Full text data of CD109
CD109
(CPAMD7)
[Confidence: high (a blood group or CD marker)]
CD109 antigen (150 kDa TGF-beta-1-binding protein; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; Platelet-specific Gov antigen; p180; r150; CD109; Flags: Precursor)
CD109 antigen (150 kDa TGF-beta-1-binding protein; C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7; Platelet-specific Gov antigen; p180; r150; CD109; Flags: Precursor)
UniProt
Q6YHK3
ID CD109_HUMAN Reviewed; 1445 AA.
AC Q6YHK3; A5YKK4; B2R948; B3KW25; Q0P6K7; Q5SYA8; Q5XUM7; Q5XUM9;
read moreAC Q6MZI7; Q8N3A7; Q8N915; Q8TDJ2; Q8TDJ3;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 22-JAN-2014, entry version 82.
DE RecName: Full=CD109 antigen;
DE AltName: Full=150 kDa TGF-beta-1-binding protein;
DE AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7;
DE AltName: Full=Platelet-specific Gov antigen;
DE AltName: Full=p180;
DE AltName: Full=r150;
DE AltName: CD_antigen=CD109;
DE Flags: Precursor;
GN Name=CD109; Synonyms=CPAMD7;
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] (ISOFORM 1), PROTEIN SEQUENCE OF 86-98;
RP 127-137; 170-183; 185-196; 355-374; 413-425; 444-451; 465-471;
RP 478-491; 494-510; 573-589; 649-655; 666-672; 677-683; 698-709 AND
RP 791-806, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND VARIANT
RP MET-1241.
RX PubMed=11861284; DOI=10.1182/blood.V99.5.1683;
RA Lin M., Sutherland D.R., Horsfall W., Totty N., Yeo E., Nayar R.,
RA Wu X.-F., Schuh A.C.;
RT "Cell surface antigen CD109 is a novel member of the alpha(2)
RT macroglobulin/C3, C4, C5 family of thioester-containing proteins.";
RL Blood 99:1683-1691(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 22-50
RP (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANTS SER-703; SER-797 AND
RP ILE-845.
RX PubMed=14980714; DOI=10.1016/j.gene.2003.11.025;
RA Solomon K.R., Sharma P., Chan M., Morrison P.T., Finberg R.W.;
RT "CD109 represents a novel branch of the alpha2-
RT macroglobulin/complement gene family.";
RL Gene 327:171-183(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), PROTEIN SEQUENCE OF 173-191,
RP FUNCTION, INTERACTION WITH TGFB1 AND TGFBR1, SUBCELLULAR LOCATION,
RP TISSUE SPECIFICITY, PROTEOLYTIC CLEAVAGE, AND VARIANTS SER-703;
RP SER-797 AND ILE-845.
RC TISSUE=Placenta;
RX PubMed=16754747; DOI=10.1096/fj.05-5229fje;
RA Finnson K.W., Tam B.Y.Y., Liu K., Marcoux A., Lepage P., Roy S.,
RA Bizet A.A., Philip A.;
RT "Identification of CD109 as part of the TGF-beta receptor system in
RT human keratinocytes.";
RL FASEB J. 20:1525-1527(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND
RP VARIANTS SER-703; SER-797 AND ILE-845.
RC TISSUE=Chondrocyte, Trachea, and Vascular endothelial cell;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND
RP VARIANTS SER-703; SER-797; ILE-845 AND MET-1241.
RC TISSUE=Colon endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 370-444 AND 922-959.
RA Prosper J.Y.A., Wu X.-F., Sutherland D.R., Irwin D.M., Schuh A.C.;
RT "CD109 defines an ancient branch of the alpha2M/C3, C4, C5 family.";
RL Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 703-741, AND VARIANT GOV(B)
RP SER-703.
RX PubMed=11861285; DOI=10.1182/blood.V99.5.1692;
RA Schuh A.C., Watkins N.A., Nguyen Q., Harmer N.J., Lin M.,
RA Prosper J.Y.A., Campbell K., Sutherland D.R., Metcalfe P.,
RA Horsfall W., Ouwehand W.H.;
RT "A tyrosine703serine polymorphism of CD109 defines the Gov platelet
RT alloantigens.";
RL Blood 99:1692-1698(2002).
RN [9]
RP PROTEOLYTIC CLEAVAGE, AND GLYCOSYLATION.
RX PubMed=1984805;
RA Sutherland D.R., Yeo E., Ryan A., Mills G.B., Bailey D., Baker M.A.;
RT "Identification of a cell-surface antigen associated with activated T
RT lymphoblasts and activated platelets.";
RL Blood 77:84-93(1991).
RN [10]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-68; ASN-118; ASN-247 AND
RP ASN-419, AND MASS SPECTROMETRY.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA Moore R.J., Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [11]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-247, AND MASS
RP SPECTROMETRY.
RC TISSUE=Platelet;
RX PubMed=16263699; DOI=10.1074/mcp.M500324-MCP200;
RA Lewandrowski U., Moebius J., Walter U., Sickmann A.;
RT "Elucidation of N-glycosylation sites on human platelet proteins: a
RT glycoproteomic approach.";
RL Mol. Cell. Proteomics 5:226-233(2006).
RN [12]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-419, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of
RT multiple enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [13]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-68 AND ASN-118, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-
RT linked cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
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).
