Full text data of CD63
CD63
(MLA1, TSPAN30)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
CD63 antigen (Granulophysin; Lysosomal-associated membrane protein 3; LAMP-3; Melanoma-associated antigen ME491; OMA81H; Ocular melanoma-associated antigen; Tetraspanin-30; Tspan-30; CD63)
CD63 antigen (Granulophysin; Lysosomal-associated membrane protein 3; LAMP-3; Melanoma-associated antigen ME491; OMA81H; Ocular melanoma-associated antigen; Tetraspanin-30; Tspan-30; CD63)
UniProt
P08962
ID CD63_HUMAN Reviewed; 238 AA.
AC P08962; F8VZE2; Q5TZP3; Q8N6Z9; Q9UCG6;
DT 01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 144.
DE RecName: Full=CD63 antigen;
DE AltName: Full=Granulophysin;
DE AltName: Full=Lysosomal-associated membrane protein 3;
DE Short=LAMP-3;
DE AltName: Full=Melanoma-associated antigen ME491;
DE AltName: Full=OMA81H;
DE AltName: Full=Ocular melanoma-associated antigen;
DE AltName: Full=Tetraspanin-30;
DE Short=Tspan-30;
DE AltName: CD_antigen=CD63;
GN Name=CD63; Synonyms=MLA1, TSPAN30;
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).
RX PubMed=3365686;
RA Hotta H., Ross A.H., Huebner K., Isobe M., Wendeborn S., Chao M.V.,
RA Ricciardi R.P., Tsujimoto Y., Croce C.M., Koprowski H.;
RT "Molecular cloning and characterization of an antigen associated with
RT early stages of melanoma tumor progression.";
RL Cancer Res. 48:2955-2962(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
RX PubMed=2171551; DOI=10.1089/dna.1990.9.479;
RA Rapp G., Freudenstein J., Klaudiny J., Mucha J., Wempe F., Zimmer M.,
RA Scheit K.H.;
RT "Characterization of three abundant mRNAs from human ovarian granulosa
RT cells.";
RL DNA Cell Biol. 9:479-485(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND SUBCELLULAR LOCATION.
RX PubMed=1993697;
RA Metzelaar M.J., Wigngaard P.L., Peters P.J., Sixma J.J.,
RA Nieuwenhuis H.K., Clevers H.C.;
RT "CD63 antigen. A novel lysosomal membrane glycoprotein, cloned by a
RT screening procedure for intracellular antigens in eukaryotic cells.";
RL J. Biol. Chem. 266:3239-3245(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=1339263; DOI=10.1001/archopht.1992.01080150097036;
RA Wang M.X., Earley J.J. Jr., Shields J.A., Donoso L.A.;
RT "An ocular melanoma-associated antigen. Molecular characterization.";
RL Arch. Ophthalmol. 110:399-404(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1599482; DOI=10.1016/S0006-291X(05)81004-6;
RA Hotta H., Miyamoto H., Hara I., Takahashi N., Homma M.;
RT "Genomic structure of the ME491/CD63 antigen gene and functional
RT analysis of the 5'-flanking regulatory sequences.";
RL Biochem. Biophys. Res. Commun. 185:436-442(1992).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Skin;
RA Ancans J., Suzuki I., Thody A.J.;
RT "Melanocyte variant of lysosome-associated membrane protein-3 (LAMP3;
RT also CD63 and melanoma associated antigen ME419) mRNA.";
RL Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
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 [LARGE SCALE MRNA] (ISOFORM 1).
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
RA Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
RA Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
RA Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
RA Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
RA Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
RA Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
RA Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
RA Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
RA Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
RA Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
RA Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
RA Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
RA Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
RA Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
RA Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
RA Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
RA Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
RA Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
RA Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
RA Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
RA Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
RA Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
RA Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
RA Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
RA Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
RA Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
RA Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
RA Kucherlapati R., Weinstock G., Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [11]
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 [12]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Muscle;
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 [13]
RP PROTEIN SEQUENCE OF 2-38 (ISOFORM 1), SUBCELLULAR LOCATION, AND LACK
RP OF EXPRESSION IN HERMANSKY-PUDLAK SYNDROME.
RC TISSUE=Platelet;
RX PubMed=7682577; DOI=10.1172/JCI116388;
RA Nishibori M., Cham B., McNicol A., Shalev A., Jain N., Gerrard J.M.;
RT "The protein CD63 is in platelet dense granules, is deficient in a
RT patient with Hermansky-Pudlak syndrome, and appears identical to
RT granulophysin.";
RL J. Clin. Invest. 91:1775-1782(1993).
RN [14]
RP PROTEIN SEQUENCE OF 2-21 (ISOFORMS 1/2).
