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    CD63 CD63 molecule [ Homo sapiens ]

    Gene ID: 967, updated on 11-May-2012

    Summary

    Official Symbol
    CD63provided by HGNC
    Official Full Name
    CD63 moleculeprovided by HGNC
    Primary source
    HGNC:1692
    See related
    Ensembl:ENSG00000135404; HPRD:01121; MIM:155740; Vega:OTTHUMG00000170454
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MLA1; ME491; LAMP-3; OMA81H; TSPAN30
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]

    Genomic context

    Location :
    12q12-q13
    Sequence :
    Chromosome: 12; NC_000012.11 (56119230..56122910, complement)
    See CD63 in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene BLOC1S1-RDH5 readthrough Neighboring gene biogenesis of lysosomal organelles complex-1, subunit 1 Neighboring gene retinol dehydrogenase 5 (11-cis/9-cis) Neighboring gene growth differentiation factor 11 Neighboring gene SAP domain containing ribonucleoprotein Neighboring gene ORM1-like 2 (S. cerevisiae) Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 14

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    capsid gag In human macrophages, HIV-1 Capsid (p24) co-localizes with MHC II (HLA-DR), CD63, and Lamp1 in MHC II compartments PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P08962 O00189 AP4M1    HPRD  PubMed  
    P08962 P27701 CD82    HPRD  PubMed  
    P08962 P21926 CD9    HPRD  PubMed  
    P08962 P28068 HLA-DMB    HPRD  PubMed  
    P08962 P01903 HLA-DRA    HPRD  PubMed  
    P08962 P23229 ITGA6    HPRD  PubMed  
    P08962 Phosphatidylinositol 4 kinase type II PI4K2A    HPRD  PubMed  
    P08962 Q9P2B2 PTGFRN    HPRD  PubMed  
    P08962 P01033 TIMP1    HPRD  PubMed  
    BioGRID:107405 BioGRID:107413 CD81    BioGRID  PubMed Co-fractionation 
    BioGRID:107405 BioGRID:109935 CD82    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:107366 CD9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:109354 HLA-DMB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:109357 HLA-DOB    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:109367 HLA-DRA    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:109894 ITGB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:110015 KIT    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:111710 PTGFRN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:107405 BioGRID:116470 RNF13    BioGRID  PubMed Co-localization 
    BioGRID:107405 BioGRID:112600 SRF    BioGRID  PubMed Two-hybrid 
    BioGRID:107405 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:107405 BioGRID:1205537 gag    BioGRID  PubMed Co-fractionation 
    BioGRID:107405 BioGRID:1205539 vif    BioGRID  PubMed Co-fractionation 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Lysosome, organism-specific biosystem (from KEGG)
      Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Lysosome, conserved biosystem (from KEGG)
      Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    platelet activation TAS
    Traceable Author Statement
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral to plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    late endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet dense granule membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    CD63 antigen
    Names
    CD63 antigen
    tspan-30
    granulophysin
    tetraspanin-30
    melanoma-associated antigen MLA1
    CD63 antigen (melanoma 1 antigen)
    melanoma-associated antigen ME491
    ocular melanoma-associated antigen
    lysosomal-associated membrane protein 3
    lysosome-associated membrane glycoprotein 3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008347.1 RefSeqGene

      Range
      4454..8684
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001257389.1NP_001244318.1  CD63 antigen isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' UTR exon, compared to variant 1. Variants 1 and 3-6 encode the same isoform A.
      Source sequence(s)
      BU960599, CB128206, CD250685, CN296813
      Conserved Domains (2) summary
      cd03166
      Location:105202
      Blast Score: 440
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
      pfam00335
      Location:9231
      Blast Score: 324
      Tetraspannin; Tetraspanin family
    2. NM_001257390.1NP_001244319.1  CD63 antigen isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' UTR exon, compared to variant 1. Variants 1 and 3-6 encode the same isoform A.
      Source sequence(s)
      BG478842, BU960599
      Conserved Domains (2) summary
      cd03166
      Location:105202
      Blast Score: 440
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
      pfam00335
      Location:9231
      Blast Score: 324
      Tetraspannin; Tetraspanin family
    3. NM_001257391.1NP_001244320.1  CD63 antigen isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' UTR segment, compared to variant 1. Variants 1 and 3-6 encode the same isoform A.
      Source sequence(s)
      AL582859, BE407235, BU960599
      Conserved Domains (2) summary
      cd03166
      Location:105202
      Blast Score: 440
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
      pfam00335
      Location:9231
      Blast Score: 324
      Tetraspannin; Tetraspanin family
    4. NM_001257392.1NP_001244321.1  CD63 antigen isoform C