RN [15]
RP VARIANTS [LARGE SCALE ANALYSIS] GLU-1007 AND LYS-1065.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Modulates negatively TGFB1 signaling in keratinocytes.
CC -!- SUBUNIT: Heterodimer; disulfide-linked. Interacts with TGFB1 and
CC TGFBR1. Forms a heteromeric complex with TGFBR1, TGFBR2 and TGFBR3
CC in a ligand-independent manner.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=CD109 180-kDa;
CC IsoId=Q6YHK3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6YHK3-2; Sequence=VSP_021312;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=Q6YHK3-3; Sequence=VSP_021313, VSP_021314;
CC Note=No experimental confirmation available;
CC Name=4; Synonyms=CD109S;
CC IsoId=Q6YHK3-4; Sequence=VSP_021315;
CC -!- TISSUE SPECIFICITY: Widely expressed with high level in uterus,
CC aorta, heart, lung, trachea, placenta and in fetal heart, kidney,
CC liver, spleen and lung. Expressed by CD34(+) acute myeloid
CC leukemia cell lines, T-cell lines, activated T-lymphoblasts,
CC endothelial cells and activated platelets. Isoform 5 is expressed
CC in placenta. Isoform 1 is expressed in keratinocytes and placenta.
CC -!- PTM: N-glycosylated.
CC -!- PTM: 2 forms of 150 (p150) and 120 kDa (p120) exist due to
CC proteolytic degradation from a 180 kDa form.
CC -!- POLYMORPHISM: The Gov(b) variant in position 703 defines the Gov
CC alloantigenic determinants.
CC -!- SIMILARITY: Belongs to the protease inhibitor I39 (alpha-2-
CC macroglobulin) family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG53987.1; Type=Erroneous initiation;
CC Sequence=CAE46045.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
CC Sequence=CAE46045.1; Type=Frameshift; Positions=1282;
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/CD109ID42925ch6q13.html";
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DR EMBL; AF410459; AAL84159.1; -; mRNA.
DR EMBL; AY149920; AAN78483.1; -; mRNA.
DR EMBL; AY788891; AAX14639.1; -; mRNA.
DR EMBL; AK095888; BAC04642.1; -; mRNA.
DR EMBL; AK123960; BAG53987.1; ALT_INIT; mRNA.
DR EMBL; AK313636; BAG36395.1; -; mRNA.
DR EMBL; AL834478; CAD39137.1; -; mRNA.
DR EMBL; BX641095; CAE46045.1; ALT_SEQ; mRNA.
DR EMBL; EF553520; ABQ66266.1; -; mRNA.
DR EMBL; AL590428; CAI15636.1; -; Genomic_DNA.
DR EMBL; AL591480; CAI15636.1; JOINED; Genomic_DNA.
DR EMBL; AY736555; AAU94642.1; -; Genomic_DNA.
DR EMBL; AY736557; AAU94644.1; -; Genomic_DNA.
DR EMBL; AF410460; AAL84160.1; -; Genomic_DNA.
DR RefSeq; NP_001153059.1; NM_001159587.1.
DR RefSeq; NP_001153060.1; NM_001159588.1.
DR RefSeq; NP_598000.2; NM_133493.3.
DR RefSeq; XP_005248716.1; XM_005248659.1.
DR UniGene; Hs.399891; -.
DR ProteinModelPortal; Q6YHK3; -.
DR SMR; Q6YHK3; 28-1418.
DR IntAct; Q6YHK3; 1.
DR MEROPS; I39.006; -.
DR PhosphoSite; Q6YHK3; -.
DR DMDM; 117949389; -.
DR PaxDb; Q6YHK3; -.
DR PRIDE; Q6YHK3; -.
DR DNASU; 135228; -.
DR Ensembl; ENST00000287097; ENSP00000287097; ENSG00000156535.
DR Ensembl; ENST00000422508; ENSP00000404475; ENSG00000156535.
DR Ensembl; ENST00000437994; ENSP00000388062; ENSG00000156535.
DR GeneID; 135228; -.
DR KEGG; hsa:135228; -.
DR UCSC; uc003php.3; human.
DR CTD; 135228; -.
DR GeneCards; GC06P074462; -.
DR H-InvDB; HIX0006012; -.
DR HGNC; HGNC:21685; CD109.
DR HPA; HPA009292; -.
DR HPA; HPA015113; -.
DR MIM; 608859; gene.
DR neXtProt; NX_Q6YHK3; -.
DR Orphanet; 853; Fetal and neonatal alloimmune thrombocytopenia.
DR PharmGKB; PA134949237; -.
DR eggNOG; COG2373; -.
DR HOVERGEN; HBG097839; -.
DR InParanoid; Q6YHK3; -.
DR KO; K06530; -.
DR OMA; PENSWAP; -.
DR OrthoDB; EOG7PGDPR; -.
DR PhylomeDB; Q6YHK3; -.
DR ChiTaRS; CD109; human.
DR GeneWiki; CD109; -.
DR GenomeRNAi; 135228; -.
DR NextBio; 83469; -.
DR PRO; PR:Q6YHK3; -.
DR ArrayExpress; Q6YHK3; -.
DR Bgee; Q6YHK3; -.
DR Genevestigator; Q6YHK3; -.
DR GO; GO:0031225; C:anchored to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005615; C:extracellular space; IEA:InterPro.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004867; F:serine-type endopeptidase inhibitor activity; IEA:UniProtKB-KW.