RX PubMed=4062294; DOI=10.1016/0003-9861(85)90241-3;
RA Ross A.H., Dietzschold B., Jackson D.M., Earley J.J., Ghrist B.F.D.,
RA Atkinson B., Koprowski H.;
RT "Isolation and amino terminal sequencing of a novel melanoma-
RT associated antigen.";
RL Arch. Biochem. Biophys. 242:540-548(1985).
RN [15]
RP SUBCELLULAR LOCATION.
RX PubMed=10793155; DOI=10.1091/mbc.11.5.1829;
RA Kobayashi T., Vischer U.M., Rosnoblet C., Lebrand C., Lindsay M.,
RA Parton R.G., Kruithof E.K.O., Gruenberg J.;
RT "The tetraspanin CD63/lamp3 cycles between endocytic and secretory
RT compartments in human endothelial cells.";
RL Mol. Biol. Cell 11:1829-1843(2000).
RN [16]
RP GLYCOSYLATION AT ASN-130.
RX PubMed=12754519; DOI=10.1038/nbt827;
RA Zhang H., Li X.-J., Martin D.B., Aebersold R.;
RT "Identification and quantification of N-linked glycoproteins using
RT hydrazide chemistry, stable isotope labeling and mass spectrometry.";
RL Nat. Biotechnol. 21:660-666(2003).
RN [17]
RP SUBCELLULAR LOCATION.
RX PubMed=15351990; DOI=10.1002/cyto.a.20068;
RA Gruetzkau A., Smorodchenko A., Lippert U., Kirchhof L., Artuc M.,
RA Henz B.M.;
RT "LAMP-1 and LAMP-2, but not LAMP-3, are reliable markers for
RT activation-induced secretion of human mast cells.";
RL Cytometry 61:62-68(2004).
RN [18]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Placenta;
RX PubMed=17897319; DOI=10.1111/j.1600-0854.2007.00643.x;
RA Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B.,
RA Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.;
RT "Integral and associated lysosomal membrane proteins.";
RL Traffic 8:1676-1686(2007).
RN [19]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-130, 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 [20]
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: This antigen is associated with early stages of melanoma
CC tumor progression. May play a role in growth regulation.
CC -!- INTERACTION:
CC P01033:TIMP1; NbExp=5; IntAct=EBI-762053, EBI-712536;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC Lysosome membrane; Multi-pass membrane protein. Late endosome
CC membrane; Multi-pass membrane protein. Note=Also found in Weibel-
CC Palade bodies of endothelial cells. Located in platelet dense
CC granules.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P08962-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P08962-2; Sequence=VSP_045300;
CC Name=3;
CC IsoId=P08962-3; Sequence=VSP_046996;
CC Note=Gene prediction based on EST data;
CC -!- TISSUE SPECIFICITY: Dysplastic nevi, radial growth phase primary
CC melanomas, hematopoietic cells, tissue macrophages.
CC -!- MISCELLANEOUS: Lack of expression of CD63 in platelets has been
CC observed in a patient with Hermansky-Pudlak syndrome (HPS).
CC Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous,
CC rare, autosomal recessive disorder characterized by oculocutaneous
CC albinism, bleeding due to platelet storage pool deficiency, and
CC lysosomal storage defects. This syndrome results from defects of
CC diverse cytoplasmic organelles including melanosomes, platelet
CC dense granules and lysosomes. Ceroid storage in the lungs is
CC associated with pulmonary fibrosis, a common cause of premature
CC death in individuals with HPS.
CC -!- SIMILARITY: Belongs to the tetraspanin (TM4SF) family.
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DR EMBL; X07982; CAA30792.1; -; mRNA.
DR EMBL; M59907; AAA63235.1; -; mRNA.
DR EMBL; M58485; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; S93788; AAB21617.1; -; mRNA.
DR EMBL; X62654; CAA44519.1; -; Genomic_DNA.
DR EMBL; AF508304; AAM34259.1; -; mRNA.
DR EMBL; AK311893; BAG34834.1; -; mRNA.
DR EMBL; CR542096; CAG46893.1; -; mRNA.
DR EMBL; BT007073; AAP35736.1; -; mRNA.
DR EMBL; BT020137; AAV38939.1; -; mRNA.
DR EMBL; BT020138; AAV38940.1; -; mRNA.
DR EMBL; AC009779; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW96827.1; -; Genomic_DNA.
DR EMBL; BC002349; AAH02349.1; -; mRNA.
DR EMBL; BC013017; AAH13017.1; -; mRNA.
DR PIR; I38016; I38016.
DR RefSeq; NP_001244318.1; NM_001257389.1.
DR RefSeq; NP_001244319.1; NM_001257390.1.
DR RefSeq; NP_001244320.1; NM_001257391.1.
DR RefSeq; NP_001244321.1; NM_001257392.1.
