Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CD63 Gene

Aliases for CD63 Gene

  • CD63 Molecule 2 3 5
  • Lysosomal-Associated Membrane Protein 3 3 4
  • Ocular Melanoma-Associated Antigen 3 4
  • CD63 Antigen (Melanoma 1 Antigen) 2 3
  • Melanoma-Associated Antigen ME491 3 4
  • Tetraspanin-30 3 4
  • Granulophysin 3 4
  • Tspan-30 3 4
  • TSPAN30 3 4
  • LAMP-3 3 4
  • OMA81H 3 4
  • MLA1 3 4
  • Lysosome-Associated Membrane Glycoprotein 3 3
  • Melanoma-Associated Antigen MLA1 3
  • CD63 Antigen 4
  • ME491 3

External Ids for CD63 Gene

Previous HGNC Symbols for CD63 Gene

  • MLA1

Previous GeneCards Identifiers for CD63 Gene

  • GC12M056043
  • GC12M056192
  • GC12M055834
  • GC12M054405
  • GC12M056119
  • GC12M053159

Summaries for CD63 Gene

Entrez Gene Summary for CD63 Gene

  • 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]

GeneCards Summary for CD63 Gene

CD63 (CD63 Molecule) is a Protein Coding gene. Diseases associated with CD63 include hermansky-pudlak syndrome and ocular melanoma. Among its related pathways are Platelet activation, signaling and aggregation and Lysosome. An important paralog of this gene is ENSG00000250349.

UniProtKB/Swiss-Prot for CD63 Gene

  • Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli.

Gene Wiki entry for CD63 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD63 Gene

Genomics for CD63 Gene

Regulatory Elements for CD63 Gene

Promoters for CD63 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD63 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD63 Gene

Chromosome:
12
Start:
55,725,323 bp from pter
End:
55,729,707 bp from pter
Size:
4,385 bases
Orientation:
Minus strand

Genomic View for CD63 Gene

Genes around CD63 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD63 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD63 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD63 Gene

Proteins for CD63 Gene

  • Protein details for CD63 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08962-CD63_HUMAN
    Recommended name:
    CD63 antigen
    Protein Accession:
    P08962
    Secondary Accessions:
    • F8VZE2
    • Q5TZP3
    • Q8N6Z9
    • Q9UCG6

    Protein attributes for CD63 Gene

    Size:
    238 amino acids
    Molecular mass:
    25637 Da
    Quaternary structure:
    • Interacts with TIMP1 and ITGB1 and recruits TIMP1 to ITGB1 (PubMed:16917503, PubMed:24635319). Interacts with CD9. Identified in a complex with CD9 and ITGB3 (PubMed:19640571). Interacts with PMEL (PubMed:21962903). Interacts with KDR/VEGFR2; identified in a complex with ITGB1 and KDR/VEGFR2 and is required to recruit KDR to ITGB1 complexes (PubMed:23632027). Interacts with SYT7 (By similarity).
    Miscellaneous:
    • Lack of expression of CD63 in platelets has been observed in a patient with Hermansky-Pudlak syndrome (HPS). Hermansky-Pudlak syndrome (HPS) is a genetically heterogeneous, rare, autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
    • This antigen is associated with early stages of melanoma tumor progression.

    Alternative splice isoforms for CD63 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD63 Gene

Proteomics data for CD63 Gene at MOPED

Post-translational modifications for CD63 Gene

  • Palmitoylated at a low, basal level in unstimulated platelets. The level of palmitoylation increases when platelets are activated by thrombin (in vitro).
  • Ubiquitination at Lys 110
  • Glycosylation at Asn 130, Asn 150, and Asn 172
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for CD63 Gene

Domains & Families for CD63 Gene

Gene Families for CD63 Gene

Suggested Antigen Peptide Sequences for CD63 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08962

UniProtKB/Swiss-Prot:

CD63_HUMAN :
  • Belongs to the tetraspanin (TM4SF) family.
Family:
  • Belongs to the tetraspanin (TM4SF) family.
genes like me logo Genes that share domains with CD63: view

