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Protein

Caveolin-1

Gene

CAV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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). Mediates the recruitment of CAVIN proteins (CAVIN1/2/3/4) to the caveolae (PubMed:19262564).By similarity4 Publications

GO - Molecular functioni

  • ATPase binding Source: ParkinsonsUK-UCL
  • cholesterol binding Source: HGNC
  • enzyme binding Source: UniProtKB
  • identical protein binding Source: BHF-UCL
  • inward rectifier potassium channel inhibitor activity Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • nitric-oxide synthase binding Source: BHF-UCL
  • patched binding Source: BHF-UCL
  • peptidase activator activity Source: BHF-UCL
  • protein binding, bridging Source: Ensembl
  • protein-containing complex scaffold activity Source: GO_Central
  • protein heterodimerization activity Source: Ensembl
  • protein kinase binding Source: BHF-UCL
  • Rac GTPase binding Source: AgBase
  • signaling receptor binding Source: BHF-UCL
  • structural molecule activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processHost-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-163560 Triglyceride catabolism
R-HSA-203615 eNOS activation
R-HSA-203641 NOSTRIN mediated eNOS trafficking
R-HSA-210991 Basigin interactions
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5218920 VEGFR2 mediated vascular permeability
SignaLinkiQ03135
SIGNORiQ03135

Protein family/group databases

TCDBi8.A.26.1.1 the caveolin (caveolin) family

Names & Taxonomyi

Protein namesi
Recommended name:
Caveolin-1
Gene namesi
Name:CAV1
Synonyms:CAV
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000105974.11
HGNCiHGNC:1527 CAV1
MIMi601047 gene
neXtProtiNX_Q03135

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini2 – 104CytoplasmicSequence analysisAdd BLAST103
Intramembranei105 – 125HelicalSequence analysisAdd BLAST21
Topological domaini126 – 178CytoplasmicSequence analysisAdd BLAST53

Keywords - Cellular componenti

Cell membrane, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Congenital generalized lipodystrophy 3 (CGL3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes.
See also OMIM:612526
Pulmonary hypertension, primary, 3 (PPH3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615343
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (LCCNS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of familial partial lipodystrophy associated with congenital cataracts and neurodegeneration leading to cerebellar and spinal cord dysfunction.
See also OMIM:606721

Keywords - Diseasei

Congenital generalized lipodystrophy, Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi857
MalaCardsiCAV1
MIMi606721 phenotype
612526 phenotype
615343 phenotype
OpenTargetsiENSG00000105974
Orphaneti528 Berardinelli-Seip congenital lipodystrophy
220393 Diffuse cutaneous systemic sclerosis
275777 Heritable pulmonary arterial hypertension
220402 Limited cutaneous systemic sclerosis
PharmGKBiPA26107

Chemistry databases

ChEMBLiCHEMBL3808270

Polymorphism and mutation databases

BioMutaiCAV1
DMDMi13637934

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00000047642 – 178Caveolin-1Add BLAST177
Isoform 2 (identifier: Q03135-2)
Initiator methionineiRemoved

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineCombined sources1 Publication1
Modified residuei2PhosphoserineBy similarity1
Modified residuei5N6-acetyllysine; alternateCombined sources1
Cross-linki5Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin); alternate1 Publication
Modified residuei6Phosphotyrosine1 Publication1
Modified residuei9PhosphoserineBy similarity1
Modified residuei14Phosphotyrosine; by ABL12 Publications1
Modified residuei25Phosphotyrosine1 Publication1
Cross-linki26Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki30Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei37PhosphoserineCombined sources1 Publication1
Cross-linki39Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki47Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki57Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Lipidationi133S-palmitoyl cysteineBy similarity1
Lipidationi143S-palmitoyl cysteineBy similarity1
Lipidationi156S-palmitoyl cysteineBy similarity1
Isoform 2 (identifier: Q03135-2)
Modified residuei2N-acetylalanine1
Modified residuei6Phosphoserine1

Post-translational modificationi

Ubiquitinated. Undergo monoubiquitination and multi- and/or polyubiquitination (PubMed:21822278). Monoubiquitination of N-terminal lysines promotes integration in a ternary complex with UBXN6 and VCP which promotes oligomeric CAV1 targeting to lysosomes for degradation (PubMed:23335559).2 Publications
The initiator methionine for isoform 2 is removed during or just after translation. The new N-terminal amino acid is then N-acetylated.1 Publication
Phosphorylated at Tyr-14 by ABL1 in response to oxidative stress.3 Publications

Keywords - PTMi

Acetylation, Isopeptide bond, Lipoprotein, Palmitate, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ03135
PaxDbiQ03135
PeptideAtlasiQ03135
PRIDEiQ03135
ProteomicsDBi58192
58193 [Q03135-2]
TopDownProteomicsiQ03135-1 [Q03135-1]
Q03135-2 [Q03135-2]

PTM databases

iPTMnetiQ03135
PhosphoSitePlusiQ03135
SwissPalmiQ03135

Expressioni

Tissue specificityi

Skeletal muscle, liver, stomach, lung, kidney and heart (at protein level). Expressed in the brain.1 Publication