DR RefSeq; NP_001244329.1; NM_001257400.1.
DR RefSeq; NP_001244330.1; NM_001257401.1.
DR RefSeq; NP_001254627.1; NM_001267698.1.
DR RefSeq; NP_001771.1; NM_001780.5.
DR UniGene; Hs.445570; -.
DR ProteinModelPortal; P08962; -.
DR IntAct; P08962; 15.
DR MINT; MINT-2981823; -.
DR STRING; 9606.ENSP00000257857; -.
DR PhosphoSite; P08962; -.
DR DMDM; 116026; -.
DR PaxDb; P08962; -.
DR PRIDE; P08962; -.
DR DNASU; 967; -.
DR Ensembl; ENST00000257857; ENSP00000257857; ENSG00000135404.
DR Ensembl; ENST00000546939; ENSP00000447356; ENSG00000135404.
DR Ensembl; ENST00000549117; ENSP00000447730; ENSG00000135404.
DR Ensembl; ENST00000550776; ENSP00000448091; ENSG00000135404.
DR Ensembl; ENST00000552692; ENSP00000449337; ENSG00000135404.
DR Ensembl; ENST00000552754; ENSP00000446807; ENSG00000135404.
DR GeneID; 967; -.
DR KEGG; hsa:967; -.
DR UCSC; uc001shn.4; human.
DR CTD; 967; -.
DR GeneCards; GC12M056119; -.
DR HGNC; HGNC:1692; CD63.
DR HPA; CAB026356; -.
DR HPA; HPA010088; -.
DR MIM; 155740; gene.
DR neXtProt; NX_P08962; -.
DR PharmGKB; PA26231; -.
DR eggNOG; NOG268658; -.
DR HOGENOM; HOG000230651; -.
DR HOVERGEN; HBG107306; -.
DR InParanoid; P08962; -.
DR KO; K06497; -.
DR OMA; MITFAVF; -.
DR PhylomeDB; P08962; -.
DR Reactome; REACT_604; Hemostasis.
DR ChiTaRS; CD63; human.
DR GeneWiki; CD63; -.
DR GenomeRNAi; 967; -.
DR NextBio; 4044; -.
DR PRO; PR:P08962; -.
DR ArrayExpress; P08962; -.
DR Bgee; P08962; -.
DR CleanEx; HS_CD63; -.
DR Genevestigator; P08962; -.
DR GO; GO:0009986; C:cell surface; IDA:MGI.
DR GO; GO:0010008; C:endosome membrane; IDA:MGI.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0031088; C:platelet dense granule membrane; TAS:Reactome.
DR GO; GO:0034613; P:cellular protein localization; IDA:MGI.
DR GO; GO:0030168; P:platelet activation; TAS:Reactome.
DR GO; GO:0002576; P:platelet degranulation; TAS:Reactome.
DR GO; GO:2000680; P:regulation of rubidium ion transport; IDA:MGI.
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 Alternative splicing; Cell membrane; Complete proteome;
KW Direct protein sequencing; Endosome; Glycoprotein; Lysosome; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 238 CD63 antigen.
FT /FTId=PRO_0000219216.
FT TOPO_DOM 2 11 Cytoplasmic (Potential).
FT TRANSMEM 12 32 Helical; (Potential).
FT TOPO_DOM 33 51 Extracellular (Potential).
FT TRANSMEM 52 72 Helical; (Potential).
FT TOPO_DOM 73 81 Cytoplasmic (Potential).
FT TRANSMEM 82 102 Helical; (Potential).
FT TOPO_DOM 103 203 Extracellular (Potential).
FT TRANSMEM 204 224 Helical; (Potential).
FT TOPO_DOM 225 238 Cytoplasmic (Potential).
FT CARBOHYD 130 130 N-linked (GlcNAc...).
FT CARBOHYD 150 150 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 172 172 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 82 Missing (in isoform 3).
FT /FTId=VSP_046996.
FT VAR_SEQ 23 45 Missing (in isoform 2).
FT /FTId=VSP_045300.
FT CONFLICT 36 36 Q -> E (in Ref. 13; AA sequence).
SQ SEQUENCE 238 AA; 25637 MW; 85AC8E235C6E425F CRC64;
MAVEGGMKCV KFLLYVLLLA FCACAVGLIA VGVGAQLVLS QTIIQGATPG SLLPVVIIAV
GVFLFLVAFV GCCGACKENY CLMITFAIFL SLIMLVEVAA AIAGYVFRDK VMSEFNNNFR
QQMENYPKNN HTASILDRMQ ADFKCCGAAN YTDWEKIPSM SKNRVPDSCC INVTVGCGIN
FNEKAIHKEG CVEKIGGWLR KNVLVVAAAA LGIAFVEVLG IVFACCLVKS IRSGYEVM
//
ID CD63_HUMAN Reviewed; 238 AA.
