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CAV1 caveolin 1, caveolae protein, 22kDa [ Homo sapiens (human) ]

Gene ID: 857, updated on 19-Jul-2014
Official Symbol
CAV1provided by HGNC
Official Full Name
caveolin 1, caveolae protein, 22kDaprovided by HGNC
Primary source
HGNC:1527
See related
Ensembl:ENSG00000105974; HPRD:03028; MIM:601047; Vega:OTTHUMG00000023413
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
CGL3; PPH3; BSCL3; LCCNS; VIP21; MSTP085
Summary
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]
See CAV1 in Epigenomics, MapViewer
Location:
7q31.1
Exon count :
4
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (116524785..116561185)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (116164839..116201239)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928117 Neighboring gene caveolin 2 Neighboring gene uncharacterized LOC100996266 Neighboring gene MET proto-oncogene, receptor tyrosine kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Lipodystrophy with congenital cataracts and neurodegeneration
MedGen: C1847582 OMIM: 606721 GeneReviews: Not available
Compare labs
Lipodystrophy, congenital generalized, type 3
MedGen: C2675861 OMIM: 612526 GeneReviews: Not available
Compare labs
Primary pulmonary hypertension 3
MedGen: CN178222 OMIM: 615343 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
NHGRI GWA Catalog
Genome-wide association study of PR interval.
NHGRI GWA Catalog
Meta-analysis identifies six new susceptibility loci for atrial fibrillation.
NHGRI GWA Catalog
Novel loci associated with PR interval in a genome-wide association study of 10 African American cohorts.
NHGRI GWA Catalog
Several common variants modulate heart rate, PR interval and QRS duration.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 forms a stable complex with caveolin-1 through its amino-acid residues 623-631 in HIV-infected cells; antibodies to the caveolin-1 binding domain in gp41 inhibit virus infectivity PubMed
env Amino acid residues 61-101 of caveolin 1 are involved in the binding of caveolin 1 to the N36(L8)C34 domain of gp41 PubMed
Nef nef Cav-1 physically interacts with HIV-1 Nef and restores Nef mediated impairment of apoA-I mediated cholesterol efflux in astrocyte derived glioblastoma cells and macrophages PubMed
Tat tat Treatment with Tat activates the Ras pathway in human brain micro vascular endothelial cells (HBMECs), an effect that is markedly attenuated by caveolin-1 silencing PubMed
tat Activation of p38 MAPK in HIV-infected cells mediated by Tat leads to the phosphorylation of p53 which subsequently upregulates CAV-1 expression PubMed
Vpr vpr HIV-1 Vpr C-terminus (residues 52-96) entry into cells is mediated through clathrin- and caveolae/raft-dependent endocytosis PubMed

Go to the HIV-1, Human Protein Interaction Database

  • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
    ALK1 signaling events, organism-specific biosystem
    ALK1 signaling events
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  • Bacterial invasion of epithelial cells, organism-specific biosystem (from KEGG)
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  • Bacterial invasion of epithelial cells, conserved biosystem (from KEGG)
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  • Canonical Wnt signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Canonical Wnt signaling pathway, organism-specific biosystem
    Canonical Wnt signaling pathway
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  • Direct p53 effectors, organism-specific biosystem (from Pathway Interaction Database)
    Direct p53 effectors, organism-specific biosystem
    Direct p53 effectors
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  • Endocytosis, conserved biosystem (from KEGG)
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  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
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    Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis, organism-specific biosystemTriacylglycerol is a major energy store in the body and its hydrolysis to yield fatty acids and glycerol is a tightly regulated part of energy metabolism. A central part in this regulation is played ...
  • Insulin Pathway, organism-specific biosystem (from Pathway Interaction Database)
    Insulin Pathway, organism-specific biosystem
    Insulin Pathway
  • Integrin-mediated cell adhesion, organism-specific biosystem (from WikiPathways)
    Integrin-mediated cell adhesion, organism-specific biosystemIntegrins are receptors that mediate attachment between a cell and the tissues surrounding it, which may be other cells or the extracellular matrix (ECM). They also play a role in cell signaling and ...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
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  • Metabolism of nitric oxide, organism-specific biosystem (from REACTOME)
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  • PDGFR-alpha signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    PDGFR-alpha signaling pathway, organism-specific biosystem
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  • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
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  • Signaling events mediated by VEGFR1 and VEGFR2, organism-specific biosystem (from Pathway Interaction Database)
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  • TGF-beta Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
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    TGF-beta receptor signaling, organism-specific biosystem
    TGF-beta receptor signaling
  • TNF receptor signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    TNF receptor signaling pathway, organism-specific biosystem
    TNF receptor signaling pathway
  • TNF-alpha/NF-kB Signaling Pathway, organism-specific biosystem (from WikiPathways)
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  • VEGFR1 specific signals, organism-specific biosystem (from Pathway Interaction Database)
    VEGFR1 specific signals, organism-specific biosystem
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  • Viral myocarditis, organism-specific biosystem (from KEGG)
    Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
  • eNOS activation, organism-specific biosystem (from REACTOME)
    eNOS activation, organism-specific biosystemeNOS activity is regulated by numerous post-translational modifications including phosphorylation and acylation, which also modulate its interactions with other proteins and its subcellular localizat...
  • eNOS activation and regulation, organism-specific biosystem (from REACTOME)
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Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding TAS
Traceable Author Statement
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
 
nitric-oxide synthase binding IPI
Inferred from Physical Interaction
more info
PubMed 
patched binding NAS
Non-traceable Author Statement
more info
PubMed 
peptidase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex scaffold TAS
Traceable Author Statement
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade IEA
Inferred from Electronic Annotation
more info
 