DR GO; GO:0010951; P:negative regulation of endopeptidase activity; IEA:GOC.
DR Gene3D; 2.60.40.690; -; 1.
DR InterPro; IPR009048; A-macroglobulin_rcpt-bd.
DR InterPro; IPR011626; A2M_comp.
DR InterPro; IPR002890; A2M_N.
DR InterPro; IPR011625; A2M_N_2.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR001599; Macroglobln_a2.
DR InterPro; IPR019742; MacrogloblnA2_CS.
DR InterPro; IPR019565; MacrogloblnA2_thiol-ester-bond.
DR InterPro; IPR008930; Terpenoid_cyclase/PrenylTrfase.
DR Pfam; PF00207; A2M; 1.
DR Pfam; PF07678; A2M_comp; 1.
DR Pfam; PF01835; A2M_N; 1.
DR Pfam; PF07703; A2M_N_2; 1.
DR Pfam; PF07677; A2M_recep; 1.
DR Pfam; PF10569; Thiol-ester_cl; 1.
DR SUPFAM; SSF48239; SSF48239; 1.
DR SUPFAM; SSF49410; SSF49410; 1.
DR SUPFAM; SSF81296; SSF81296; 1.
DR PROSITE; PS00477; ALPHA_2_MACROGLOBULIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Bait region; Cell membrane; Complete proteome;
KW Direct protein sequencing; Disulfide bond; Glycoprotein; GPI-anchor;
KW Lipoprotein; Membrane; Polymorphism; Protease inhibitor;
KW Reference proteome; Serine protease inhibitor; Signal; Thioester bond.
FT SIGNAL 1 21
FT CHAIN 22 1420 CD109 antigen.
FT /FTId=PRO_0000255945.
FT PROPEP 1421 1445 Removed in mature form (Potential).
FT /FTId=PRO_0000255946.
FT REGION 593 702 Bait region (approximate) (By
FT similarity).
FT LIPID 1420 1420 GPI-anchor amidated alanine (Potential).
FT CARBOHYD 68 68 N-linked (GlcNAc...).
FT CARBOHYD 118 118 N-linked (GlcNAc...).
FT CARBOHYD 247 247 N-linked (GlcNAc...).
FT CARBOHYD 279 279 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 365 365 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 419 419 N-linked (GlcNAc...).
FT CARBOHYD 645 645 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 1086 1086 N-linked (GlcNAc...) (Potential).
FT CROSSLNK 921 924 Isoglutamyl cysteine thioester (Cys-Gln)
FT (By similarity).
FT VAR_SEQ 93 169 Missing (in isoform 2).
FT /FTId=VSP_021312.
FT VAR_SEQ 658 665 AEYAERFM -> LFGTQEAL (in isoform 3).
FT /FTId=VSP_021313.
FT VAR_SEQ 666 1445 Missing (in isoform 3).
FT /FTId=VSP_021314.
FT VAR_SEQ 1218 1234 Missing (in isoform 4).
FT /FTId=VSP_021315.
FT VARIANT 45 45 G -> V (in dbSNP:rs9446983).
FT /FTId=VAR_028875.
FT VARIANT 377 377 G -> D (in dbSNP:rs7741152).
FT /FTId=VAR_048105.
FT VARIANT 641 641 L -> F (in dbSNP:rs7742662).
FT /FTId=VAR_048106.
FT VARIANT 703 703 Y -> S (in allele Gov(b);
FT dbSNP:rs10455097).
FT /FTId=VAR_028876.
FT VARIANT 797 797 N -> S (in dbSNP:rs2351528).
FT /FTId=VAR_028877.
FT VARIANT 845 845 V -> I (in dbSNP:rs5023688).
FT /FTId=VAR_028878.
FT VARIANT 1007 1007 Q -> E (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_036236.
FT VARIANT 1009 1009 V -> M (in dbSNP:rs35630075).
FT /FTId=VAR_048107.
FT VARIANT 1065 1065 N -> K (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_036237.
FT VARIANT 1241 1241 T -> M (in dbSNP:rs2917862).
FT /FTId=VAR_028879.
FT VARIANT 1296 1296 H -> R (in dbSNP:rs13207595).
FT /FTId=VAR_048108.
FT CONFLICT 627 627 M -> I (in Ref. 2; AAN78483).
FT CONFLICT 789 789 K -> E (in Ref. 4; BAG36395).
FT CONFLICT 803 803 G -> S (in Ref. 2; AAN78483).
FT CONFLICT 1046 1046 V -> A (in Ref. 5; ABQ66266).
FT CONFLICT 1418 1418 D -> N (in Ref. 4; BAG53987).
SQ SEQUENCE 1445 AA; 161689 MW; 0C5B1C3B8CCAF195 CRC64;
MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSNEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPVKF LIDTHNRLLL QTAELAVVQP TAVNISANGF GFAICQLNVV
YNVKASGSSR RRRSIQNQEA FDLDVAVKEN KDDLNHVDLN VCTSFSGPGR SGMALMEVNL
LSGFMVPSEA ISLSETVKKV EYDHGKLNLY LDSVNETQFC VNIPAVRNFK VSNTQDASVS
IVDYYEPRRQ AVRSYNSEVK LSSCDLCSDV QGCRPCEDGA SGSHHHSSVI FIFCFKLLYF
MELWL
//
ID CD109_HUMAN Reviewed; 1445 AA.