AC P08962; F8VZE2; Q5TZP3; Q8N6Z9; Q9UCG6;
DT 01-NOV-1988, integrated into UniProtKB/Swiss-Prot.
read moreDT 23-JAN-2007, sequence version 2.
DT 22-JAN-2014, entry version 144.
DE RecName: Full=CD63 antigen;
DE AltName: Full=Granulophysin;
DE AltName: Full=Lysosomal-associated membrane protein 3;
DE Short=LAMP-3;
DE AltName: Full=Melanoma-associated antigen ME491;
DE AltName: Full=OMA81H;
DE AltName: Full=Ocular melanoma-associated antigen;
DE AltName: Full=Tetraspanin-30;
DE Short=Tspan-30;
DE AltName: CD_antigen=CD63;
GN Name=CD63; Synonyms=MLA1, TSPAN30;
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).
RX PubMed=3365686;
RA Hotta H., Ross A.H., Huebner K., Isobe M., Wendeborn S., Chao M.V.,
RA Ricciardi R.P., Tsujimoto Y., Croce C.M., Koprowski H.;
RT "Molecular cloning and characterization of an antigen associated with
RT early stages of melanoma tumor progression.";
RL Cancer Res. 48:2955-2962(1988).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Ovary;
RX PubMed=2171551; DOI=10.1089/dna.1990.9.479;
RA Rapp G., Freudenstein J., Klaudiny J., Mucha J., Wempe F., Zimmer M.,
RA Scheit K.H.;
RT "Characterization of three abundant mRNAs from human ovarian granulosa
RT cells.";
RL DNA Cell Biol. 9:479-485(1990).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND SUBCELLULAR LOCATION.
RX PubMed=1993697;
RA Metzelaar M.J., Wigngaard P.L., Peters P.J., Sixma J.J.,
RA Nieuwenhuis H.K., Clevers H.C.;
RT "CD63 antigen. A novel lysosomal membrane glycoprotein, cloned by a
RT screening procedure for intracellular antigens in eukaryotic cells.";
RL J. Biol. Chem. 266:3239-3245(1991).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=1339263; DOI=10.1001/archopht.1992.01080150097036;
RA Wang M.X., Earley J.J. Jr., Shields J.A., Donoso L.A.;
RT "An ocular melanoma-associated antigen. Molecular characterization.";
RL Arch. Ophthalmol. 110:399-404(1992).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1599482; DOI=10.1016/S0006-291X(05)81004-6;
RA Hotta H., Miyamoto H., Hara I., Takahashi N., Homma M.;
RT "Genomic structure of the ME491/CD63 antigen gene and functional
RT analysis of the 5'-flanking regulatory sequences.";
RL Biochem. Biophys. Res. Commun. 185:436-442(1992).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RC TISSUE=Skin;
RA Ancans J., Suzuki I., Thody A.J.;
RT "Melanocyte variant of lysosome-associated membrane protein-3 (LAMP3;
RT also CD63 and melanoma associated antigen ME419) mRNA.";
RL Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Skeletal muscle;
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 [LARGE SCALE MRNA] (ISOFORM 1).
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 [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
RA Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
RA Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
RA Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
RA Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
RA Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
RA Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
RA Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
RA Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
RA Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
RA Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
RA Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
RA Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
RA Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
RA Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
RA Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
RA Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
RA Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
RA Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
RA Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
RA Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
RA Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
RA Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
RA Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
RA Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
RA Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
RA Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
RA Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
RA Kucherlapati R., Weinstock G., Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [11]
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 [12]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Lung, and Muscle;
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 [13]
RP PROTEIN SEQUENCE OF 2-38 (ISOFORM 1), SUBCELLULAR LOCATION, AND LACK
RP OF EXPRESSION IN HERMANSKY-PUDLAK SYNDROME.
RC TISSUE=Platelet;
RX PubMed=7682577; DOI=10.1172/JCI116388;
RA Nishibori M., Cham B., McNicol A., Shalev A., Jain N., Gerrard J.M.;
RT "The protein CD63 is in platelet dense granules, is deficient in a
RT patient with Hermansky-Pudlak syndrome, and appears identical to
RT granulophysin.";
RL J. Clin. Invest. 91:1775-1782(1993).
RN [14]
RP PROTEIN SEQUENCE OF 2-21 (ISOFORMS 1/2).
RX PubMed=4062294; DOI=10.1016/0003-9861(85)90241-3;
RA Ross A.H., Dietzschold B., Jackson D.M., Earley J.J., Ghrist B.F.D.,
RA Atkinson B., Koprowski H.;
RT "Isolation and amino terminal sequencing of a novel melanoma-
RT associated antigen.";
RL Arch. Biochem. Biophys. 242:540-548(1985).