T cell costimulation IDA
Inferred from Direct Assay
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transport ISS
Inferred from Sequence or Structural Similarity
more info
 
caveola assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
caveolin-mediated endocytosis IDA
Inferred from Direct Assay
more info
PubMed 
cellular calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to hyperoxia IMP
Inferred from Mutant Phenotype
more info
 
cellular response to starvation IEP
Inferred from Expression Pattern
more info
PubMed 
cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol homeostasis TAS
Traceable Author Statement
more info
PubMed 
cholesterol transport TAS
Traceable Author Statement
more info
PubMed 
cytosolic calcium ion homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
inactivation of MAPK activity ISS
Inferred from Sequence or Structural Similarity
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
leukocyte migration TAS
Traceable Author Statement
more info
 
lipid storage ISS
Inferred from Sequence or Structural Similarity
more info
 
maintenance of protein location in cell ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary gland development ISS
Inferred from Sequence or Structural Similarity
more info
 
mammary gland involution ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane depolarization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of JAK-STAT cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of anoikis IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cytokine-mediated signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endothelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of nitric-oxide synthase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of pinocytosis IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of protein ubiquitination IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of transcription from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of tyrosine phosphorylation of Stat5 protein IEA
Inferred from Electronic Annotation
more info
 
nitric oxide homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
nitric oxide metabolic process TAS
Traceable Author Statement
more info
 
positive regulation of calcium ion transport into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of extrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of intrinsic apoptotic signaling pathway IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of metalloenzyme activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of peptidase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of vasoconstriction ISS
Inferred from Sequence or Structural Similarity
more info
 
protein homooligomerization ISS
Inferred from Sequence or Structural Similarity
more info
 
protein localization ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor internalization involved in canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of blood coagulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of fatty acid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of nitric-oxide synthase activity TAS
Traceable Author Statement
more info
 
regulation of peptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of smooth muscle contraction ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of the force of heart contraction by chemical signal IEA
Inferred from Electronic Annotation
more info
 
response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
response to estrogen IDA
Inferred from Direct Assay
more info
PubMed 
response to hypoxia ISS
Inferred from Sequence or Structural Similarity
more info
 
response to ischemia IEA
Inferred from Electronic Annotation
more info
 
response to progesterone IDA
Inferred from Direct Assay
more info
PubMed 
skeletal muscle tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
triglyceride metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
vesicle organization IDA
Inferred from Direct Assay
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi membrane IDA
Inferred from Direct Assay
more info
PubMed 
Golgi membrane TAS
Traceable Author Statement
more info
 
acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
caveola NAS
Non-traceable Author Statement
more info
PubMed 
cell cortex IEA
Inferred from Electronic Annotation
more info
 
cilium IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
endocytic vesicle membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endosome IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
lipid particle TAS
Traceable Author Statement
more info
 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
perinuclear region of cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
protein complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
caveolin-1
Names
caveolin-1
cell growth-inhibiting protein 32

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_012051.1 

    Range
    5001..41401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001172895.1NP_001166366.1  caveolin-1 isoform beta

    See proteins identical to NP_001166366.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (beta) is shorter than isoform alpha. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AB209926, AC006159, AK290871, BC006432, BG170208, DB266251
    Consensus CDS
    CCDS55156.1
    UniProtKB/TrEMBL
    Q2TNI1
    UniProtKB/TrEMBL
    Q59E85
    Conserved Domains (1) summary
    pfam01146
    Location:3146
    Blast Score: 596
    Caveolin; Caveolin
  2. NM_001172896.1NP_001166367.1  caveolin-1 isoform beta

    See proteins identical to NP_001166367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (beta) is shorter than isoform alpha. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AB209926, AC006159, AF172085, AK290871, BG170208, DA943080
    Consensus CDS
    CCDS55156.1
    UniProtKB/TrEMBL
    Q2TNI1
    UniProtKB/TrEMBL
    Q59E85
    UniProtKB/TrEMBL
    Q7Z4F3
    Related
    ENSP00000377110, OTTHUMP00000195988, ENST00000393467, OTTHUMT00000141424
    Conserved Domains (1) summary
    pfam01146
    Location:3146
    Blast Score: 596
    Caveolin; Caveolin
  3. NM_001172897.1NP_001166368.1  caveolin-1 isoform beta

    See proteins identical to NP_001166368.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (beta) is shorter than isoform alpha. Variants 2, 3 and 4 encode the same isoform.
    Source sequence(s)
    AB209926, AC006159, AK290871, BG170208, DA477166, EF649773
    Consensus CDS
    CCDS55156.1
    UniProtKB/TrEMBL
    A9XTE5
    UniProtKB/TrEMBL
    Q2TNI1
    UniProtKB/TrEMBL
    Q59E85
    Conserved Domains (1) summary
    pfam01146
    Location:3146
    Blast Score: 596
    Caveolin; Caveolin
  4. NM_001753.4NP_001744.2  caveolin-1 isoform alpha

    See proteins identical to NP_001744.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (alpha).
    Source sequence(s)
    AB209926, AC006159, AI878826, AK290871, BG170208
    Consensus CDS
    CCDS5767.1
    UniProtKB/Swiss-Prot
    Q03135
    UniProtKB/TrEMBL
    Q2TNI1
    UniProtKB/TrEMBL
    Q59E85
    Related
    ENSP00000339191, OTTHUMP00000025031, ENST00000341049, OTTHUMT00000059734
    Conserved Domains (1) summary
    pfam01146
    Location:34177
    Blast Score: 618
    Caveolin; Caveolin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    116524785..116561185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    110530835..110566784
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    116098482..116134827
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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