AC Q6YHK3; A5YKK4; B2R948; B3KW25; Q0P6K7; Q5SYA8; Q5XUM7; Q5XUM9;
read moreAC Q6MZI7; Q8N3A7; Q8N915; Q8TDJ2; Q8TDJ3;
DT 31-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 31-OCT-2006, sequence version 2.
DT 22-JAN-2014, entry version 82.
DE RecName: Full=CD109 antigen;
DE AltName: Full=150 kDa TGF-beta-1-binding protein;
DE AltName: Full=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7;
DE AltName: Full=Platelet-specific Gov antigen;
DE AltName: Full=p180;
DE AltName: Full=r150;
DE AltName: CD_antigen=CD109;
DE Flags: Precursor;
GN Name=CD109; Synonyms=CPAMD7;
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] (ISOFORM 1), PROTEIN SEQUENCE OF 86-98;
RP 127-137; 170-183; 185-196; 355-374; 413-425; 444-451; 465-471;
RP 478-491; 494-510; 573-589; 649-655; 666-672; 677-683; 698-709 AND
RP 791-806, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND VARIANT
RP MET-1241.
RX PubMed=11861284; DOI=10.1182/blood.V99.5.1683;
RA Lin M., Sutherland D.R., Horsfall W., Totty N., Yeo E., Nayar R.,
RA Wu X.-F., Schuh A.C.;
RT "Cell surface antigen CD109 is a novel member of the alpha(2)
RT macroglobulin/C3, C4, C5 family of thioester-containing proteins.";
RL Blood 99:1683-1691(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 22-50
RP (ISOFORM 1), TISSUE SPECIFICITY, AND VARIANTS SER-703; SER-797 AND
RP ILE-845.
RX PubMed=14980714; DOI=10.1016/j.gene.2003.11.025;
RA Solomon K.R., Sharma P., Chan M., Morrison P.T., Finberg R.W.;
RT "CD109 represents a novel branch of the alpha2-
RT macroglobulin/complement gene family.";
RL Gene 327:171-183(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), PROTEIN SEQUENCE OF 173-191,
RP FUNCTION, INTERACTION WITH TGFB1 AND TGFBR1, SUBCELLULAR LOCATION,
RP TISSUE SPECIFICITY, PROTEOLYTIC CLEAVAGE, AND VARIANTS SER-703;
RP SER-797 AND ILE-845.
RC TISSUE=Placenta;
RX PubMed=16754747; DOI=10.1096/fj.05-5229fje;
RA Finnson K.W., Tam B.Y.Y., Liu K., Marcoux A., Lepage P., Roy S.,
RA Bizet A.A., Philip A.;
RT "Identification of CD109 as part of the TGF-beta receptor system in
RT human keratinocytes.";
RL FASEB J. 20:1525-1527(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND
RP VARIANTS SER-703; SER-797 AND ILE-845.
RC TISSUE=Chondrocyte, Trachea, and Vascular endothelial cell;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND
RP VARIANTS SER-703; SER-797; ILE-845 AND MET-1241.
RC TISSUE=Colon endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 370-444 AND 922-959.
RA Prosper J.Y.A., Wu X.-F., Sutherland D.R., Irwin D.M., Schuh A.C.;
RT "CD109 defines an ancient branch of the alpha2M/C3, C4, C5 family.";
RL Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 703-741, AND VARIANT GOV(B)
RP SER-703.
RX PubMed=11861285; DOI=10.1182/blood.V99.5.1692;
RA Schuh A.C., Watkins N.A., Nguyen Q., Harmer N.J., Lin M.,
RA Prosper J.Y.A., Campbell K., Sutherland D.R., Metcalfe P.,
RA Horsfall W., Ouwehand W.H.;
RT "A tyrosine703serine polymorphism of CD109 defines the Gov platelet
RT alloantigens.";
RL Blood 99:1692-1698(2002).
RN [9]
RP PROTEOLYTIC CLEAVAGE, AND GLYCOSYLATION.
RX PubMed=1984805;
RA Sutherland D.R., Yeo E., Ryan A., Mills G.B., Bailey D., Baker M.A.;
RT "Identification of a cell-surface antigen associated with activated T
RT lymphoblasts and activated platelets.";
RL Blood 77:84-93(1991).
RN [10]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-68; ASN-118; ASN-247 AND
RP ASN-419, AND MASS SPECTROMETRY.
RC TISSUE=Plasma;
RX PubMed=16335952; DOI=10.1021/pr0502065;
RA Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E.,
RA Moore R.J., Smith R.D.;
RT "Human plasma N-glycoproteome analysis by immunoaffinity subtraction,
RT hydrazide chemistry, and mass spectrometry.";
RL J. Proteome Res. 4:2070-2080(2005).
RN [11]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-247, AND MASS
RP SPECTROMETRY.
RC TISSUE=Platelet;
RX PubMed=16263699; DOI=10.1074/mcp.M500324-MCP200;
RA Lewandrowski U., Moebius J., Walter U., Sickmann A.;
RT "Elucidation of N-glycosylation sites on human platelet proteins: a
RT glycoproteomic approach.";
RL Mol. Cell. Proteomics 5:226-233(2006).
RN [12]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-419, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of
RT multiple enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [13]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-68 AND ASN-118, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-
RT linked cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
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).
RN [15]
RP VARIANTS [LARGE SCALE ANALYSIS] GLU-1007 AND LYS-1065.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal
RT cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: Modulates negatively TGFB1 signaling in keratinocytes.