RN [15]
RP SUBCELLULAR LOCATION.
RX PubMed=10793155; DOI=10.1091/mbc.11.5.1829;
RA Kobayashi T., Vischer U.M., Rosnoblet C., Lebrand C., Lindsay M.,
RA Parton R.G., Kruithof E.K.O., Gruenberg J.;
RT "The tetraspanin CD63/lamp3 cycles between endocytic and secretory
RT compartments in human endothelial cells.";
RL Mol. Biol. Cell 11:1829-1843(2000).
RN [16]
RP GLYCOSYLATION AT ASN-130.
RX PubMed=12754519; DOI=10.1038/nbt827;
RA Zhang H., Li X.-J., Martin D.B., Aebersold R.;
RT "Identification and quantification of N-linked glycoproteins using
RT hydrazide chemistry, stable isotope labeling and mass spectrometry.";
RL Nat. Biotechnol. 21:660-666(2003).
RN [17]
RP SUBCELLULAR LOCATION.
RX PubMed=15351990; DOI=10.1002/cyto.a.20068;
RA Gruetzkau A., Smorodchenko A., Lippert U., Kirchhof L., Artuc M.,
RA Henz B.M.;
RT "LAMP-1 and LAMP-2, but not LAMP-3, are reliable markers for
RT activation-induced secretion of human mast cells.";
RL Cytometry 61:62-68(2004).
RN [18]
RP SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS], AND MASS SPECTROMETRY.
RC TISSUE=Placenta;
RX PubMed=17897319; DOI=10.1111/j.1600-0854.2007.00643.x;
RA Schroeder B., Wrocklage C., Pan C., Jaeger R., Koesters B.,
RA Schaefer H., Elsaesser H.-P., Mann M., Hasilik A.;
RT "Integral and associated lysosomal membrane proteins.";
RL Traffic 8:1676-1686(2007).
RN [19]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-130, 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 [20]
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: This antigen is associated with early stages of melanoma
CC tumor progression. May play a role in growth regulation.
CC -!- INTERACTION:
CC P01033:TIMP1; NbExp=5; IntAct=EBI-762053, EBI-712536;
CC -!- SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
CC Lysosome membrane; Multi-pass membrane protein. Late endosome
CC membrane; Multi-pass membrane protein. Note=Also found in Weibel-
CC Palade bodies of endothelial cells. Located in platelet dense
CC granules.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=P08962-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P08962-2; Sequence=VSP_045300;
CC Name=3;
CC IsoId=P08962-3; Sequence=VSP_046996;
CC Note=Gene prediction based on EST data;
CC -!- TISSUE SPECIFICITY: Dysplastic nevi, radial growth phase primary
CC melanomas, hematopoietic cells, tissue macrophages.
CC -!- MISCELLANEOUS: Lack of expression of CD63 in platelets has been
CC observed in a patient with Hermansky-Pudlak syndrome (HPS).
CC Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous,
CC rare, autosomal recessive disorder characterized by oculocutaneous
CC albinism, bleeding due to platelet storage pool deficiency, and
CC lysosomal storage defects. This syndrome results from defects of
CC diverse cytoplasmic organelles including melanosomes, platelet
CC dense granules and lysosomes. Ceroid storage in the lungs is
CC associated with pulmonary fibrosis, a common cause of premature
CC death in individuals with HPS.
CC -!- SIMILARITY: Belongs to the tetraspanin (TM4SF) family.
CC -----------------------------------------------------------------------
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DR EMBL; X07982; CAA30792.1; -; mRNA.
DR EMBL; M59907; AAA63235.1; -; mRNA.
DR EMBL; M58485; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; S93788; AAB21617.1; -; mRNA.
DR EMBL; X62654; CAA44519.1; -; Genomic_DNA.
DR EMBL; AF508304; AAM34259.1; -; mRNA.
DR EMBL; AK311893; BAG34834.1; -; mRNA.
DR EMBL; CR542096; CAG46893.1; -; mRNA.
DR EMBL; BT007073; AAP35736.1; -; mRNA.
DR EMBL; BT020137; AAV38939.1; -; mRNA.
DR EMBL; BT020138; AAV38940.1; -; mRNA.
DR EMBL; AC009779; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471054; EAW96827.1; -; Genomic_DNA.
DR EMBL; BC002349; AAH02349.1; -; mRNA.
DR EMBL; BC013017; AAH13017.1; -; mRNA.
DR PIR; I38016; I38016.
DR RefSeq; NP_001244318.1; NM_001257389.1.
DR RefSeq; NP_001244319.1; NM_001257390.1.