Gene expression databases

BgeeiENSG00000105974 Expressed in 242 organ(s), highest expression level in visceral pleura
CleanExiHS_CAV1
ExpressionAtlasiQ03135 baseline and differential
GenevisibleiQ03135 HS

Organism-specific databases

HPAiCAB003791
HPA049326

Interactioni

Subunit structurei

Homooligomer (PubMed:25588833). Interacts with GLIPR2 (PubMed:11865038). Interacts with NOSTRIN (PubMed:16807357). Interacts with SNAP25 and STX1A (By similarity). Interacts (via the N-terminus) with DPP4; the interaction is direct (PubMed:17287217). Interacts with CTNNB1, CDH1 and JUP. Interacts with PACSIN2. Interacts with SLC7A9 (By similarity). Interacts with BMX and BTK (PubMed:11751885). Interacts with TGFBR1 (PubMed:25893292). Interacts with CAVIN3 (via leucine-zipper domain) in a cholesterol-sensitive manner (PubMed:25588833, PubMed:19262564). Interacts with CAVIN1 (PubMed:25588833). Interacts with EHD2 in a cholesterol-dependent manner (PubMed:25588833). Forms a ternary complex with UBXN6 and VCP; mediates CAV1 targeting to lysosomes for degradation (PubMed:21822278, PubMed:23335559).By similarity9 Publications
(Microbial infection) Interacts with rotavirus A NSP4.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107305, 195 interactors
CORUMiQ03135
DIPiDIP-5960N
IntActiQ03135, 92 interactors
MINTiQ03135
STRINGi9606.ENSP00000339191

Chemistry databases

BindingDBiQ03135

Structurei

3D structure databases

ProteinModelPortaliQ03135
SMRiQ03135
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 94Required for homooligomerization1 PublicationAdd BLAST93
Regioni82 – 94Interaction with CAVIN31 PublicationAdd BLAST13

Sequence similaritiesi

Belongs to the caveolin family.Curated

Phylogenomic databases

eggNOGiENOG410IV7A Eukaryota
ENOG4111HJR LUCA
GeneTreeiENSGT00390000014924
HOVERGENiHBG003422
InParanoidiQ03135
KOiK06278
OMAiSICIHTF
OrthoDBiEOG091G0M1R
PhylomeDBiQ03135
TreeFamiTF315736

Family and domain databases

InterProiView protein in InterPro
IPR015504 CAV-1
IPR001612 Caveolin
IPR018361 Caveolin_CS
PANTHERiPTHR10844 PTHR10844, 1 hit
PTHR10844:SF18 PTHR10844:SF18, 1 hit
PfamiView protein in Pfam
PF01146 Caveolin, 1 hit
PROSITEiView protein in PROSITE
PS01210 CAVEOLIN, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative initiation. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q03135-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSGGKYVDSE GHLYTVPIRE QGNIYKPNNK AMADELSEKQ VYDAHTKEID
60 70 80 90 100
LVNRDPKHLN DDVVKIDFED VIAEPEGTHS FDGIWKASFT TFTVTKYWFY
110 120 130 140 150
RLLSALFGIP MALIWGIYFA ILSFLHIWAV VPCIKSFLIE IQCISRVYSI
160 170
YVHTVCDPLF EAVGKIFSNV RINLQKEI
Length:178
Mass (Da):20,472
Last modified:January 23, 2007 - v4
Checksum:i2424DE9B5E6521D5
GO
Isoform 2 (identifier: Q03135-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-31: Missing.

Show »
Length:147
Mass (Da):17,023
Checksum:i1A7D806312F72A47
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JKI3C9JKI3_HUMAN
Caveolin
CAV1
138Annotation score:
E9PCT5E9PCT5_HUMAN
Caveolin
CAV1
167Annotation score:
F8WDM7F8WDM7_HUMAN
Caveolin-1
CAV1
86Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti82D → H in CAA79476 (PubMed:1360410).Curated1
Sequence conflicti144I → T in CAA79476 (PubMed:1360410).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015103132P → L in breast cancer; seems to form misfolded oligomers that are retained within the Golgi complex and are not targeted to caveolae or the plasma membrane; loss of interaction with VCP. 2 Publications1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0186921 – 31Missing in isoform 2. CuratedAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z18951 mRNA Translation: CAA79476.1
AF095593, AF095591, AF095592 Genomic DNA Translation: AAD23745.1
AJ133269 Genomic DNA Translation: CAB63654.1
AF125348 Genomic DNA Translation: AAD34722.1
BT007143 mRNA Translation: AAP35807.1
BC009685 mRNA Translation: AAH09685.1
BC082246 mRNA Translation: AAH82246.1
CCDSiCCDS55156.1 [Q03135-2]
CCDS5767.1 [Q03135-1]
PIRiS26884
RefSeqiNP_001744.2, NM_001753.4 [Q03135-1]
UniGeneiHs.74034