CC -!- SUBUNIT: Heterodimer; disulfide-linked. Interacts with TGFB1 and
CC TGFBR1. Forms a heteromeric complex with TGFBR1, TGFBR2 and TGFBR3
CC in a ligand-independent manner.
CC -!- SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=CD109 180-kDa;
CC IsoId=Q6YHK3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6YHK3-2; Sequence=VSP_021312;
CC Note=No experimental confirmation available;
CC Name=3;
CC IsoId=Q6YHK3-3; Sequence=VSP_021313, VSP_021314;
CC Note=No experimental confirmation available;
CC Name=4; Synonyms=CD109S;
CC IsoId=Q6YHK3-4; Sequence=VSP_021315;
CC -!- TISSUE SPECIFICITY: Widely expressed with high level in uterus,
CC aorta, heart, lung, trachea, placenta and in fetal heart, kidney,
CC liver, spleen and lung. Expressed by CD34(+) acute myeloid
CC leukemia cell lines, T-cell lines, activated T-lymphoblasts,
CC endothelial cells and activated platelets. Isoform 5 is expressed
CC in placenta. Isoform 1 is expressed in keratinocytes and placenta.
CC -!- PTM: N-glycosylated.
CC -!- PTM: 2 forms of 150 (p150) and 120 kDa (p120) exist due to
CC proteolytic degradation from a 180 kDa form.
CC -!- POLYMORPHISM: The Gov(b) variant in position 703 defines the Gov
CC alloantigenic determinants.
CC -!- SIMILARITY: Belongs to the protease inhibitor I39 (alpha-2-
CC macroglobulin) family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAG53987.1; Type=Erroneous initiation;
CC Sequence=CAE46045.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
CC Sequence=CAE46045.1; Type=Frameshift; Positions=1282;
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology
CC and Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/CD109ID42925ch6q13.html";
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DR EMBL; AF410459; AAL84159.1; -; mRNA.
DR EMBL; AY149920; AAN78483.1; -; mRNA.
DR EMBL; AY788891; AAX14639.1; -; mRNA.
DR EMBL; AK095888; BAC04642.1; -; mRNA.
DR EMBL; AK123960; BAG53987.1; ALT_INIT; mRNA.
DR EMBL; AK313636; BAG36395.1; -; mRNA.
DR EMBL; AL834478; CAD39137.1; -; mRNA.
DR EMBL; BX641095; CAE46045.1; ALT_SEQ; mRNA.
DR EMBL; EF553520; ABQ66266.1; -; mRNA.
DR EMBL; AL590428; CAI15636.1; -; Genomic_DNA.
DR EMBL; AL591480; CAI15636.1; JOINED; Genomic_DNA.
DR EMBL; AY736555; AAU94642.1; -; Genomic_DNA.
DR EMBL; AY736557; AAU94644.1; -; Genomic_DNA.
DR EMBL; AF410460; AAL84160.1; -; Genomic_DNA.
DR RefSeq; NP_001153059.1; NM_001159587.1.
DR RefSeq; NP_001153060.1; NM_001159588.1.
DR RefSeq; NP_598000.2; NM_133493.3.
DR RefSeq; XP_005248716.1; XM_005248659.1.
DR UniGene; Hs.399891; -.
DR ProteinModelPortal; Q6YHK3; -.
DR SMR; Q6YHK3; 28-1418.
DR IntAct; Q6YHK3; 1.
DR MEROPS; I39.006; -.
DR PhosphoSite; Q6YHK3; -.
DR DMDM; 117949389; -.
DR PaxDb; Q6YHK3; -.
DR PRIDE; Q6YHK3; -.
DR DNASU; 135228; -.
DR Ensembl; ENST00000287097; ENSP00000287097; ENSG00000156535.
DR Ensembl; ENST00000422508; ENSP00000404475; ENSG00000156535.
DR Ensembl; ENST00000437994; ENSP00000388062; ENSG00000156535.
DR GeneID; 135228; -.
DR KEGG; hsa:135228; -.
DR UCSC; uc003php.3; human.
DR CTD; 135228; -.
DR GeneCards; GC06P074462; -.
DR H-InvDB; HIX0006012; -.
DR HGNC; HGNC:21685; CD109.
DR HPA; HPA009292; -.
DR HPA; HPA015113; -.
DR MIM; 608859; gene.
DR neXtProt; NX_Q6YHK3; -.
DR Orphanet; 853; Fetal and neonatal alloimmune thrombocytopenia.
DR PharmGKB; PA134949237; -.
DR eggNOG; COG2373; -.
DR HOVERGEN; HBG097839; -.
DR InParanoid; Q6YHK3; -.
DR KO; K06530; -.
DR OMA; PENSWAP; -.
DR OrthoDB; EOG7PGDPR; -.
DR PhylomeDB; Q6YHK3; -.
DR ChiTaRS; CD109; human.
DR GeneWiki; CD109; -.
DR GenomeRNAi; 135228; -.
DR NextBio; 83469; -.
DR PRO; PR:Q6YHK3; -.
DR ArrayExpress; Q6YHK3; -.
DR Bgee; Q6YHK3; -.
DR Genevestigator; Q6YHK3; -.
DR GO; GO:0031225; C:anchored to membrane; IEA:UniProtKB-KW.