DR RefSeq; NP_001244320.1; NM_001257391.1.
DR RefSeq; NP_001244321.1; NM_001257392.1.
DR RefSeq; NP_001244329.1; NM_001257400.1.
DR RefSeq; NP_001244330.1; NM_001257401.1.
DR RefSeq; NP_001254627.1; NM_001267698.1.
DR RefSeq; NP_001771.1; NM_001780.5.
DR UniGene; Hs.445570; -.
DR ProteinModelPortal; P08962; -.
DR IntAct; P08962; 15.
DR MINT; MINT-2981823; -.
DR STRING; 9606.ENSP00000257857; -.
DR PhosphoSite; P08962; -.
DR DMDM; 116026; -.
DR PaxDb; P08962; -.
DR PRIDE; P08962; -.
DR DNASU; 967; -.
DR Ensembl; ENST00000257857; ENSP00000257857; ENSG00000135404.
DR Ensembl; ENST00000546939; ENSP00000447356; ENSG00000135404.
DR Ensembl; ENST00000549117; ENSP00000447730; ENSG00000135404.
DR Ensembl; ENST00000550776; ENSP00000448091; ENSG00000135404.
DR Ensembl; ENST00000552692; ENSP00000449337; ENSG00000135404.
DR Ensembl; ENST00000552754; ENSP00000446807; ENSG00000135404.
DR GeneID; 967; -.
DR KEGG; hsa:967; -.
DR UCSC; uc001shn.4; human.
DR CTD; 967; -.
DR GeneCards; GC12M056119; -.
DR HGNC; HGNC:1692; CD63.
DR HPA; CAB026356; -.
DR HPA; HPA010088; -.
DR MIM; 155740; gene.
DR neXtProt; NX_P08962; -.
DR PharmGKB; PA26231; -.
DR eggNOG; NOG268658; -.
DR HOGENOM; HOG000230651; -.
DR HOVERGEN; HBG107306; -.
DR InParanoid; P08962; -.
DR KO; K06497; -.
DR OMA; MITFAVF; -.
DR PhylomeDB; P08962; -.
DR Reactome; REACT_604; Hemostasis.
DR ChiTaRS; CD63; human.
DR GeneWiki; CD63; -.
DR GenomeRNAi; 967; -.
DR NextBio; 4044; -.
DR PRO; PR:P08962; -.
DR ArrayExpress; P08962; -.
DR Bgee; P08962; -.
DR CleanEx; HS_CD63; -.
DR Genevestigator; P08962; -.
DR GO; GO:0009986; C:cell surface; IDA:MGI.
DR GO; GO:0010008; C:endosome membrane; IDA:MGI.
DR GO; GO:0005887; C:integral to plasma membrane; TAS:ProtInc.
DR GO; GO:0031902; C:late endosome membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0031088; C:platelet dense granule membrane; TAS:Reactome.
DR GO; GO:0034613; P:cellular protein localization; IDA:MGI.
DR GO; GO:0030168; P:platelet activation; TAS:Reactome.
DR GO; GO:0002576; P:platelet degranulation; TAS:Reactome.
DR GO; GO:2000680; P:regulation of rubidium ion transport; IDA:MGI.
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 Alternative splicing; Cell membrane; Complete proteome;
KW Direct protein sequencing; Endosome; Glycoprotein; Lysosome; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT INIT_MET 1 1 Removed.
FT CHAIN 2 238 CD63 antigen.
FT /FTId=PRO_0000219216.
FT TOPO_DOM 2 11 Cytoplasmic (Potential).
FT TRANSMEM 12 32 Helical; (Potential).
FT TOPO_DOM 33 51 Extracellular (Potential).
FT TRANSMEM 52 72 Helical; (Potential).
FT TOPO_DOM 73 81 Cytoplasmic (Potential).
FT TRANSMEM 82 102 Helical; (Potential).
FT TOPO_DOM 103 203 Extracellular (Potential).
FT TRANSMEM 204 224 Helical; (Potential).
FT TOPO_DOM 225 238 Cytoplasmic (Potential).
FT CARBOHYD 130 130 N-linked (GlcNAc...).
FT CARBOHYD 150 150 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 172 172 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 82 Missing (in isoform 3).
FT /FTId=VSP_046996.
FT VAR_SEQ 23 45 Missing (in isoform 2).
FT /FTId=VSP_045300.
FT CONFLICT 36 36 Q -> E (in Ref. 13; AA sequence).
