfamily (the tetraspanins) are integral
cell membrane proteins comprising at least 28 members in mammals.
Tetraspanins are widely distributed on animal cells, and several are
known to be expressed on human hematopoietic cells, including CD151.
Tetraspanin CD151 forms very stable laminin-binding complexes with
integrins alpha-3-beta-1 (605025; 135630) and alpha-6-beta-1 (147556;
135630) in kidney and alpha-3-beta-1 and alpha-6-beta-4 (147558; 147557)
in skin. Karamatic Crew et al. (2004) demonstrated that CD151 expresses
the MER2 blood group antigen and is located on erythrocytes.
CD151 is highly expressed in megakaryocytes and, to a lesser extent, in
platelets. Using Cd151-deficient mice, Lau et al. (2004) provided the
first direct evidence that CD151 is essential for normal platelet
function and that disruption of CD151 induces a moderate outside-in
integrin alpha-IIb-beta-3 (see 607759, 173470) signaling defect.
GENE STRUCTURE
By PCR and genomic sequence analyses, Whittock and McLean (2001)
determined that the CD151 gene contains 8 exons spanning 4.3 kb, with
exons 2 to 8 encoding the CD151 protein. They also described a PCR-based
mutation-detection strategy to facilitate identification of pathogenic
mutations in patients with fragile skin and mucous membranes.
MOLECULAR GENETICS
Karamatic Crew et al. (2004) studied the CD151 gene in 3 patients who
were negative for the blood group antigen MER2 (179620), which is
expressed by the CD151 tetraspanin. The patients were of Indian Jewish
origin and had end-stage kidney disease. In addition to hereditary
nephritis, the sibs had sensorineural deafness, pretibial epidermolysis
bullosa, and beta-thalassemia minor. All 3 patients were homozygous for
a single-nucleotide insertion in exon 5 of CD151, causing a frameshift
and premature stop signal at codon 140 (602243.0001). The resultant
truncated protein would lack its integrin-binding domain. Karamatic Crew
et al. (2004) concluded that CD151 is essential for the proper assembly
of the glomerular and tubular basement membrane in kidney, has
functional significance in the skin, is probably a component of the
inner ear, and could play a role in erythropoiesis, as suggested by the
presence of beta-thalassemia minor.
MAPPING
Hasegawa et al. (1997) mapped the PETA3 gene to 11p15.5 by fluorescence
in situ hybridization. Whittock and McLean (2001) confirmed that the
CD151 gene maps to 11p15.5 by radiation hybrid analysis.
Daniels et al. (1987) assigned the MER2 locus to 11p15 by study of
somatic cell hybrids.
ANIMAL MODEL
Wright et al. (2004) generated mice with a homozygous deletion of all 6
coding exons of the Cd151 gene. The Cd151 -/- mice were viable, fertile,
and healthy, with normal blood and marrow cell counts and normal tissue
morphology and integrin expression in skin. However, the mice had a
minor abnormality in hemostasis, with longer bleeding times, greater
blood loss, and increased incidence of spontaneous tail vein rebleeding.
Cd151 -/- keratinocytes migrated poorly in skin explant cultures, and
mutant lymphocytes were hyperproliferative after mitogen stimulation in
vitro. Wright et al. (2004) noted that other tetraspanin deletion
mutants produce mild phenotypes and suggested that this may be due to
complementation by other tetraspanins or that these proteins function as
modifiers rather than as essential components of the molecular complexes
in which they participate.
*FIELD* AV
.0001
NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
CD151, 1-BP INS, G383
In 3 MER2-negative patients of Indian Jewish origin with end-stage
kidney disease (609057), Karamatic Crew et al. (2004) found homozygosity
for a single-nucleotide insertion (G383) in exon 5 of the CD151 gene,
causing a frameshift and premature stop signal in codon 140. The
resultant truncated protein would lack its integrin-binding domain. The
findings suggested that CD151 is essential for the proper assembly of
the glomerular and tubular basement membrane in kidney, as well as
having functional significance in skin and probably the inner ear.
*FIELD* RF
1. Ashman, L. K.; Aylett, G. W.; Mehrabani, P. A.; Bendall, L. J.;
Niutta, S.; Cambareri, A. C.; Cole, S. R.; Berndt, M. C.: The murine
monoclonal antibody, 14A2.H1, identifies a novel platelet surface
antigen. Brit. J. Haemat. 79: 263-270, 1991.
