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CAV1 (caveolin 1, caveolae protein, 22kDa)

Written2008-12Cristiana Tanase
Victor Babes National Institute of Pathology, 99-101, Splaiul Independentei, Sector 5, Bucharest, Romania

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCAV
caveolin 1, caveolae protein, 22kD
caveolin 1, caveolae protein, 22kDa
HGNC (Hugo) CAV1
LocusID (NCBI) 857
Atlas_Id 932
Location 7q31.2  [Link to chromosome band 7q31]
Location_base_pair Starts at 116165063 and ends at 116201239 bp from pter ( according to hg19-Feb_2009)  [Mapping CAV1.png]
Fusion genes
(updated 2016)
ANKRD1 (10q23.31) / CAV1 (7q31.2)CAV1 (7q31.2) / IQGAP2 (5q13.3)CAV1 (7q31.2) / MAST3 (19p13.11)
CAV1 (7q31.2) / MCM9 (6q22.31)CHCHD4 (3p25.1) / CAV1 (7q31.2)MET (7q31.2) / CAV1 (7q31.2)
OXR1 (8q23.1) / CAV1 (7q31.2)PRKCG (19q13.42) / CAV1 (7q31.2)ST7 (7q31.2) / CAV1 (7q31.2)
TES (7q31.2) / CAV1 (7q31.2)

DNA/RNA

 
  Figure A.
Figure B. present in the contig : NT 079596 of Genbank
Description The gene consists of 3 exons (respectively 30, 165 and 342 bp long) separated by two introns of 1.5 kb and 32 kb. Two isoforms have been identified: caveolin-1alpha (corresponding to the 2-178 sequence) and caveolin-1beta (corresponding to the 32-178 sequence). The two isoforms are generated by alternative splicing of the CAV1 gene (Kogo et al., 2000) and by alternative initiation of the same mRNA translation (Shatz et al., 2008).

Protein

 
  Structure of caveolin-1. Primary structure of caveolin (upper part of the image) with aminoacids colored to illustrate classic domains considered within its molecule. Tertiary structure of caveolin depicted in the lower part of the image shows: 4 alpha-helices, one corresponding to CSD partially embeded in the membrane, 2 alpha-helices corresponding to the transmembrane domain and an alpha helix in C-terminal end with variable length according to different authors. A beta-sheet organized region is also thought to exist in the oligomerisation domain of CAV1.
Description CAV1 (21-24kDa) is an integral membrane protein, expressing two isoforms (alpha and beta) of different length and distinct potential in caveolae formation. The full length CAV1 (isoform alpha, 178 aminoacids) has a hairpin-like structure spanning the plasmatic membrane, both C- and N-termini facing the cytosol. The beta isoform is 31 aminoacids shorter and is translated from the same mRNA as the longer form, but at divergent translation initiation sites. Both isoforms have two hydrophilic domains at the C- and N-termini, that flank a hydrophobic central domain. Several functional domains were defined. The membrane attachment domains are located at the N- and C-termini and are designated as N-MAD (residues 82-101) and C-MAD (residues 135-150). CAV1 containes palmitoylation sites on Cys 133, 143 and 156, involved in membrane anchorage. The central region (residues 102-134) (TMD) was first suggested to be the transmembrane domain, but, after predicting its beta-sheet rather than alpha-helix conformation, it was suggested that it is involved in hetero-oligomerization of CAV1 with caveolin-2 and in specific interactions with other proteins. The caveolin scaffolding domain (CSD), located at the N-terminus (aminoacids 82-101), is involved in the binding and inhibition of proteins containing a defined caveolin binding motif, such as ωxxxxωxxω or ωxωxxxxω - where ω is an aromatic aminoacid (Trp, Phe or Tyr). The oligomerization domain (aminoacids 61-101) contains CSD and directs the formation of homooligomers (14-16 CAV1 molecules), which interact with cholesterol and signaling molecules.
The structure of CAV1 underlies two separate important functions of the protein: membrane attachment and protein-protein interaction. CAV1 is reported to be involved in various cellular functions, like vesicular transport and regulation of signal transduction in cellular adhesion, growth, and survival.
Expression The table below shows the expression of CAV1 in different organs and tissues.
 
Localisation CAV1 is localized in the cytoplasmic side of the peripheral membrane of the cell in caveolae and in the Golgi apparatus membrane.
Membrane protein of caveolae. Potential hairpin-like structure in the membrane.
 
Function - Transforming suppressor activity in T cell leukemia.
- Playing a functional role in a novel post-Golgi trafficking pathway.
- Playing a crucial role in the mechanisms that coordinate lipid metabolism with the proliferative response occurring in the liver after cellular injury.
- Being essential for liver regeneration.
- Regulating the trafficking of SLC1A1 on and off the plasma membrane.
- As an important regulator of downstream signaling and membrane targeting of EPHB1.
- CAV1 represents a key switch between tumor suppression and metastases promotion.
 
Homology The table above shows the homology of CAV1 with different organisms.

Mutations

Somatic Converting proline-132 to leucine is a dominant-negative mutation of caveolin-1 that occurs in 16% of primary human breast cancer. Also identified six novel CAV1 mutations associated with ERalpha-positive breast cancers (W128Stop, Y118H, S136R, I141T, Y148H, and Y148S) (Li et al., 2006).This point mutation in the membrane spanning domain leads to mislocalization and intracellular retention of endogenous caveolin-1 and causes morphological transformation in NIH3T3 cells (Hayashi et al., 2001; Lee et al., 2002).
Converting isoleucine-141 to phenylalanine is a missense mutation of caveolin-1 found in human oral squamous cell carcinoma (Han et al., 2004).