SQ SEQUENCE 238 AA; 25637 MW; 85AC8E235C6E425F CRC64;
MAVEGGMKCV KFLLYVLLLA FCACAVGLIA VGVGAQLVLS QTIIQGATPG SLLPVVIIAV
GVFLFLVAFV GCCGACKENY CLMITFAIFL SLIMLVEVAA AIAGYVFRDK VMSEFNNNFR
QQMENYPKNN HTASILDRMQ ADFKCCGAAN YTDWEKIPSM SKNRVPDSCC INVTVGCGIN
FNEKAIHKEG CVEKIGGWLR KNVLVVAAAA LGIAFVEVLG IVFACCLVKS IRSGYEVM
//
MIM
155740
*RECORD*
*FIELD* NO
155740
*FIELD* TI
*155740 CD63 ANTIGEN; CD63
;;MELANOMA-ASSOCIATED ANTIGEN MLA1; MLA1;;
MELANOMA-ASSOCIATED ANTIGEN ME491;;
read moreGRANULOPHYSIN
*FIELD* TX
The melanoma-associated antigen ME491 is expressed strongly during early
stages of progression of the tumor. Hotta et al. (1988) cloned the gene
by means of DNA-mediated gene transfer followed by the screening of a
lambda genomic library with human repetitive Alu sequences as a probe.
The cloned DNA, after transcription into mouse L-cells, generated a
protein whose characteristics were indistinguishable in Western blot
analysis from the ME491 antigen expressed by human melanoma cells. The
sequence of the cDNA indicates that the antigen has 237 amino acids
(molecular weight 25,475) with 4 transmembrane regions and 3 putative
N-glycosylation sites. The gene was mapped to 12p12-q13 by somatic cell
hybrid analysis and to 12q12-q14 by in situ hybridization.
Nishibori et al. (1993) used immunofluorescence with anti-CD63 and
anti-granulophysin antibodies to demonstrate deficiency of these
proteins in Hermansky-Pudlak syndrome (HPS; 203300). It appeared that
these antibodies recognized the same protein, and amino-terminal
sequencing over the first 37 amino acids revealed identity of
granulophysin to CD63, melanoma antigen ME491, and pltgp40. This was the
first report of a protein present in platelet dense granules, lysosomes,
and melanocytes, but deficient in a patient with HPS. Clarification as
to whether deficiency in CD63 is the primary defect in HPS will await
molecular characterization of the CD63 gene in patients with this
disorder. That the primary defect resides in the CD63 gene was made
unlikely by the demonstration by Fukai et al. (1995) that the HPS gene
maps to chromosome 10, not chromosome 12.
Gwynn et al. (1996) found that the cDNA encoding mouse CD63 detects 2
closely-related sequences that map to different regions of the mouse
genome. One locus maps to mouse chromosome 10 in a region that shares
linkage homology with chromosome 12 where human CD63 maps. The second
locus maps to mouse chromosome 18 in a region that bears no known human
CD63-related genes. The chromosome 18 locus in the mouse was designated
by the authors Cd63-rs1 (for CD63-related sequence 1). No platelet
storage pool deficiency disorder has been mapped to these regions of
either mouse chromosome 18 or human chromosome 12.
*FIELD* SA
Metzelaar et al. (1991)
*FIELD* RF
1. Fukai, K.; Oh, J.; Frenk, E.; Almodovar, C.; Spritz, R. A.: Linkage
disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to
chromosome 10q23.1-q23.3. Hum. Molec. Genet. 4: 1665-1669, 1995.
2. Gwynn, B.; Eicher, E. M.; Peters, L. L.: Genetic localization
of Cd63, a member of the transmembrane 4 superfamily, reveals two
distinct loci in the mouse genome. Genomics 35: 389-391, 1996.
3. Hotta, H.; Ross, A. H.; Huebner, K.; Isobe, M.; Wendeborn, S.;
Chao, M. V.; Ricciardi, R. P.; Tsujimoto, Y.; Croce, C. M.; Koprowski,
H.: Molecular cloning and characterization of an antigen associated
with early stages of melanoma tumor progression. Cancer Res. 48:
2955-2962, 1988.
4. Metzelaar, M. J.; Wijngaard, P. L. J.; Peters, P. J.; Sixma, J.
J.; Nieuwenhuis, H. K.; Clevers, H. C.: CD63 antigen: a novel lysosomal
membrane glycoprotein, cloned by a screening procedure for intracellular
antigens in eukaryotic cells. J. Biol. Chem. 266: 3239-3245, 1991.
5. Nishibori, M.; Cham, B.; McNicol, A.; Shalev, A.; Jain, N.; Gerrard,
J. M.: The protein CD63 is in platelet dense granules, is deficient
in a patient with Hermansky-Pudlak syndrome, and appears identical
to granulophysin. J. Clin. Invest. 91: 1775-1782, 1993.