2. Bill, J.; Palmer, E.; Jones, C.: Molecular cloning of MER-2, a
human chromosome-11-encoded red blood cell antigen, using linkage
of cotransfected markers. Somat. Cell Molec. Genet. 13: 553-561,
1987.
3. Daniels, G. L.; Tippett, P.; Palmer, D. K.; Miller, Y. E.; Geyer,
D.; Jones, C.: MER2: a red cell polymorphism defined by monoclonal
antibodies. Vox Sang. 52: 107-110, 1987.
4. Fitter, S.; Tetaz, T. J.; Berndt, M. C.; Ashman, L. K.: Molecular
cloning of cDNA encoding a novel platelet-endothelial cell tetra-span
antigen, PETA-3. Blood 86: 1348-1355, 1995.
5. Hasegawa, H.; Kishimoto, K.; Yanagisawa, K.; Terasaki, H.; Shimadzu,
M.; Fujita, S.: Assignment of SFA-1 (PETA-3), a member of the transmembrane
4 superfamily, to human chromosome 11p15.5 by fluorescence in situ
hybridization. Genomics 40: 193-196, 1997.
6. Hasegawa, H.; Utsunomiya, Y.; Kishimoto, K.; Yanagisawa, K.; Fujita,
S.: SFA-1, a novel cellular gene induced by human T-cell leukemia
virus type 1, is a member of the transmembrane 4 superfamily. J.
Virol. 70: 3258-3263, 1996. Notes: Erratum: J. Virol. 71: 1737, 1997.
7. Karamatic Crew, V.; Burton, N.; Kagan, A.; Green, C. A.; Levene,
C.; Flinter, F.; Brady, R. L.; Daniels, G.; Anstee, D. J.: CD151,
the first member of the tetraspanin (TM4) superfamily detected on
erythrocytes, is essential for the correct assembly of human basement
membranes in kidney and skin. Blood 104: 2217-2223, 2004.
8. Lau, L.-M.; Wee, J. L.; Wright, M. D.; Moseley, G. W.; Hogarth,
P. M.; Ashman, L. K.; Jackson, D. E.: The tetraspanin superfamily
member CD151 regulates outside-in integrin alpha(IIb)-beta(3) signaling
and platelet function. Blood 104: 2368-2375, 2004. Note: Erratum:
Blood 105: 1395 only, 2005.
9. Sterk, L. M. Th.; Geuijen, C. A. W.; Oomen, L. C. J. M.; Calafat,
J.; Janssen, H.; Sonnenberg, A.: The tetraspan molecule CD151, a
novel constituent of hemidesmosomes, associates with the integrin
alpha-6/beta-4 and may regulate the spatial organization of hemidesmosomes. J.
Cell Biol. 149: 969-982, 2000.
10. Whittock, N. V.; McLean, W. H. I.: Genomic organization, amplification,
fine mapping, and intragenic polymorphisms of the human hemidesmosomal
tetraspanin CD151 gene. Biochem. Biophys. Res. Commun. 281: 425-430,
2001.
11. Wright, M. D.; Geary, S. M.; Fitter, S.; Moseley, G. W.; Lau,
L.-M.; Sheng, K.-C.; Apostolopoulos, V.; Stanley, E. G.; Jackson,
D. E.; Ashman, L. K.: Characterization of mice lacking the tetraspanin
superfamily member CD151. Molec. Cell. Biol. 24: 5978-5988, 2004.