Function for CD63 Gene

Molecular function for CD63 Gene

GENATLAS Biochemistry:
cell differentiation antigen CD63 (melanoma 1 antigen)
UniProtKB/Swiss-Prot Function:
Functions as cell surface receptor for TIMP1 and plays a role in the activation of cellular signaling cascades. Plays a role in the activation of ITGB1 and integrin signaling, leading to the activation of AKT, FAK/PTK2 and MAP kinases. Promotes cell survival, reorganization of the actin cytoskeleton, cell adhesion, spreading and migration, via its role in the activation of AKT and FAK/PTK2. Plays a role in VEGFA signaling via its role in regulating the internalization of KDR/VEGFR2. Plays a role in intracellular vesicular transport processes, and is required for normal trafficking of the PMEL luminal domain that is essential for the development and maturation of melanocytes. Plays a role in the adhesion of leukocytes onto endothelial cells via its role in the regulation of SELP trafficking. May play a role in mast cell degranulation in response to Ms4a2/FceRI stimulation, but not in mast cell degranulation in response to other stimuli.
genes like me logo Genes that share phenotypes with CD63: view

Animal Models for CD63 Gene

MGI Knock Outs for CD63:

Animal Model Products

  • Taconic Biosciences Mouse Models for CD63

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD63 Gene

Localization for CD63 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD63 Gene

Cell membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Late endosome membrane; Multi-pass membrane protein. Endosome, multivesicular body. Melanosome. Secreted, exosome. Note=Also found in Weibel-Palade bodies of endothelial cells. Located in platelet dense granules. Detected in a subset of pre-melanosomes. Detected on intralumenal vesicles (ILVs) within multivesicular bodies.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD63 Gene COMPARTMENTS Subcellular localization image for CD63 gene
Compartment Confidence
endosome 5
extracellular 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 2
golgi apparatus 2
cytosol 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CD63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1993697
genes like me logo Genes that share ontologies with CD63: view

Pathways & Interactions for CD63 Gene

genes like me logo Genes that share pathways with CD63: view

Pathways by source for CD63 Gene

Gene Ontology (GO) - Biological Process for CD63 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002092 positive regulation of receptor internalization IMP 23632027
GO:0002576 platelet degranulation TAS --
GO:0007596 blood coagulation TAS --
GO:0030855 epithelial cell differentiation IEA --
GO:0034613 cellular protein localization IDA 15647390
genes like me logo Genes that share ontologies with CD63: view

No data available for SIGNOR curated interactions for CD63 Gene

Drugs & Compounds for CD63 Gene

(11) Drugs for CD63 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(12) Additional Compounds for CD63 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD63: view

Transcripts for CD63 Gene

Unigene Clusters for CD63 Gene

CD63 molecule:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD63 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b · 13c · 13d
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - -
SP8: - - -
SP9: - -
SP10: -
SP11:

Relevant External Links for CD63 Gene

GeneLoc Exon Structure for
CD63
ECgene alternative splicing isoforms for
CD63

Expression for CD63 Gene

mRNA expression in normal human tissues for CD63 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CD63 Gene

This gene is overexpressed in Nasal epithelium (17.1), Neutrophil (8.7), and Amniocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD63 Gene



SOURCE GeneReport for Unigene cluster for CD63 Gene Hs.445570

mRNA Expression by UniProt/SwissProt for CD63 Gene

P08962-CD63_HUMAN
Tissue specificity: Detected in platelets (at protein level). Dysplastic nevi, radial growth phase primary melanomas, hematopoietic cells, tissue macrophages.
genes like me logo Genes that share expression patterns with CD63: view

Protein tissue co-expression partners for CD63 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CD63 Gene

Orthologs for CD63 Gene

This gene was present in the common ancestor of animals.