DR GO; GO:0005615; C:extracellular space; IEA:InterPro.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0004867; F:serine-type endopeptidase inhibitor activity; IEA:UniProtKB-KW.
DR GO; GO:0010951; P:negative regulation of endopeptidase activity; IEA:GOC.
DR Gene3D; 2.60.40.690; -; 1.
DR InterPro; IPR009048; A-macroglobulin_rcpt-bd.
DR InterPro; IPR011626; A2M_comp.
DR InterPro; IPR002890; A2M_N.
DR InterPro; IPR011625; A2M_N_2.
DR InterPro; IPR014756; Ig_E-set.
DR InterPro; IPR001599; Macroglobln_a2.
DR InterPro; IPR019742; MacrogloblnA2_CS.
DR InterPro; IPR019565; MacrogloblnA2_thiol-ester-bond.
DR InterPro; IPR008930; Terpenoid_cyclase/PrenylTrfase.
DR Pfam; PF00207; A2M; 1.
DR Pfam; PF07678; A2M_comp; 1.
DR Pfam; PF01835; A2M_N; 1.
DR Pfam; PF07703; A2M_N_2; 1.
DR Pfam; PF07677; A2M_recep; 1.
DR Pfam; PF10569; Thiol-ester_cl; 1.
DR SUPFAM; SSF48239; SSF48239; 1.
DR SUPFAM; SSF49410; SSF49410; 1.
DR SUPFAM; SSF81296; SSF81296; 1.
DR PROSITE; PS00477; ALPHA_2_MACROGLOBULIN; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Bait region; Cell membrane; Complete proteome;
KW Direct protein sequencing; Disulfide bond; Glycoprotein; GPI-anchor;
KW Lipoprotein; Membrane; Polymorphism; Protease inhibitor;
KW Reference proteome; Serine protease inhibitor; Signal; Thioester bond.
FT SIGNAL 1 21
FT CHAIN 22 1420 CD109 antigen.
FT /FTId=PRO_0000255945.
FT PROPEP 1421 1445 Removed in mature form (Potential).
FT /FTId=PRO_0000255946.
FT REGION 593 702 Bait region (approximate) (By
FT similarity).
FT LIPID 1420 1420 GPI-anchor amidated alanine (Potential).
FT CARBOHYD 68 68 N-linked (GlcNAc...).
FT CARBOHYD 118 118 N-linked (GlcNAc...).
FT CARBOHYD 247 247 N-linked (GlcNAc...).
FT CARBOHYD 279 279 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 365 365 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 419 419 N-linked (GlcNAc...).
FT CARBOHYD 645 645 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 1086 1086 N-linked (GlcNAc...) (Potential).
FT CROSSLNK 921 924 Isoglutamyl cysteine thioester (Cys-Gln)
FT (By similarity).
FT VAR_SEQ 93 169 Missing (in isoform 2).
FT /FTId=VSP_021312.
FT VAR_SEQ 658 665 AEYAERFM -> LFGTQEAL (in isoform 3).
FT /FTId=VSP_021313.
FT VAR_SEQ 666 1445 Missing (in isoform 3).
FT /FTId=VSP_021314.
FT VAR_SEQ 1218 1234 Missing (in isoform 4).
FT /FTId=VSP_021315.
FT VARIANT 45 45 G -> V (in dbSNP:rs9446983).
FT /FTId=VAR_028875.
FT VARIANT 377 377 G -> D (in dbSNP:rs7741152).
FT /FTId=VAR_048105.
FT VARIANT 641 641 L -> F (in dbSNP:rs7742662).
FT /FTId=VAR_048106.
FT VARIANT 703 703 Y -> S (in allele Gov(b);
FT dbSNP:rs10455097).
FT /FTId=VAR_028876.
FT VARIANT 797 797 N -> S (in dbSNP:rs2351528).
FT /FTId=VAR_028877.
FT VARIANT 845 845 V -> I (in dbSNP:rs5023688).
FT /FTId=VAR_028878.
FT VARIANT 1007 1007 Q -> E (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_036236.
FT VARIANT 1009 1009 V -> M (in dbSNP:rs35630075).
FT /FTId=VAR_048107.
FT VARIANT 1065 1065 N -> K (in a colorectal cancer sample;
FT somatic mutation).
FT /FTId=VAR_036237.
FT VARIANT 1241 1241 T -> M (in dbSNP:rs2917862).
FT /FTId=VAR_028879.
FT VARIANT 1296 1296 H -> R (in dbSNP:rs13207595).
FT /FTId=VAR_048108.
FT CONFLICT 627 627 M -> I (in Ref. 2; AAN78483).
FT CONFLICT 789 789 K -> E (in Ref. 4; BAG36395).
FT CONFLICT 803 803 G -> S (in Ref. 2; AAN78483).
FT CONFLICT 1046 1046 V -> A (in Ref. 5; ABQ66266).
FT CONFLICT 1418 1418 D -> N (in Ref. 4; BAG53987).