*FIELD* CN
Victor A. McKusick - updated: 1/11/2005
Paul J. Converse - updated: 12/3/2004
Victor A. McKusick - updated: 11/15/2004
Paul J. Converse - updated: 4/9/2001
Paul J. Converse - updated: 8/15/2000
*FIELD* CD
Rebekah S. Rasooly: 1/8/1998
*FIELD* ED
terry: 12/21/2012
tkritzer: 1/21/2005
terry: 1/11/2005
mgross: 12/3/2004
alopez: 11/30/2004
terry: 11/15/2004
joanna: 11/8/2004
mgross: 4/9/2001
mgross: 8/15/2000
psherman: 6/6/1998
alopez: 1/16/1998
alopez: 1/9/1998
*RECORD*
*FIELD* NO
602243
*FIELD* TI
*602243 CD151 ANTIGEN; CD151
;;PLATELET-ENDOTHELIAL CELL TETRASPANIN ANTIGEN 3; PETA3;;
read moreSFA1;;
RED BLOOD CELL ANTIGEN MER 2; MER2
*FIELD* TX
CLONING
Transmembrane 4 (4TM) superfamily proteins are membrane proteins with 4
conserved transmembrane domains. Fitter et al. (1995) showed that the
platelet surface glycoprotein gp27 identified by Ashman et al. (1991) is
a member of this group. Fitter et al. (1995) cloned the gp27 gene,
designated PETA3 by them, by sequencing purified protein and using the
resulting probes in RT-PCR to obtain a cDNA from megakaryoblastic cells.
Fitter et al. (1995) assigned this 253-amino acid protein to the 4TM
group because it has 4 predicted hydrophobic regions and 30% homology to
other members of the group. Northern blot analysis showed that PETA3 is
expressed in most tissues, but not in brain. Hasegawa et al. (1996)
cloned the same gene, which they named SFA1, during a screen for genes
induced by HTLV-1 transformation in T cells. The 62-bp difference
between the 5-prime untranslated regions of the PETA3 and SFA1 cDNAs was
ascribed to alternative splicing in an erratum to Hasegawa et al.
(1996).
Bill et al. (1987) cloned the MER2 (179620) gene using a strategy that
involved cotransfection of resistance to an antibiotic.
GENE FUNCTION
Hemidesmosomes are specialized junctional complexes that function as
cell-attachment sites for binding to basement membranes. They appear as
electron-dense structures, resembling half a desmosome. Alpha-6 (ITGA6;
147556)/beta-4 (ITGB4; 147557) integrin is a major component of
hemidesmosomes. In addition to ITGA6/ITGB4, classic type I
hemidesmosomes contain BP180 (COL17A1; 113811) and BP230 (BPAG1;
113810), while type II hemidesmosomes, which are found in cylindrical
epithelia, contain plectin (601282). Using immunohistochemistry and
immunoelectron microscopy, Sterk et al. (2000) identified CD151, but not
the tetraspanins CD9 (143030) or CD81 (186845), codistributed with
ITGA6/ITGB4 in hemidesmosomes but not desmosomes at the basolateral
surfaces of basal keratinocytes. Immunoprecipitation and immunoblot
analysis showed that CD151 associates with ITGA6/ITGB4 and with ITGA3
(605025)/ITGB1 (135630), but not with ITGA5 (135620)/ITGB1. In pyloric
atresia-junctional epidermolysis bullosa (PA-JEB; 226730) cells lacking
ITGB4 (thus lacking hemidesmosomes), CD151 colocalized with ITGA3/ITGB1.
Expression of ITGB4 in PA-JEB cells induced surface expression of
ITGA6/ITGB4 in hemidesmosomes together with CD151 and the apparent
replacement of ITGA3/ITGB1. Fluorescent microscopy showed that CD151 is
a component of both type I and type II hemidesmosomes. The authors
demonstrated that recruitment of CD151 requires the heterodimerization
of ITGB4 with ITGA6, with which CD151 is associated.
The 4-transmembrane domain superfamily (the tetraspanins) are integral
cell membrane proteins comprising at least 28 members in mammals.
Tetraspanins are widely distributed on animal cells, and several are
known to be expressed on human hematopoietic cells, including CD151.
Tetraspanin CD151 forms very stable laminin-binding complexes with
integrins alpha-3-beta-1 (605025; 135630) and alpha-6-beta-1 (147556;
135630) in kidney and alpha-3-beta-1 and alpha-6-beta-4 (147558; 147557)
in skin. Karamatic Crew et al. (2004) demonstrated that CD151 expresses
the MER2 blood group antigen and is located on erythrocytes.
CD151 is highly expressed in megakaryocytes and, to a lesser extent, in
platelets. Using Cd151-deficient mice, Lau et al. (2004) provided the
first direct evidence that CD151 is essential for normal platelet
function and that disruption of CD151 induces a moderate outside-in
integrin alpha-IIb-beta-3 (see 607759, 173470) signaling defect.
