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Aliases for CAV1 Gene

Aliases for CAV1 Gene

  • Caveolin 1, Caveolae Protein, 22kDa 2 3
  • BSCL3 3 6
  • LCCNS 3 6
  • CGL3 3 6
  • PPH3 3 6
  • Caveolin 1, Caveolae Protein, 22kD 2
  • Cell Growth-Inhibiting Protein 32 3
  • Caveolin-1 3
  • MSTP085 3
  • VIP21 3
  • CAV 4

External Ids for CAV1 Gene

Previous HGNC Symbols for CAV1 Gene

  • CAV

Previous GeneCards Identifiers for CAV1 Gene

  • GC07P114642
  • GC07P115705
  • GC07P115719
  • GC07P115758
  • GC07P115952
  • GC07P116164
  • GC07P110530

Summaries for CAV1 Gene

Entrez Gene Summary for CAV1 Gene

  • The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]

GeneCards Summary for CAV1 Gene

CAV1 (Caveolin 1, Caveolae Protein, 22kDa) is a Protein Coding gene. Diseases associated with CAV1 include lipodystrophy, congenital generalized, type 3 and pulmonary hypertension, primary, 3. Among its related pathways are Proteoglycans in cancer and Nanog in Mammalian ESC Pluripotency. GO annotations related to this gene include receptor binding and structural molecule activity. An important paralog of this gene is CAV2.

UniProtKB/Swiss-Prot for CAV1 Gene

  • May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway.

Gene Wiki entry for CAV1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CAV1 Gene

Genomics for CAV1 Gene

Regulatory Elements for CAV1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CAV1 Gene

Start:
116,524,785 bp from pter
End:
116,561,185 bp from pter
Size:
36,401 bases
Orientation:
Plus strand

Genomic View for CAV1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CAV1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CAV1 Gene

Proteins for CAV1 Gene

  • Protein details for CAV1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03135-CAV1_HUMAN
    Recommended name:
    Caveolin-1
    Protein Accession:
    Q03135
    Secondary Accessions:
    • Q9UGP1
    • Q9UNG1
    • Q9UQH6

    Protein attributes for CAV1 Gene

    Size:
    178 amino acids
    Molecular mass:
    20472 Da
    Quaternary structure:
    • Homooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and STX1A. Interacts with rotavirus A NSP4. Interacts (via the N-terminus) with DPP4; the interaction is direct. Interacts with CTNNB1, CDH1 and JUP. Interacts with PACSIN2. Interacts with SLC7A9 (By similarity). Interacts with BMX and BTK.

    Alternative splice isoforms for CAV1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CAV1 Gene

Proteomics data for CAV1 Gene at MOPED

Post-translational modifications for CAV1 Gene

  • Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress.
  • The initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N-acetylated.
  • Ubiquitination at Lys5, Lys26, Lys30, Lys39, Lys47, and Lys57
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CAV1 (Caveolin-1)

Assay Products

No data available for DME Specific Peptides for CAV1 Gene

Domains for CAV1 Gene

Protein Domains for CAV1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CAV1 Gene

Graphical View of Domain Structure for InterPro Entry

Q03135

UniProtKB/Swiss-Prot:

CAV1_HUMAN :
  • Q03135
Family:
  • Belongs to the caveolin family.
genes like me logo Genes that share domains with CAV1: view

No data available for Gene Families for CAV1 Gene

Function for CAV1 Gene

Molecular function for CAV1 Gene

GENATLAS Biochemistry:
caveolin,major component of the inner surface of caveolae,small invaginations of the plasma membrane,expressed in adipocytes,smooth muscle,type I pneumocytes,colocalizing and forming a stable hetero-oligomeric complex with CAV2,with transforming suppressor activity abnormal expressed in T cell leukemia in lung carcinoma and in breast cell carcinoma lines) s,relation to methylation of a CpG island in the 5promoter region
UniProtKB/Swiss-Prot Function:
May act as a scaffolding protein within caveolar membranes. Interacts directly with G-protein alpha subunits and can functionally regulate their activity (By similarity). Involved in the costimulatory signal essential for T-cell receptor (TCR)-mediated T-cell activation. Its binding to DPP4 induces T-cell proliferation and NF-kappa-B activation in a T-cell receptor/CD3-dependent manner. Recruits CTNNB1 to caveolar membranes and may regulate CTNNB1-mediated signaling through the Wnt pathway.