SQ SEQUENCE 1445 AA; 161689 MW; 0C5B1C3B8CCAF195 CRC64;
MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSNEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPVKF LIDTHNRLLL QTAELAVVQP TAVNISANGF GFAICQLNVV
YNVKASGSSR RRRSIQNQEA FDLDVAVKEN KDDLNHVDLN VCTSFSGPGR SGMALMEVNL
LSGFMVPSEA ISLSETVKKV EYDHGKLNLY LDSVNETQFC VNIPAVRNFK VSNTQDASVS
IVDYYEPRRQ AVRSYNSEVK LSSCDLCSDV QGCRPCEDGA SGSHHHSSVI FIFCFKLLYF
MELWL
//
MIM
608859
*RECORD*
*FIELD* NO
608859
*FIELD* TI
*608859 CD109 ANTIGEN; CD109
PLATELET-SPECIFIC ANTIGEN SYSTEM GOV, INCLUDED
*FIELD* TX
read more
DESCRIPTION
CD109 is a GPI-linked cell surface antigen expressed by CD34+ acute
myeloid leukemia cell lines, T-cell lines, activated T lymphoblasts,
endothelial cells, and activated platelets (Lin et al., 2002). In
addition, the platelet-specific Gov antigen system, implicated in
refractoriness to platelet transfusion, neonatal alloimmune
thrombocytopenia, and posttransfusion purpura, is carried by CD109
(Kelton et al., 1990; Lin et al., 2002).
CLONING
Lin et al. (2002) isolated and characterized human CD109 from the acute
myeloid leukemia cell line KG1a and from a human umbilical vein
endothelial cell (HUVEC) library. CD109 encodes a deduced 1,445-amino
acid protein with a predicted molecular mass of approximately 162 kD.
The protein contains a cleavable 21 residue N-terminal sequence, 17
potential N-linked glycosylation sites, a GPI anchor site, and a
thioester motif characteristic of the alpha-2-macroglobulin (A2M;
103950)/complement (AMCOM) family. Northern blot analysis detected
11.4-, 7.4-, and 5.5-kb CD109 transcripts in KG1a cells, with the 2
smaller transcripts resulting from an alternative 3-prime UTR. CD109
expression was widespread, with highest levels in adult uterus, aorta,
heart, lung, trachea, and placenta, and in fetal heart, kidney, liver,
spleen, and lung.
Solomon et al. (2004) identified CD109 orthologs several species,
including mouse. Sequence comparisons revealed a conserved motif of 4
positively charged residues, a known cleavage site for furin
(136950)-like enzymes. Phylogenetic analysis suggested that CD109
represents a novel branch of the AMCOM family, showing early divergence
from other family members including A2M, C3 (120700), C4 (120810), and
C5 (120900).
Using peptide sequencing, Giesert et al. (2003) determined that the cell
surface antigen recognized by the monoclonal antibody W7C5, expressed on
fetal liver CD34+ cells and on CD34+ and CD34- bone marrow stem cells,
is CD109. The authors also showed recognition of CD109 by the W7C5
antibody on CHO cells transiently transfected with CD109.
GENE FUNCTION
Lin et al. (2002) showed that CD109 contains an intact thioester that
undergoes autolytic cleavage under denaturing conditions.
GENE STRUCTURE
Solomon et al. (2004) determined that the CD109 gene contains 33 exons
and spans approximately 128 kb. Two CD109 isoforms, 150 kD and 180 kD,
contain the same 5-prime exon encoding a 12-amino acid N-terminal
sequence, but have divergent downstream sequence resulting from
alternative downstream exons.
MAPPING
By sequence analysis, Solomon et al. (2004) mapped the CD109 gene to
chromosome 6q.
MOLECULAR GENETICS
By RT-PCR analysis on 6 phenotypically homozygous Gov(aa) and Gov(bb)
individuals, Schuh et al. (2002) determined that the Gov(b) allele
differs from the Gov(a) allele by an A-to-C transition at nucleotide
2108 of the CD109 gene, resulting in a tyr703-to-ser substitution.
Analysis of 99 additional individuals by RT-PCR, RFLP, or real-time PCR
confirmed correlation of the CD109 polymorphism with Gov phenotypes.
*FIELD* RF
1. Giesert, C.; Marxer, A.; Sutherland, D. R.; Schuh, A. C.; Kanz,
L.; Buhring, H.-J.: Antibody W7C5 defines a CD109 epitope expressed
on CD34+ and CD34- hematopoietic and mesenchymal stem cell subsets. Ann.
New York Acad. Sci. 996: 227-230, 2003.
2. Kelton, J. G.; Smith, J. W.; Horsewood, P.; Humbert, J. R.; Hayward,
C. P. M.; Warkentin, T. E.: Gov(a/b) alloantigen system on human
platelets. Blood 75: 2172-2176, 1990.
3. Lin, M.; Sutherland, D. R.; Horsfall, W.; Totty, N.; Yeo, E.; Nayar,
R.; Wu, X.-F.; Schuh, A. C.: Cell surface antigen CD109 is a novel
member of the alpha-2 macroglobulin/C3, C4, C5 family of thioester-containing
proteins. Blood 99: 1683-1691, 2002.
4. Schuh, A. C.; Watkins, N. A.; Nguyen, Q.; Harmer, N. J.; Lin, M.;
Prosper, J. Y. A.; Campbell, K.; Sutherland, D. R.; Metcalfe, P.;
Horsfall, W.; Ouwehand, W. H.: A tyrosine703serine polymorphism of
CD109 defines the Gov platelet alloantigens. Blood 99: 1692-1698,
2002.
5. Solomon, K. R.; Sharma, P.; Chan, M.; Morrison, P. T.; Finberg,
R. W.: CD109 represents a novel branch of the alpha-2-macroglobulin/complement
gene family. Gene 327: 171-183, 2004.