GENE STRUCTURE
By PCR and genomic sequence analyses, Whittock and McLean (2001)
determined that the CD151 gene contains 8 exons spanning 4.3 kb, with
exons 2 to 8 encoding the CD151 protein. They also described a PCR-based
mutation-detection strategy to facilitate identification of pathogenic
mutations in patients with fragile skin and mucous membranes.
MOLECULAR GENETICS
Karamatic Crew et al. (2004) studied the CD151 gene in 3 patients who
were negative for the blood group antigen MER2 (179620), which is
expressed by the CD151 tetraspanin. The patients were of Indian Jewish
origin and had end-stage kidney disease. In addition to hereditary
nephritis, the sibs had sensorineural deafness, pretibial epidermolysis
bullosa, and beta-thalassemia minor. All 3 patients were homozygous for
a single-nucleotide insertion in exon 5 of CD151, causing a frameshift
and premature stop signal at codon 140 (602243.0001). The resultant
truncated protein would lack its integrin-binding domain. Karamatic Crew
et al. (2004) concluded that CD151 is essential for the proper assembly
of the glomerular and tubular basement membrane in kidney, has
functional significance in the skin, is probably a component of the
inner ear, and could play a role in erythropoiesis, as suggested by the
presence of beta-thalassemia minor.
MAPPING
Hasegawa et al. (1997) mapped the PETA3 gene to 11p15.5 by fluorescence
in situ hybridization. Whittock and McLean (2001) confirmed that the
CD151 gene maps to 11p15.5 by radiation hybrid analysis.
Daniels et al. (1987) assigned the MER2 locus to 11p15 by study of
somatic cell hybrids.
ANIMAL MODEL
Wright et al. (2004) generated mice with a homozygous deletion of all 6
coding exons of the Cd151 gene. The Cd151 -/- mice were viable, fertile,
and healthy, with normal blood and marrow cell counts and normal tissue
morphology and integrin expression in skin. However, the mice had a
minor abnormality in hemostasis, with longer bleeding times, greater
blood loss, and increased incidence of spontaneous tail vein rebleeding.
Cd151 -/- keratinocytes migrated poorly in skin explant cultures, and
mutant lymphocytes were hyperproliferative after mitogen stimulation in
vitro. Wright et al. (2004) noted that other tetraspanin deletion
mutants produce mild phenotypes and suggested that this may be due to
complementation by other tetraspanins or that these proteins function as
modifiers rather than as essential components of the molecular complexes
in which they participate.
*FIELD* AV
.0001
NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
CD151, 1-BP INS, G383
In 3 MER2-negative patients of Indian Jewish origin with end-stage
kidney disease (609057), Karamatic Crew et al. (2004) found homozygosity
for a single-nucleotide insertion (G383) in exon 5 of the CD151 gene,
causing a frameshift and premature stop signal in codon 140. The
resultant truncated protein would lack its integrin-binding domain. The
findings suggested that CD151 is essential for the proper assembly of
the glomerular and tubular basement membrane in kidney, as well as
having functional significance in skin and probably the inner ear.
*FIELD* RF
1. Ashman, L. K.; Aylett, G. W.; Mehrabani, P. A.; Bendall, L. J.;
Niutta, S.; Cambareri, A. C.; Cole, S. R.; Berndt, M. C.: The murine
monoclonal antibody, 14A2.H1, identifies a novel platelet surface
antigen. Brit. J. Haemat. 79: 263-270, 1991.
2. Bill, J.; Palmer, E.; Jones, C.: Molecular cloning of MER-2, a
human chromosome-11-encoded red blood cell antigen, using linkage
of cotransfected markers. Somat. Cell Molec. Genet. 13: 553-561,
1987.
3. Daniels, G. L.; Tippett, P.; Palmer, D. K.; Miller, Y. E.; Geyer,
D.; Jones, C.: MER2: a red cell polymorphism defined by monoclonal
antibodies. Vox Sang. 52: 107-110, 1987.
4. Fitter, S.; Tetaz, T. J.; Berndt, M. C.; Ashman, L. K.: Molecular
cloning of cDNA encoding a novel platelet-endothelial cell tetra-span
antigen, PETA-3. Blood 86: 1348-1355, 1995.