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (C) lacks an internal segment, compared to isoform A.
      Source sequence(s)
      AF508304, BU960599, CN484590
      Conserved Domains (1) summary
      cd03166
      Location:82179
      Blast Score: 435
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
    5. NM_001257400.1NP_001244329.1  CD63 antigen isoform D precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) contains a distinct 5' UTR exon and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (D) has a shorter N-terminus, compared to isoform A. Variants 8 and 9 encode the same isoform D.
      Source sequence(s)
      BC013017, BG766593, BU960599
      Conserved Domains (1) summary
      cd03166
      Location:23120
      Blast Score: 427
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
    6. NM_001257401.1NP_001244330.1  CD63 antigen isoform D precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) contains a distinct 5' UTR exon and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (D) has a shorter N-terminus, compared to isoform A. Variants 8 and 9 encode the same isoform D.
      Source sequence(s)
      BQ434569, BU190521, BU960599
      Conserved Domains (1) summary
      cd03166
      Location:23120
      Blast Score: 427
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
    7. NM_001257405.1NP_001244334.1  CD63 antigen isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has an alternate 5' UTR exon, compared to variant 1. Variants 1 and 3-6 encode the same isoform A.
      Source sequence(s)
      BU960599, DB495090, EB386351
      Conserved Domains (2) summary
      cd03166
      Location:105202
      Blast Score: 440
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
      pfam00335
      Location:9231
      Blast Score: 324
      Tetraspannin; Tetraspanin family
    8. NM_001780.5NP_001771.1  CD63 antigen isoform A

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (A). Variants 1 and 3-6 encode the same isoform A.
      Source sequence(s)
      BU960599, DB495090, EB386351
      Consensus CDS
      CCDS8890.1
      UniProtKB/Swiss-Prot
      P08962
      Related
      ENSP00000257857, OTTHUMP00000243856, ENST00000257857, OTTHUMT00000409235
      Conserved Domains (2) summary
      cd03166
      Location:105202
      Blast Score: 440
      CD63_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), CD63 family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans ...
      pfam00335
      Location:9231
      Blast Score: 324
      Tetraspannin; Tetraspanin family

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p5 Primary Assembly

      Range
      56119230..56122910, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      53158045..53161726, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040034.1: Suppressed sequence

      Description
      NM_001040034.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC009779.18 (8071..11730) None
    genomic CH471054.1 EAW96827.1
      EAW96828.1
      EAW96829.1
    genomic D00874.1 None
    genomic X62654.1 CAA44519.1
    mRNA AF508304.1 AAM34259.1
    mRNA AK311893.1 BAG34834.1
    mRNA AL582859.3 None
    mRNA AV650763.1 None
    mRNA BC002349.2 AAH02349.1
    mRNA BC013017.2 AAH13017.1
    mRNA BE407235.1 None
    mRNA BG478842.1 None
    mRNA BG766593.1 None
    mRNA BQ434569.1 None
    mRNA BT007073.1 AAP35736.1
    mRNA BT020137.1 AAV38939.1
    mRNA BT020138.1 AAV38940.1
    mRNA BU190521.1 None
    mRNA BU960599.1 None
    mRNA CB128206.1 None
    mRNA CD250685.1 None
    mRNA CN296813.1 None
    mRNA CN296834.1 None
    mRNA CN484590.1 None
    mRNA CR542096.1 CAG46893.1
    mRNA DB495090.1 None
    mRNA EB386351.1 None
    mRNA M58485.1 None
    mRNA M59907.1 AAA63235.1
    mRNA S93788.1 AAB21617.1
    mRNA X07982.1 CAA30792.1
    other-genetic DQ891248.2 ABM82174.1
    other-genetic DQ894433.2 ABM85359.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08962.2 GenPept UniProtKB/Swiss-Prot:P08962
    Q8N6Z9 GenPept UniProtKB/TrEMBL:Q8N6Z9

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