*FIELD* CD
Laura L. Baxter: 8/19/2004
*FIELD* ED
terry: 11/04/2004
carol: 8/20/2004
*RECORD*
*FIELD* NO
608859
*FIELD* TI
*608859 CD109 ANTIGEN; CD109
PLATELET-SPECIFIC ANTIGEN SYSTEM GOV, INCLUDED
*FIELD* TX
read more
DESCRIPTION
CD109 is a GPI-linked cell surface antigen expressed by CD34+ acute
myeloid leukemia cell lines, T-cell lines, activated T lymphoblasts,
endothelial cells, and activated platelets (Lin et al., 2002). In
addition, the platelet-specific Gov antigen system, implicated in
refractoriness to platelet transfusion, neonatal alloimmune
thrombocytopenia, and posttransfusion purpura, is carried by CD109
(Kelton et al., 1990; Lin et al., 2002).
CLONING
Lin et al. (2002) isolated and characterized human CD109 from the acute
myeloid leukemia cell line KG1a and from a human umbilical vein
endothelial cell (HUVEC) library. CD109 encodes a deduced 1,445-amino
acid protein with a predicted molecular mass of approximately 162 kD.
The protein contains a cleavable 21 residue N-terminal sequence, 17
potential N-linked glycosylation sites, a GPI anchor site, and a
thioester motif characteristic of the alpha-2-macroglobulin (A2M;
103950)/complement (AMCOM) family. Northern blot analysis detected
11.4-, 7.4-, and 5.5-kb CD109 transcripts in KG1a cells, with the 2
smaller transcripts resulting from an alternative 3-prime UTR. CD109
expression was widespread, with highest levels in adult uterus, aorta,
heart, lung, trachea, and placenta, and in fetal heart, kidney, liver,
spleen, and lung.
Solomon et al. (2004) identified CD109 orthologs several species,
including mouse. Sequence comparisons revealed a conserved motif of 4
positively charged residues, a known cleavage site for furin
(136950)-like enzymes. Phylogenetic analysis suggested that CD109
represents a novel branch of the AMCOM family, showing early divergence
from other family members including A2M, C3 (120700), C4 (120810), and
C5 (120900).
Using peptide sequencing, Giesert et al. (2003) determined that the cell
surface antigen recognized by the monoclonal antibody W7C5, expressed on
fetal liver CD34+ cells and on CD34+ and CD34- bone marrow stem cells,
is CD109. The authors also showed recognition of CD109 by the W7C5
antibody on CHO cells transiently transfected with CD109.
GENE FUNCTION
Lin et al. (2002) showed that CD109 contains an intact thioester that
undergoes autolytic cleavage under denaturing conditions.
GENE STRUCTURE
Solomon et al. (2004) determined that the CD109 gene contains 33 exons
and spans approximately 128 kb. Two CD109 isoforms, 150 kD and 180 kD,
contain the same 5-prime exon encoding a 12-amino acid N-terminal
sequence, but have divergent downstream sequence resulting from
alternative downstream exons.
MAPPING
By sequence analysis, Solomon et al. (2004) mapped the CD109 gene to
chromosome 6q.
MOLECULAR GENETICS
By RT-PCR analysis on 6 phenotypically homozygous Gov(aa) and Gov(bb)
individuals, Schuh et al. (2002) determined that the Gov(b) allele
differs from the Gov(a) allele by an A-to-C transition at nucleotide
2108 of the CD109 gene, resulting in a tyr703-to-ser substitution.
Analysis of 99 additional individuals by RT-PCR, RFLP, or real-time PCR
confirmed correlation of the CD109 polymorphism with Gov phenotypes.
*FIELD* RF
1. Giesert, C.; Marxer, A.; Sutherland, D. R.; Schuh, A. C.; Kanz,
L.; Buhring, H.-J.: Antibody W7C5 defines a CD109 epitope expressed
on CD34+ and CD34- hematopoietic and mesenchymal stem cell subsets. Ann.
New York Acad. Sci. 996: 227-230, 2003.
2. Kelton, J. G.; Smith, J. W.; Horsewood, P.; Humbert, J. R.; Hayward,
C. P. M.; Warkentin, T. E.: Gov(a/b) alloantigen system on human
platelets. Blood 75: 2172-2176, 1990.
3. Lin, M.; Sutherland, D. R.; Horsfall, W.; Totty, N.; Yeo, E.; Nayar,
R.; Wu, X.-F.; Schuh, A. C.: Cell surface antigen CD109 is a novel
member of the alpha-2 macroglobulin/C3, C4, C5 family of thioester-containing
proteins. Blood 99: 1683-1691, 2002.
4. Schuh, A. C.; Watkins, N. A.; Nguyen, Q.; Harmer, N. J.; Lin, M.;
Prosper, J. Y. A.; Campbell, K.; Sutherland, D. R.; Metcalfe, P.;
Horsfall, W.; Ouwehand, W. H.: A tyrosine703serine polymorphism of
CD109 defines the Gov platelet alloantigens. Blood 99: 1692-1698,
2002.
5. Solomon, K. R.; Sharma, P.; Chan, M.; Morrison, P. T.; Finberg,
R. W.: CD109 represents a novel branch of the alpha-2-macroglobulin/complement
gene family. Gene 327: 171-183, 2004.
*FIELD* CD
Laura L. Baxter: 8/19/2004
*FIELD* ED
terry: 11/04/2004
carol: 8/20/2004