Orthologs for CD63 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD63 36
  • 100 (a)
OneToOne
CD63 35
  • 99.86 (n)
  • 99.58 (a)
cow
(Bos Taurus)
Mammalia CD63 35
  • 84.53 (n)
  • 84.81 (a)
-- 36
  • 64 (a)
OneToMany
CD63 36
  • 85 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CD63 36
  • 90 (a)
OneToOne
CD63 35
  • 87.39 (n)
  • 89.92 (a)
mouse
(Mus musculus)
Mammalia Cd63 16
Cd63 36
  • 79 (a)
OneToOne
Cd63 35
  • 81.93 (n)
  • 79.41 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 22 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 24 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Cd63 35
  • 80.39 (n)
  • 78.57 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 17 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia CD63 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cd63 35
  • 60.76 (n)
  • 53.59 (a)
Str.8003 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9569 35
zebrafish
(Danio rerio)
Actinopterygii cd63 36
  • 45 (a)
OneToOne
-- 35
cd63 35
  • 56.27 (n)
  • 47.86 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009651 35
  • 46.7 (n)
  • 32.33 (a)
fruit fly
(Drosophila melanogaster)
Insecta Tsp29Fa 35
  • 49.93 (n)
  • 33.48 (a)
Tsp29Fa 36
  • 30 (a)
OneToMany
Tsp29Fb 36
  • 23 (a)
OneToMany
Tsp39D 36
  • 28 (a)
OneToMany
Tsp47F 36
  • 29 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tsp-7 35
  • 45.28 (n)
  • 34.51 (a)
tsp-7 36
  • 33 (a)
OneToOne
Species with no ortholog for CD63:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CD63 Gene

ENSEMBL:
Gene Tree for CD63 (if available)
TreeFam:
Gene Tree for CD63 (if available)

Paralogs for CD63 Gene

genes like me logo Genes that share paralogs with CD63: view

Variants for CD63 Gene

Sequence variations from dbSNP and Humsavar for CD63 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs13020 -- 55,726,739(-) AAAAA(C/T)AACCA reference, synonymous-codon
rs772258 -- 55,726,984(-) TGACT(C/T)CTGTC intron-variant
rs2231464 -- 55,726,805(-) CCTCC(A/G)TACTC intron-variant
rs2231466 -- 55,726,691(-) AGTGG(C/G)GTTGC intron-variant
rs2231467 -- 55,726,630(-) TGGTG(A/G)CTCAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CD63 Gene

Variant ID Type Subtype PubMed ID
nsv525231 CNV Loss 19592680
nsv832423 CNV Gain 17160897
nsv469410 CNV Loss 19166990

Variation tolerance for CD63 Gene

Residual Variation Intolerance Score: 42.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD63 Gene

HapMap Linkage Disequilibrium report
CD63

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD63 Gene

Disorders for CD63 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CD63 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hermansky-pudlak syndrome
  • hps
ocular melanoma
  • eye melanoma
mast cell disease
  • mastocytosis
allergic hypersensitivity disease
  • allergic disease
pollen allergy
  • hay fever
- elite association - COSMIC cancer census association via MalaCards
Search CD63 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CD63

Human Genome Epidemiology (HuGE) Navigator
CD63
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD63
genes like me logo Genes that share disorders with CD63: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD63 Gene

Publications for CD63 Gene

  1. The protein CD63 is in platelet dense granules, is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin. (PMID: 7682577) Nishibori M. … Gerrard J.M. (J. Clin. Invest. 1993) 3 4 23 67
  2. Tetraspanins regulate cell-to-cell transmission of HIV-1. (PMID: 19602278) Krementsov D.N. … Thali M. (Retrovirology 2009) 3 23
  3. A CD63 mutant inhibits T-cell tropic human immunodeficiency virus type 1 entry by disrupting CXCR4 trafficking to the plasma membrane. (PMID: 18182005) Yoshida T. … Koyanagi Y. (Traffic 2008) 3 23
  4. The tetraspanin CD63 is involved in granule targeting of neutrophil elastase. (PMID: 18669870) KAollquist L. … Olsson I. (Blood 2008) 3 23
  5. PMN degranulation in relation to CD63 expression and genetic polymorphisms in healthy individuals and COPD patients. (PMID: 17390088) Zhang X.Z. … Sandford A.J. (Int. J. Mol. Med. 2007) 3 23

Products for CD63 Gene

Sources for CD63 Gene

Back to Top

Content