5. Hasegawa, H.; Kishimoto, K.; Yanagisawa, K.; Terasaki, H.; Shimadzu,
M.; Fujita, S.: Assignment of SFA-1 (PETA-3), a member of the transmembrane
4 superfamily, to human chromosome 11p15.5 by fluorescence in situ
hybridization. Genomics 40: 193-196, 1997.
6. Hasegawa, H.; Utsunomiya, Y.; Kishimoto, K.; Yanagisawa, K.; Fujita,
S.: SFA-1, a novel cellular gene induced by human T-cell leukemia
virus type 1, is a member of the transmembrane 4 superfamily. J.
Virol. 70: 3258-3263, 1996. Notes: Erratum: J. Virol. 71: 1737, 1997.
7. Karamatic Crew, V.; Burton, N.; Kagan, A.; Green, C. A.; Levene,
C.; Flinter, F.; Brady, R. L.; Daniels, G.; Anstee, D. J.: CD151,
the first member of the tetraspanin (TM4) superfamily detected on
erythrocytes, is essential for the correct assembly of human basement
membranes in kidney and skin. Blood 104: 2217-2223, 2004.
8. Lau, L.-M.; Wee, J. L.; Wright, M. D.; Moseley, G. W.; Hogarth,
P. M.; Ashman, L. K.; Jackson, D. E.: The tetraspanin superfamily
member CD151 regulates outside-in integrin alpha(IIb)-beta(3) signaling
and platelet function. Blood 104: 2368-2375, 2004. Note: Erratum:
Blood 105: 1395 only, 2005.
9. Sterk, L. M. Th.; Geuijen, C. A. W.; Oomen, L. C. J. M.; Calafat,
J.; Janssen, H.; Sonnenberg, A.: The tetraspan molecule CD151, a
novel constituent of hemidesmosomes, associates with the integrin
alpha-6/beta-4 and may regulate the spatial organization of hemidesmosomes. J.
Cell Biol. 149: 969-982, 2000.
10. Whittock, N. V.; McLean, W. H. I.: Genomic organization, amplification,
fine mapping, and intragenic polymorphisms of the human hemidesmosomal
tetraspanin CD151 gene. Biochem. Biophys. Res. Commun. 281: 425-430,
2001.
11. Wright, M. D.; Geary, S. M.; Fitter, S.; Moseley, G. W.; Lau,
L.-M.; Sheng, K.-C.; Apostolopoulos, V.; Stanley, E. G.; Jackson,
D. E.; Ashman, L. K.: Characterization of mice lacking the tetraspanin
superfamily member CD151. Molec. Cell. Biol. 24: 5978-5988, 2004.
*FIELD* CN
Victor A. McKusick - updated: 1/11/2005
Paul J. Converse - updated: 12/3/2004
Victor A. McKusick - updated: 11/15/2004
Paul J. Converse - updated: 4/9/2001
Paul J. Converse - updated: 8/15/2000
*FIELD* CD
Rebekah S. Rasooly: 1/8/1998
*FIELD* ED
terry: 12/21/2012
tkritzer: 1/21/2005
terry: 1/11/2005
mgross: 12/3/2004
alopez: 11/30/2004
terry: 11/15/2004
joanna: 11/8/2004
mgross: 4/9/2001
mgross: 8/15/2000
psherman: 6/6/1998
alopez: 1/16/1998
alopez: 1/9/1998
MIM
609057
*RECORD*
*FIELD* NO
609057
*FIELD* TI
#609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
*FIELD* TX
A number sign (#) is used with this entry because of evidence that this
read moresyndrome is caused by mutation in the CD151 gene (602243).
CLINICAL FEATURES
Kagan et al. (1988) described 2 sibs with an apparently unique
association of hereditary nephritis, epidermolysis bullosa, and
beta-thalassemia minor. The sibs were a 19-year-old boy and his
17-year-old sister (of an 'oriental Jewish' family). They had been on
hemodialysis for 5 years and continuous ambulatory peritoneal dialysis
for 1 year, respectively. Both showed multiple recurrent infected skin
blisters of the legs followed by atrophy, nail dystrophy, bilateral
lacrimal duct stenosis, sensorineural deafness, proteinuria in the
nephrotic range, and anemia due to beta-thalassemia minor.
