CAV1
Caveolin-1
Also known as: CAV, CAV1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q03135
- Gene
- CAV1
- Ensembl
- ENSG00000105974
- Chromosome
- 7
- Canonical length
- 178 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Golgi apparatus,Perinuclear theca,Connecting piece,Principal piece
- Quaternary structure
- Homooligomer
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
178 residues, UniProt reviewed canonical sequence.
>Q03135|CAV1
1 MSGGKYVDSE GHLYTVPIRE QGNIYKPNNK AMADELSEKQ VYDAHTKEID LVNRDPKHLN
61 DDVVKIDFED VIAEPEGTHS FDGIWKASFT TFTVTKYWFY RLLSALFGIP MALIWGIYFA
121 ILSFLHIWAV VPCIKSFLIE IQCISRVYSI YVHTVCDPLF EAVGKIFSNV RINLQKEILocalizationUniProt · AlphaFold · HPA
Whether an antibody against CAV1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.51
- Highest tissue expression
- 583 nTPM
Expression across tissuesHPA
Tissue
- adipose tissue: 583 nTPM
- lung: 558 nTPM
- placenta: 422 nTPM
- blood vessel: 320 nTPM
- colon: 287 nTPM
- breast: 284 nTPM
Single-cell type
- alveolar cells type 1: 1,961 nCPM
- basal keratinocytes: 1,117 nCPM
- smooth muscle cells: 1,110 nCPM
- vascular endothelial cells: 943 nCPM
- transitional alveolar cells: 881 nCPM
- vascular smooth muscle cells: 828 nCPM
Immune cell
- basophil: 15 nTPM
- memory B-cell: 5.1 nTPM
- naive B-cell: 0.9 nTPM
- total PBMC: 0.9 nTPM
- memory CD4 T-cell: 0.1 nTPM
- memory CD8 T-cell: 0.1 nTPM
Brain region
- thalamus: 16 nTPM
- white matter: 15 nTPM
- medulla oblongata: 14 nTPM
- basal ganglia: 14 nTPM
- pons: 13 nTPM
- spinal cord: 12 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CAV1.
Disease | AllUniProt
Conditions CAV1 is implicated in, by any mechanism.
- Lipodystrophy, congenital generalized, 3 (CGL3) MIM:612526
- Pulmonary hypertension, primary, 3 (PPH3) MIM:615343
- Lipodystrophy, familial partial, 7 (FPLD7) MIM:606721
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 194 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
- Pulmonary hypertension, primary, 3
- Congenital generalized lipodystrophy type 3
- Inborn genetic diseases
- CAV1-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.31
- gnomAD pLI
- 0.01
- gnomAD missense Z
- 0.67
- DepMap mean gene effect
- 0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- angiogenesis
- angiotensin-activated signaling pathway
- apoptotic signaling pathway
- basement membrane organization
- calcium ion homeostasis
- calcium ion transport
- canonical Wnt signaling pathway
- caveola assembly
- caveolin-mediated endocytosis
- cell differentiation
- cellular response to hyperoxia
- cellular response to misfolded protein
- cellular response to peptide hormone stimulus
- cellular response to starvation
- cellular response to transforming growth factor beta stimulus
- cholesterol homeostasis
- cholesterol transport
- cytokine-mediated signaling pathway
- endothelial cell proliferation
- establishment of localization in cell
- fibroblast proliferation
- glandular epithelial cell differentiation
- insulin receptor internalization
- intracellular calcium ion homeostasis
- intracellular nitric oxide homeostasis
- intracellular protein localization
- lactation
- lipid storage
- maintenance of protein location in cell
- mammary gland development
- mammary gland involution
- MAPK cascade
- membrane depolarization
- muscle cell cellular homeostasis
- negative regulation of anoikis
- negative regulation of BMP signaling pathway
- negative regulation of canonical Wnt signaling pathway
- negative regulation of cytokine-mediated signaling pathway
- negative regulation of endothelial cell proliferation
- negative regulation of epithelial cell differentiation
- negative regulation of fibroblast proliferation
- negative regulation of MAPK cascade
- negative regulation of necroptotic process
- negative regulation of nitric oxide biosynthetic process
- negative regulation of pinocytosis
- negative regulation of potassium ion transmembrane transport
- negative regulation of protein ubiquitination
- negative regulation of receptor signaling pathway via JAK-STAT
- negative regulation of transcription by RNA polymerase II
- nitric oxide biosynthetic process
- nitric oxide metabolic process
- positive regulation of calcium ion transport into cytosol
- positive regulation of canonical NF-kappaB signal transduction
- positive regulation of cell migration
- positive regulation of cholesterol efflux
- positive regulation of cold-induced thermogenesis
- positive regulation of ERAD pathway
- positive regulation of extrinsic apoptotic signaling pathway
- positive regulation of gap junction assembly
- positive regulation of gene expression
- positive regulation of intrinsic apoptotic signaling pathway
- positive regulation of protein ubiquitination
- positive regulation of vasoconstriction
- post-transcriptional regulation of gene expression
- protein localization to basolateral plasma membrane
- protein localization to plasma membrane raft
- protein transport
- receptor internalization
- receptor-mediated endocytosis of virus by host cell
- regulation of blood coagulation
- regulation of cardiac muscle cell action potential involved in regulation of contraction
- regulation of cell communication by electrical coupling involved in cardiac conduction
- regulation of cytosolic calcium ion concentration
- regulation of entry of bacterium into host cell
- regulation of fatty acid metabolic process
- regulation of heart rate by cardiac conduction
- regulation of membrane repolarization during action potential
- regulation of ruffle assembly
- regulation of smooth muscle contraction
- regulation of the force of heart contraction by chemical signal
- regulation of ventricular cardiac muscle cell action potential
- response to bacterium
- response to calcium ion
- response to estrogen
- response to hypoxia
- response to ischemia
- response to progesterone
- skeletal muscle tissue development
- T cell costimulation
- triglyceride metabolic process
- vasculogenesis
- vasoconstriction
- vesicle organization
Molecular functions
- ATPase binding
- cholesterol binding
- enzyme binding
- identical protein binding
- molecular adaptor activity
- nitric-oxide synthase binding
- nitric-oxide synthase inhibitor activity
- oxysterol binding
- patched binding
- peptidase activator activity
- protein heterodimerization activity
- protein kinase binding
- protein sequestering activity
- protein tyrosine kinase inhibitor activity
- protein-containing complex binding
- protein-macromolecule adaptor activity
- signaling receptor binding
- small GTPase binding
- transmembrane transporter binding
- inward rectifier potassium channel inhibitor activity
Cellular components
- acrosomal membrane
- apical plasma membrane
- basolateral plasma membrane
- caveola
- caveolar macromolecular signaling complex
- cell cortex
- cilium
- cytoplasmic vesicle
- early endosome membrane
- endocytic vesicle membrane
- endoplasmic reticulum
- endoplasmic reticulum membrane
- endosome
- focal adhesion
- Golgi apparatus
- Golgi membrane
- lipid droplet
- membrane
- membrane raft
- perinuclear region of cytoplasm
- plasma membrane
- protein-containing complex
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CAV1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CAV1 as an antibody target. Whether an autoantibody or antibody against CAV1 could matter depends on whether native CAV1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CAV1 is annotated at the cell surface, where native CAV1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label CAV1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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