Gene Ontology (GO) - Molecular Function for CAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 16890161
GO:0005113 patched binding NAS 11278759
GO:0005198 structural molecule activity IDA 11865038
GO:0005515 protein binding IPI 11075810
GO:0015485 cholesterol binding TAS 11294831
genes like me logo Genes that share ontologies with CAV1: view
genes like me logo Genes that share phenotypes with CAV1: view

Animal Models for CAV1 Gene

MGI Knock Outs for CAV1:

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for CAV1 Gene

Localization for CAV1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CAV1 Gene

Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola; Peripheral membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts. Potential hairpin-like structure in the membrane. Membrane protein of caveolae.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CAV1 Gene COMPARTMENTS Subcellular localization image for CAV1 gene
Compartment Confidence
endoplasmic reticulum 5
endosome 5
golgi apparatus 5
plasma membrane 5
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 2
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0002080 acrosomal membrane IEA --
GO:0005622 intracellular IDA 15703204
GO:0005768 endosome IDA 20682791
GO:0005783 endoplasmic reticulum IDA 11294831
genes like me logo Genes that share ontologies with CAV1: view

Pathways for CAV1 Gene

genes like me logo Genes that share pathways with CAV1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for CAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0000165 MAPK cascade IEA --
GO:0000188 inactivation of MAPK activity ISS --
GO:0001525 angiogenesis IEA --
GO:0001570 vasculogenesis ISS --
genes like me logo Genes that share ontologies with CAV1: view

Compounds for CAV1 Gene

(104) Novoseek inferred chemical compound relationships for CAV1 Gene

Compound -log(P) Hits PubMed IDs
filipin 78 6
cholesterol 69.4 141
lipid 66.8 139
tyrosine 53.1 77
ganglioside 52.2 15
genes like me logo Genes that share compounds with CAV1: view

Transcripts for CAV1 Gene

Unigene Clusters for CAV1 Gene

Caveolin 1, caveolae protein, 22kDa:
Representative Sequences:

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CAV1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e
SP1: - - - -
SP2: - - - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: -

Relevant External Links for CAV1 Gene

GeneLoc Exon Structure for
CAV1
ECgene alternative splicing isoforms for
CAV1

Expression for CAV1 Gene

mRNA expression in normal human tissues for CAV1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for CAV1 Gene

This gene is overexpressed in Adipocyte (19.4), Urinary Bladder (15.1), and Colon muscle (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CAV1 Gene

SOURCE GeneReport for Unigene cluster for CAV1 Gene Hs.74034

mRNA Expression by UniProt/SwissProt for CAV1 Gene

Q03135-CAV1_HUMAN
Tissue specificity: Expressed in muscle and lung, less so in liver, brain and kidney
genes like me logo Genes that share expressions with CAV1: view

Expression partners for CAV1 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CAV1 Gene

Orthologs for CAV1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CAV1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CAV1 35
  • 93.63 (n)
  • 96.07 (a)
CAV1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CAV1 35
  • 93.97 (n)
  • 96.61 (a)
CAV1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cav1 35
  • 92.32 (n)
  • 94.94 (a)
Cav1 16
Cav1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CAV1 35
  • 99.63 (n)
  • 100 (a)
CAV1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cav1 35
  • 92.88 (n)
  • 94.94 (a)
oppossum
(Monodelphis domestica)
Mammalia CAV1 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CAV1 36
  • 88 (a)
OneToMany
CAV1 36
  • 88 (a)
OneToMany
chicken
(Gallus gallus)
Aves CAV1 35
  • 82.77 (n)
  • 86.52 (a)
CAV1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CAV1 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cav1 35
  • 76.4 (n)
  • 79.78 (a)
Str.8474 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68815 35
zebrafish
(Danio rerio)
Actinopterygii cav1 35
  • 73.79 (n)
  • 79.87 (a)
Dr.25966 35
cav1 36
  • 70 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cav-1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5553 36
  • 28 (a)
OneToMany
Species with no ortholog for CAV1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 CAV1 Gene