*FIELD* CD
Victor A. McKusick: 3/31/1989
*FIELD* ED
terry: 09/09/1996
terry: 9/6/1996
terry: 8/6/1996
mark: 9/22/1995
carol: 5/12/1993
carol: 9/2/1992
carol: 8/28/1992
supermim: 3/16/1992
supermim: 3/20/1990
*RECORD*
*FIELD* NO
155740
*FIELD* TI
*155740 CD63 ANTIGEN; CD63
;;MELANOMA-ASSOCIATED ANTIGEN MLA1; MLA1;;
MELANOMA-ASSOCIATED ANTIGEN ME491;;
read moreGRANULOPHYSIN
*FIELD* TX
The melanoma-associated antigen ME491 is expressed strongly during early
stages of progression of the tumor. Hotta et al. (1988) cloned the gene
by means of DNA-mediated gene transfer followed by the screening of a
lambda genomic library with human repetitive Alu sequences as a probe.
The cloned DNA, after transcription into mouse L-cells, generated a
protein whose characteristics were indistinguishable in Western blot
analysis from the ME491 antigen expressed by human melanoma cells. The
sequence of the cDNA indicates that the antigen has 237 amino acids
(molecular weight 25,475) with 4 transmembrane regions and 3 putative
N-glycosylation sites. The gene was mapped to 12p12-q13 by somatic cell
hybrid analysis and to 12q12-q14 by in situ hybridization.
Nishibori et al. (1993) used immunofluorescence with anti-CD63 and
anti-granulophysin antibodies to demonstrate deficiency of these
proteins in Hermansky-Pudlak syndrome (HPS; 203300). It appeared that
these antibodies recognized the same protein, and amino-terminal
sequencing over the first 37 amino acids revealed identity of
granulophysin to CD63, melanoma antigen ME491, and pltgp40. This was the
first report of a protein present in platelet dense granules, lysosomes,
and melanocytes, but deficient in a patient with HPS. Clarification as
to whether deficiency in CD63 is the primary defect in HPS will await
molecular characterization of the CD63 gene in patients with this
disorder. That the primary defect resides in the CD63 gene was made
unlikely by the demonstration by Fukai et al. (1995) that the HPS gene
maps to chromosome 10, not chromosome 12.
Gwynn et al. (1996) found that the cDNA encoding mouse CD63 detects 2
closely-related sequences that map to different regions of the mouse
genome. One locus maps to mouse chromosome 10 in a region that shares
linkage homology with chromosome 12 where human CD63 maps. The second
locus maps to mouse chromosome 18 in a region that bears no known human
CD63-related genes. The chromosome 18 locus in the mouse was designated
by the authors Cd63-rs1 (for CD63-related sequence 1). No platelet
storage pool deficiency disorder has been mapped to these regions of
either mouse chromosome 18 or human chromosome 12.
*FIELD* SA
Metzelaar et al. (1991)
*FIELD* RF
1. Fukai, K.; Oh, J.; Frenk, E.; Almodovar, C.; Spritz, R. A.: Linkage
disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to
chromosome 10q23.1-q23.3. Hum. Molec. Genet. 4: 1665-1669, 1995.
2. Gwynn, B.; Eicher, E. M.; Peters, L. L.: Genetic localization
of Cd63, a member of the transmembrane 4 superfamily, reveals two
distinct loci in the mouse genome. Genomics 35: 389-391, 1996.
3. Hotta, H.; Ross, A. H.; Huebner, K.; Isobe, M.; Wendeborn, S.;
Chao, M. V.; Ricciardi, R. P.; Tsujimoto, Y.; Croce, C. M.; Koprowski,
H.: Molecular cloning and characterization of an antigen associated
with early stages of melanoma tumor progression. Cancer Res. 48:
2955-2962, 1988.
4. Metzelaar, M. J.; Wijngaard, P. L. J.; Peters, P. J.; Sixma, J.
J.; Nieuwenhuis, H. K.; Clevers, H. C.: CD63 antigen: a novel lysosomal
membrane glycoprotein, cloned by a screening procedure for intracellular
antigens in eukaryotic cells. J. Biol. Chem. 266: 3239-3245, 1991.
5. Nishibori, M.; Cham, B.; McNicol, A.; Shalev, A.; Jain, N.; Gerrard,
J. M.: The protein CD63 is in platelet dense granules, is deficient
in a patient with Hermansky-Pudlak syndrome, and appears identical
to granulophysin. J. Clin. Invest. 91: 1775-1782, 1993.
*FIELD* CD
Victor A. McKusick: 3/31/1989
*FIELD* ED
terry: 09/09/1996
terry: 9/6/1996
terry: 8/6/1996
mark: 9/22/1995
carol: 5/12/1993
carol: 9/2/1992
carol: 8/28/1992
supermim: 3/16/1992
supermim: 3/20/1990