Genome annotation databases

EnsembliENST00000341049; ENSP00000339191; ENSG00000105974 [Q03135-1]
ENST00000393467; ENSP00000377110; ENSG00000105974 [Q03135-2]
ENST00000393468; ENSP00000377111; ENSG00000105974 [Q03135-2]
ENST00000405348; ENSP00000384348; ENSG00000105974 [Q03135-2]
ENST00000614113; ENSP00000479447; ENSG00000105974 [Q03135-2]
GeneIDi857
KEGGihsa:857
UCSCiuc003vig.3 human [Q03135-1]

Keywords - Coding sequence diversityi

Alternative initiation

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Wikipedia

Caveolin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z18951 mRNA Translation: CAA79476.1
AF095593, AF095591, AF095592 Genomic DNA Translation: AAD23745.1
AJ133269 Genomic DNA Translation: CAB63654.1
AF125348 Genomic DNA Translation: AAD34722.1
BT007143 mRNA Translation: AAP35807.1
BC009685 mRNA Translation: AAH09685.1
BC082246 mRNA Translation: AAH82246.1
CCDSiCCDS55156.1 [Q03135-2]
CCDS5767.1 [Q03135-1]
PIRiS26884
RefSeqiNP_001744.2, NM_001753.4 [Q03135-1]
UniGeneiHs.74034

3D structure databases

ProteinModelPortaliQ03135
SMRiQ03135
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107305, 195 interactors
CORUMiQ03135
DIPiDIP-5960N
IntActiQ03135, 92 interactors
MINTiQ03135
STRINGi9606.ENSP00000339191

Chemistry databases

BindingDBiQ03135
ChEMBLiCHEMBL3808270

Protein family/group databases

TCDBi8.A.26.1.1 the caveolin (caveolin) family

PTM databases

iPTMnetiQ03135
PhosphoSitePlusiQ03135
SwissPalmiQ03135

Polymorphism and mutation databases

BioMutaiCAV1
DMDMi13637934

Proteomic databases

EPDiQ03135
PaxDbiQ03135
PeptideAtlasiQ03135
PRIDEiQ03135
ProteomicsDBi58192
58193 [Q03135-2]
TopDownProteomicsiQ03135-1 [Q03135-1]
Q03135-2 [Q03135-2]

Protocols and materials databases

DNASUi857
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000341049; ENSP00000339191; ENSG00000105974 [Q03135-1]
ENST00000393467; ENSP00000377110; ENSG00000105974 [Q03135-2]
ENST00000393468; ENSP00000377111; ENSG00000105974 [Q03135-2]
ENST00000405348; ENSP00000384348; ENSG00000105974 [Q03135-2]
ENST00000614113; ENSP00000479447; ENSG00000105974 [Q03135-2]
GeneIDi857
KEGGihsa:857
UCSCiuc003vig.3 human [Q03135-1]

Organism-specific databases

CTDi857
DisGeNETi857
EuPathDBiHostDB:ENSG00000105974.11
GeneCardsiCAV1
HGNCiHGNC:1527 CAV1
HPAiCAB003791
HPA049326
MalaCardsiCAV1
MIMi601047 gene
606721 phenotype
612526 phenotype
615343 phenotype
neXtProtiNX_Q03135
OpenTargetsiENSG00000105974
Orphaneti528 Berardinelli-Seip congenital lipodystrophy
220393 Diffuse cutaneous systemic sclerosis
275777 Heritable pulmonary arterial hypertension
220402 Limited cutaneous systemic sclerosis
PharmGKBiPA26107
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IV7A Eukaryota
ENOG4111HJR LUCA
GeneTreeiENSGT00390000014924
HOVERGENiHBG003422
InParanoidiQ03135
KOiK06278
OMAiSICIHTF
OrthoDBiEOG091G0M1R
PhylomeDBiQ03135
TreeFamiTF315736

Enzyme and pathway databases

ReactomeiR-HSA-163560 Triglyceride catabolism
R-HSA-203615 eNOS activation
R-HSA-203641 NOSTRIN mediated eNOS trafficking
R-HSA-210991 Basigin interactions
R-HSA-4641262 Disassembly of the destruction complex and recruitment of AXIN to the membrane
R-HSA-5218920 VEGFR2 mediated vascular permeability
SignaLinkiQ03135
SIGNORiQ03135

Miscellaneous databases

ChiTaRSiCAV1 human
GeneWikiiCaveolin_1
GenomeRNAii857
PROiPR:Q03135
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105974 Expressed in 242 organ(s), highest expression level in visceral pleura
CleanExiHS_CAV1
ExpressionAtlasiQ03135 baseline and differential
GenevisibleiQ03135 HS

Family and domain databases

InterProiView protein in InterPro
IPR015504 CAV-1
IPR001612 Caveolin
IPR018361 Caveolin_CS
PANTHERiPTHR10844 PTHR10844, 1 hit
PTHR10844:SF18 PTHR10844:SF18, 1 hit
PfamiView protein in Pfam
PF01146 Caveolin, 1 hit
PROSITEiView protein in PROSITE
PS01210 CAVEOLIN, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCAV1_HUMAN
AccessioniPrimary (citable) accession number: Q03135
Secondary accession number(s): Q9UGP1, Q9UNG1, Q9UQH6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 211 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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