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Protein

Caveolin-1

Gene

CAV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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).By similarity3 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 complex scaffold Source: BHF-UCL
  • protein kinase binding Source: BHF-UCL
  • Rac GTPase binding Source: AgBase
  • receptor binding Source: BHF-UCL
  • structural molecule activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Host-virus interaction

Enzyme and pathway databases

ReactomeiR-HSA-163560. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.
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

HGNCiHGNC:1527. CAV1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 104103CytoplasmicSequence analysisAdd
BLAST
Intramembranei105 – 12521HelicalSequence analysisAdd
BLAST
Topological domaini126 – 17853CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

  • acrosomal membrane Source: Ensembl
  • apical plasma membrane Source: BHF-UCL
  • basal plasma membrane Source: Ensembl
  • basolateral plasma membrane Source: BHF-UCL
  • caveola Source: UniProtKB
  • cell cortex Source: Ensembl
  • cell surface Source: Ensembl
  • cilium Source: Ensembl
  • cytoplasmic vesicle Source: UniProtKB
  • cytosol Source: Ensembl
  • early endosome membrane Source: Reactome
  • endocytic vesicle membrane Source: Reactome
  • endoplasmic reticulum Source: HGNC
  • endoplasmic reticulum membrane Source: ParkinsonsUK-UCL
  • endosome Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • Golgi membrane Source: HGNC
  • integral component of plasma membrane Source: Ensembl
  • intracellular Source: BHF-UCL
  • lipid particle Source: Reactome
  • membrane Source: AgBase
  • membrane raft Source: UniProtKB
  • mitochondrion Source: Ensembl
  • perinuclear region of cytoplasm Source: UniProtKB
  • peroxisomal membrane Source: Ensembl
  • plasma membrane Source: UniProtKB
  • protein complex Source: MGI
Complete GO annotation...

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, Disease mutation

Organism-specific databases

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

Polymorphism and mutation databases

BioMutaiCAV1.
DMDMi13637934.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources1 Publication
Chaini2 – 178177Caveolin-1PRO_0000004764Add
BLAST
Isoform 2 (identifier: Q03135-2)
Initiator methionineiRemovedCombined sources

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylserineCombined sources1 Publication
Modified residuei2 – 21PhosphoserineBy similarity
Modified residuei5 – 51N6-acetyllysineCombined sources
Modified residuei6 – 61Phosphotyrosine1 Publication
Modified residuei9 – 91PhosphoserineBy similarity
Modified residuei14 – 141Phosphotyrosine; by ABL12 Publications
Modified residuei25 – 251Phosphotyrosine1 Publication
Modified residuei37 – 371PhosphoserineCombined sources1 Publication
Lipidationi133 – 1331S-palmitoyl cysteineBy similarity
Lipidationi143 – 1431S-palmitoyl cysteineBy similarity
Lipidationi156 – 1561S-palmitoyl cysteineBy similarity
Isoform 2 (identifier: Q03135-2)
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei6 – 61PhosphoserineCombined sources

Post-translational modificationi

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, Lipoprotein, Palmitate, Phosphoprotein

Proteomic databases

EPDiQ03135.
MaxQBiQ03135.
PaxDbiQ03135.
PeptideAtlasiQ03135.
PRIDEiQ03135.
TopDownProteomicsiQ03135-1. [Q03135-1]
Q03135-2. [Q03135-2]

PTM databases

iPTMnetiQ03135.
PhosphoSiteiQ03135.
SwissPalmiQ03135.

Expressioni

Tissue specificityi

Expressed in muscle and lung, less so in liver, brain and kidney.

Gene expression databases

BgeeiENSG00000105974.
CleanExiHS_CAV1.
ExpressionAtlasiQ03135. baseline and differential.
GenevisibleiQ03135. HS.

Organism-specific databases

HPAiCAB003791.
HPA049326.