ENSEMBL:
Gene Tree for CAV1 (if available)
TreeFam:
Gene Tree for CAV1 (if available)

Paralogs for CAV1 Gene

Paralogs for CAV1 Gene

Selected SIMAP similar genes for CAV1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CAV1: view

Variants for CAV1 Gene

Sequence variations from dbSNP and Humsavar for CAV1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs6867 -- 116,560,469(+) CAACC(A/G)TCTGT utr-variant-3-prime
rs6868 -- 116,560,970(+) AAATC(A/G)CTTAG utr-variant-3-prime
rs8713 -- 116,559,743(+) CAGCA(A/C)ACTCT utr-variant-3-prime
rs9920 -- 116,560,038(+) GAATA(C/T)CCATG utr-variant-3-prime
rs10029 Likely benign 116,526,650(+) CTGGT(C/T)AACCG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for CAV1 Gene

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
nsv831106 CNV Gain 17160897
esv2735060 CNV Deletion 23290073
esv1115366 CNV Deletion 17803354

Relevant External Links for CAV1 Gene

HapMap Linkage Disequilibrium report
CAV1
Human Gene Mutation Database (HGMD)
CAV1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CAV1 Gene

Disorders for CAV1 Gene

(3) OMIM Diseases for CAV1 Gene (601047)

UniProtKB/Swiss-Prot

CAV1_HUMAN
  • Congenital generalized lipodystrophy 3 (CGL3) [MIM:612526]: An autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. {ECO:0000269 PubMed:18211975}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Pulmonary hypertension, primary, 3 (PPH3) [MIM:615343]: A rare disorder characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269 PubMed:22474227}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS) [MIM:606721]: A form of familial partial lipodystrophy associated with congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction. {ECO:0000269 PubMed:18237401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for CAV1 Gene

(89) Novoseek inferred disease relationships for CAV1 Gene

Disease -log(P) Hits PubMed IDs
tumors 49.4 219
cancer 46.2 104
prostate cancer 45.4 119
breast cancer 43.1 108
cholera 39.8 7

Relevant External Links for CAV1

Genetic Association Database (GAD)
CAV1
Human Genome Epidemiology (HuGE) Navigator
CAV1
genes like me logo Genes that share disorders with CAV1: view

No data available for Genatlas for CAV1 Gene

Publications for CAV1 Gene

  1. Analysis of the CAVEOLIN-1 gene at human chromosome 7q31.1 in primary tumours and tumour-derived cell lines. (PMID: 10086342) Hurlstone A.F. … Black D.M. (Oncogene 1999) 3 4 23
  2. Human caveolin-1 and caveolin-2 are closely linked genes colocalized with WI-5336 in a region of 7q31 frequently deleted in tumors. (PMID: 10087206) Fra A.M. … Sitia R. (Genomics 1999) 2 3 23
  3. Functional interaction of caveolin-1 with Bruton's tyrosine kinase and Bmx. (PMID: 11751885) Vargas L. … Mohamed A.J. (J. Biol. Chem. 2002) 3 4 23
  4. Caveolin-1 mutations (P132L and null) and the pathogenesis of breast cancer: caveolin-1 (P132L) behaves in a dominant-negative manner and caveolin-1 (-/-) null mice show mammary epithelial cell hyperplasia. (PMID: 12368209) Lee H. … Lisanti M.P. (Am. J. Pathol. 2002) 3 4 23
  5. Association of a CAV-1 haplotype to familial aggressive prostate cancer. (PMID: 15948133) Haeusler J. … Maier C. (Prostate 2005) 3 23 48

Products for CAV1 Gene

  • Addgene plasmids for CAV1

Sources for CAV1 Gene

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