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Aliases for CAV1 Gene

Aliases for CAV1 Gene

  • Caveolin 1 2 3 5
  • Caveolin 1, Caveolae Protein, 22kDa 2 3
  • Caveolin 1, Caveolae Protein, 22kD 2
  • Cell Growth-Inhibiting Protein 32 3
  • MSTP085 3
  • BSCL3 3
  • LCCNS 3
  • VIP21 3
  • CGL3 3
  • PPH3 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) 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 Bacterial invasion of epithelial cells and Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF). GO annotations related to this gene include identical protein binding and receptor binding. 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. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292).

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

Enhancers for CAV1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CAV1 on UCSC Golden Path with GeneCards custom track

Promoters for CAV1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CAV1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CAV1 Gene

Chromosome:
7
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

Genes around CAV1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CAV1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (By similarity). Interacts with SLC7A9 (By similarity). Interacts with BMX and BTK. Interacts with TGFBR1 (PubMed:25893292).

    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 Lys 26, Lys 30, Lys 47, and Lys 57
  • Modification sites at PhosphoSitePlus

Antibody Products

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

No data available for DME Specific Peptides for CAV1 Gene

Domains & Families 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 :
  • Belongs to the caveolin family.
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. Negatively regulates TGFB1-mediated activation of SMAD2/3 by mediating the internalization of TGFBR1 from membrane rafts leading to its subsequent degradation (PubMed:25893292).

Gene Ontology (GO) - Molecular Function for CAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 receptor binding IPI 16890161
GO:0016504 peptidase activator activity ISS --
GO:0019899 enzyme binding IPI 20122998
GO:0030674 protein binding, bridging IEA --
GO:0070320 inward rectifier potassium channel inhibitor activity IDA 18923542
genes like me logo Genes that share ontologies with CAV1: view
genes like me logo Genes that share phenotypes with CAV1: view

Human Phenotype Ontology for CAV1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CAV1 Gene

MGI Knock Outs for CAV1:

Animal Model Products

miRNA for CAV1 Gene

miRTarBase miRNAs that target CAV1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 4
mitochondrion 3
peroxisome 3
cytoskeleton 2
extracellular 2
lysosome 2
nucleus 2
vacuole 2

Gene Ontology (GO) - Cellular Components for CAV1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005768 endosome IDA 20682791
GO:0005829 cytosol IEA --
GO:0005938 cell cortex IEA --
GO:0031901 early endosome membrane TAS --
genes like me logo Genes that share ontologies with CAV1: view

Pathways & Interactions for CAV1 Gene

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

SIGNOR curated interactions for CAV1 Gene

Activates:
Is activated by:

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:0001570 vasculogenesis ISS --
GO:0001666 response to hypoxia ISS --
genes like me logo Genes that share ontologies with CAV1: view

Drugs & Compounds for CAV1 Gene

(49) Drugs for CAV1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(55) Additional Compounds for CAV1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 from HIPED for CAV1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CAV1: view

Protein tissue co-expression partners for CAV1 Gene

- Elite partner

Primer 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

(2) 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
VAR_015103 Breast cancer
rs917664 -- 116,527,390(+) TCTTT(A/T)GTAGC intron-variant
rs926198 -- 116,527,154(+) TGTTC(C/T)CCCAA intron-variant
rs926199 -- 116,530,093(+) ATCAC(A/G)AAGAT intron-variant
rs926200 -- 116,530,141(+) GTTTT(A/T)AAAAA intron-variant

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

Variation tolerance for CAV1 Gene

Residual Variation Intolerance Score: 71.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.42; 9.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CAV1 Gene

Human Gene Mutation Database (HGMD)
CAV1

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

Disorders for CAV1 Gene

MalaCards: The human disease database

(26) MalaCards diseases for CAV1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lipodystrophy, congenital generalized, type 3
  • congenital generalized lipodystrophy type 3
pulmonary hypertension, primary, 3
  • primary pulmonary hypertension 3
partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
  • lipodystrophy, partial, with congenital cataracts and neurodegeneration
heritable pulmonary arterial hypertension
  • familial primary pulmonary hypertension
diffuse cutaneous systemic sclerosis
  • diffuse scleroderma
- elite association - COSMIC cancer census association via MalaCards
Search CAV1 in MalaCards View complete list of genes associated with diseases

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.
  • 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.
  • 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.

Relevant External Links for CAV1

Genetic Association Database (GAD)
CAV1
Human Genome Epidemiology (HuGE) Navigator
CAV1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 67
  2. Growth of hormone-dependent MCF-7 breast cancer cells is promoted by constitutive caveolin-1 whose expression is lost in an EGF-R-mediated manner during development of tamoxifen resistance. (PMID: 19288272) Thomas N.B. … Gumbleton M. (Breast Cancer Res. Treat. 2010) 3 23
  3. Novel extreme homozygote haplotypes at the human caveolin 1 gene upstream purine complex in sporadic Alzheimer's disease. (PMID: 19475601) Zarif Yeganeh M. … Ohadi M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 23
  4. Caveolin-1 promotes resistance to chemotherapy-induced apoptosis in Ewing's sarcoma cells by modulating PKCalpha phosphorylation. (PMID: 19609943) Tirado O.M. … Notario V. (Int. J. Cancer 2010) 3 23
  5. Lipid droplet analysis in caveolin-deficient adipocytes: alterations in surface phospholipid composition and maturation defects. (PMID: 19965594) Blouin C.M. … Dugail I. (J. Lipid Res. 2010) 3 23

Products for CAV1 Gene

Sources for CAV1 Gene

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