Interactioni

Subunit structurei

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).By similarity6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Axin1O702395EBI-603614,EBI-6857773From a different organism.
BIDP559573EBI-603614,EBI-519672
EGFRP005335EBI-603614,EBI-297353
F2RP251163EBI-603614,EBI-2803960
FASP254453EBI-603614,EBI-494743
Grb7Q031603EBI-603614,EBI-7100053From a different organism.
ID1P411346EBI-603614,EBI-1215527
KCNH2Q128095EBI-603614,EBI-720643
LRP6O755813EBI-603614,EBI-910915
MP034192EBI-603614,EBI-10042882From a different organism.
MCL1Q078203EBI-603614,EBI-1003422
NR3C1P041502EBI-603614,EBI-493507
PTPN1P180315EBI-603614,EBI-968788
RAC1P630002EBI-603614,EBI-413628
SCP2P223073EBI-603614,EBI-1050999
TXNRD1Q168814EBI-603614,EBI-716617

GO - Molecular functioni

  • ATPase binding Source: ParkinsonsUK-UCL
  • enzyme binding Source: UniProtKB
  • identical protein binding Source: BHF-UCL
  • ion channel binding Source: BHF-UCL
  • nitric-oxide synthase binding Source: BHF-UCL
  • patched binding Source: BHF-UCL
  • protein complex scaffold Source: BHF-UCL
  • protein kinase binding Source: BHF-UCL
  • Rac GTPase binding Source: AgBase
  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi107305. 176 interactions.
DIPiDIP-5960N.
IntActiQ03135. 75 interactions.
MINTiMINT-152933.
STRINGi9606.ENSP00000339191.

Structurei

3D structure databases

ProteinModelPortaliQ03135.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the caveolin family.Curated

Phylogenomic databases

eggNOGiENOG410IV7A. Eukaryota.
ENOG4111HJR. LUCA.
GeneTreeiENSGT00390000014924.
HOVERGENiHBG003422.
InParanoidiQ03135.
KOiK06278.
OMAiIYVHTFC.
OrthoDBiEOG091G0M1R.
PhylomeDBiQ03135.
TreeFamiTF315736.

Family and domain databases

InterProiIPR015504. CAV-1.
IPR001612. Caveolin.
IPR018361. Caveolin_CS.
[Graphical view]
PANTHERiPTHR10844. PTHR10844. 1 hit.
PTHR10844:SF18. PTHR10844:SF18. 1 hit.
PfamiPF01146. Caveolin. 1 hit.
[Graphical view]
PROSITEiPS01210. CAVEOLIN. 1 hit.
[Graphical view]

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

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti82 – 821D → H in CAA79476 (PubMed:1360410).Curated
Sequence conflicti144 – 1441I → T in CAA79476 (PubMed:1360410).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti132 – 1321P → 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. 1 Publication
VAR_015103

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3131Missing in isoform 2. CuratedVSP_018692Add
BLAST

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

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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107305. 176 interactions.
DIPiDIP-5960N.
IntActiQ03135. 75 interactions.
MINTiMINT-152933.
STRINGi9606.ENSP00000339191.

Protein family/group databases

TCDBi8.A.26.1.1. the caveolin (caveolin) family.

PTM databases

iPTMnetiQ03135.
PhosphoSiteiQ03135.
SwissPalmiQ03135.

Polymorphism and mutation databases

BioMutaiCAV1.
DMDMi13637934.

Proteomic databases

EPDiQ03135.
MaxQBiQ03135.
PaxDbiQ03135.
PeptideAtlasiQ03135.
PRIDEiQ03135.
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.
GeneCardsiCAV1.
HGNCiHGNC:1527. CAV1.
HPAiCAB003791.
HPA049326.
MalaCardsiCAV1.
MIMi601047. gene.
606721. phenotype.
612526. phenotype.
615343. phenotype.
neXtProtiNX_Q03135.
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.
OMAiIYVHTFC.
OrthoDBiEOG091G0M1R.
PhylomeDBiQ03135.
TreeFamiTF315736.

Enzyme and pathway databases

ReactomeiR-HSA-163560. Hormone-sensitive lipase (HSL)-mediated triacylglycerol hydrolysis.
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.
PROiQ03135.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105974.
CleanExiHS_CAV1.
ExpressionAtlasiQ03135. baseline and differential.
GenevisibleiQ03135. HS.

Family and domain databases

InterProiIPR015504. CAV-1.
IPR001612. Caveolin.
IPR018361. Caveolin_CS.
[Graphical view]
PANTHERiPTHR10844. PTHR10844. 1 hit.
PTHR10844:SF18. PTHR10844:SF18. 1 hit.
PfamiPF01146. Caveolin. 1 hit.
[Graphical view]
PROSITEiPS01210. CAVEOLIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiCAV1_HUMAN
AccessioniPrimary (citable) accession number: Q03135
Secondary accession number(s): Q9UGP1, Q9UNG1, Q9UQH6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1993
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 190 of the entry and version 4 of the sequence. [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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.