MOLECULAR GENETICS
Karamatic Crew et al. (2004) demonstrated that the sibs described by
Kagan et al. (1988) and a third patient were negative for the MER2 blood
group antigen (see 179620), which is expressed by the CD151 gene
(602243). All 3 were homozygous for a 1-bp insertion in the CD151 gene,
causing frameshift and a premature stop signal, with the resultant
truncated protein lacking the integrin-binding domain (602243.0001).
Pretibial epidermolysis bullosa (131850) can be caused by mutation in
the COL7A1 gene (120120), but renal disease and deafness are
unassociated. Association of deafness and nephropathy suggested Alport
syndrome, which is usually inherited as an X-linked disorder (301050)
and caused by mutation in the COL4A5 gene (303630). Autosomal recessive
Alport syndrome (203780) is caused by mutation in the COL4A3 (120070) or
COL4A4 (120131) genes.
*FIELD* RF
1. Kagan, A.; Feld, S.; Chemke, J.; Bar-Khayim, Y.: Occurrence of
hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia
minor in two siblings with end-stage renal disease. (Letter) Nephron 49:
331-332, 1988.
2. Karamatic Crew, V.; Burton, N.; Kagan, A.; Green, C. A.; Levene,
C.; Flinter, F.; Brady, R. L.; Daniels, G.; Anstee, D. J.: CD151,
the first member of the tetraspanin (TM4) superfamily detected on
erythrocytes, is essential for the correct assembly of human basement
membranes in kidney and skin. Blood 104: 2217-2223, 2004.
*FIELD* CD
Victor A. McKusick: 11/30/2004
*FIELD* ED
alopez: 11/30/2004
*RECORD*
*FIELD* NO
609057
*FIELD* TI
#609057 NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS
*FIELD* TX
A number sign (#) is used with this entry because of evidence that this
read moresyndrome is caused by mutation in the CD151 gene (602243).
CLINICAL FEATURES
Kagan et al. (1988) described 2 sibs with an apparently unique
association of hereditary nephritis, epidermolysis bullosa, and
beta-thalassemia minor. The sibs were a 19-year-old boy and his
17-year-old sister (of an 'oriental Jewish' family). They had been on
hemodialysis for 5 years and continuous ambulatory peritoneal dialysis
for 1 year, respectively. Both showed multiple recurrent infected skin
blisters of the legs followed by atrophy, nail dystrophy, bilateral
lacrimal duct stenosis, sensorineural deafness, proteinuria in the
nephrotic range, and anemia due to beta-thalassemia minor.
MOLECULAR GENETICS
Karamatic Crew et al. (2004) demonstrated that the sibs described by
Kagan et al. (1988) and a third patient were negative for the MER2 blood
group antigen (see 179620), which is expressed by the CD151 gene
(602243). All 3 were homozygous for a 1-bp insertion in the CD151 gene,
causing frameshift and a premature stop signal, with the resultant
truncated protein lacking the integrin-binding domain (602243.0001).
Pretibial epidermolysis bullosa (131850) can be caused by mutation in
the COL7A1 gene (120120), but renal disease and deafness are
unassociated. Association of deafness and nephropathy suggested Alport
syndrome, which is usually inherited as an X-linked disorder (301050)
and caused by mutation in the COL4A5 gene (303630). Autosomal recessive
Alport syndrome (203780) is caused by mutation in the COL4A3 (120070) or
COL4A4 (120131) genes.
*FIELD* RF
1. Kagan, A.; Feld, S.; Chemke, J.; Bar-Khayim, Y.: Occurrence of
hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia
minor in two siblings with end-stage renal disease. (Letter) Nephron 49:
331-332, 1988.
2. Karamatic Crew, V.; Burton, N.; Kagan, A.; Green, C. A.; Levene,
C.; Flinter, F.; Brady, R. L.; Daniels, G.; Anstee, D. J.: CD151,
the first member of the tetraspanin (TM4) superfamily detected on
erythrocytes, is essential for the correct assembly of human basement
membranes in kidney and skin. Blood 104: 2217-2223, 2004.
*FIELD* CD
Victor A. McKusick: 11/30/2004
*FIELD* ED
alopez: 11/30/2004