Implicated in

Note
Note Clinical studies accordingly validated high caveolin-1 expression as a negative prognostic factor for the overall and/or disease-free survival in patients with tumors of gastrointestinal (GI) tract (esophagus and oral cavity, pancreas, kidney), prostate, breast, lung, and brain (meningioma). For other entities, including the GI-tract (stomach, colon, liver), bladder, thyroid, brain (glioma) and Ewing's sarcoma, increased caveolin-1 expression compared to matched normal tissue was validated by several independent detection methods (immunohistochemestry, pPCR, cDNAarray), however correlation with clinical outcome is pending (Burgermeister et al., 2008).
  
  
Entity Pancreatic cancer
Prognosis CAV1 expression is increased in pancreatic adenocarcinoma relative to peritumoral tissue. CAV1 expression correlates with tumor size, histological grade, conventional tissue marker for tumor progression and with reduced survival time after tumor resection. Increased CAV1 expression is an independent unfavorable prognostic factor following surgical resection. (Tanase, 2008; Suzuoki et al., 2002).
  
  
Entity Prostate cancer
Prognosis CAV1 expression is increased in metastatic human prostate cancer and that CAV1 cellular protein expression is predictive of recurrence of the disease after radical prostatectomy. Recently, we reported that CAV1 is secreted by androgen-insensitive prostate cancer cells, and we detected, by Western blotting, CAV1 in the high-density lipoprotein(3) fraction of serum specimens from patients with prostate cancer. (Tahir et al., 2003).
  
  
Entity Lung cancer
Prognosis Overexpression of caveolin-1 is significantly correlated with a poor prognosis in patients with pleomorphic carcinoma of the lung (PCL) and that it is a marker for predicting prognosis in PCL (Moon et al., 2005).
  
  
Entity Tyroid papillary carcinoma
Prognosis Studies investigated caveolin-1 expression in thyroid neoplasms by means of immunohistochemistry. Normal follicular cells did not express caveolin-1. In papillary carcinoma, caveolin-1 expression was observed in high incidence, and especially in microcancer. (Ito et al., 2002).
  
  
Entity Brain tumors
Prognosis All studied astrocitomas of any grade (from II to IV) were CAV1 positive, displaying staining patterns and intensity specifically associated to the different tumor grades. In glioblastomas and gliosarcomas, CAV1 staining is extremely intense, typically localized at the cell membrane and recognized a variable percentage of cells, including the majority of spindle cells and palisade-oriented perinecrotic cells. In contrast oligodendrogliomas lacks CAV1 immunoreactivity. A well structured membrane pattern of CAV1 associates with tumor progression, suggesting a neoplastic shift towards a mesenchymal phenotype. (Cassoni et al., 2007).
  
  
Entity Mammary carcinoma
Prognosis No Caveolin-1 expression was observed in epithelial cells of normal breast tissue, benign breast disease and ductal carcinoma in situ. However, Caveolin-1 expression was found in 32 of 109 cases of invasive breast carcinomas (29.4%). Caveolin-1 expression in invasive breast cancer could neither be correlated with survival parameters such as overall or disease-free survival nor with established clinical and pathological markers. (Liedtke et al., 2007).
  

Bibliography

Caveats of caveolin-1 in cancer progression.
Burgermeister E, Liscovitch M, Rocken C, Schmid RM, Ebert MP.
Cancer Lett. 2008 Sep 18;268(2):187-201. Epub 2008 May 14.
PMID 18482795
 
Caveolin-1 expression is variably displayed in astroglial-derived tumors and absent in oligodendrogliomas: concrete premises for a new reliable diagnostic marker in gliomas.
Cassoni P, Senetta R, Castellano I, Ortolan E, Bosco M, Magnani I, Ducati A.
Am J Surg Pathol. 2007 May;31(5):760-9.
PMID 17460461
 
Mutation and aberrant expression of Caveolin-1 in human oral squamous cell carcinomas and oral cancer cell lines.
Han SE, Park KH, Lee G, Huh YJ, Min BM.
Int J Oncol. 2004 Feb;24(2):435-40.
PMID 14719121
 
Invasion activating caveolin-1 mutation in human scirrhous breast cancers.
Hayashi K, Matsuda S, Machida K, Yamamoto T, Fukuda Y, Nimura Y, Hayakawa T, Hamaguchi M.
Cancer Res. 2001 Mar 15;61(6):2361-4.
PMID 11289096
 
Caveolin-1 overexpression is an early event in the progression of papillary carcinoma of the thyroid.
Ito Y, Yoshida H, Nakano K, Kobayashi K, Yokozawa T, Hirai K, Matsuzuka F, Matsuura N, Kakudo K, Kuma K, Miyauchi A.
Br J Cancer. 2002 Mar 18;86(6):912-6.
PMID 11953823
 
Caveolin-1 isoforms are encoded by distinct mRNAs. Identification Of mouse caveolin-1 mRNA variants caused by alternative transcription initiation and splicing.
Kogo H, Fujimoto T.
FEBS Lett. 2000 Jan 14;465(2-3):119-23.
PMID 10631317
 
Src-induced phosphorylation of caveolin-2 on tyrosine 19. Phospho-caveolin-2 (Tyr(P)19) is localized near focal adhesions, remains associated with lipid rafts/caveolae, but no longer forms a high molecular mass hetero-oligomer with caveolin-1.
Lee H, Park DS, Wang XB, Scherer PE, Schwartz PE, Lisanti MP.
J Biol Chem. 2002 Sep 13;277(37):34556-67. Epub 2002 Jun 28.
PMID 12091389
 
Caveolin-1 mutations in human breast cancer: functional association with estrogen receptor alpha-positive status.
Li T, Sotgia F, Vuolo MA, Li M, Yang WC, Pestell RG, Sparano JA, Lisanti MP.
Am J Pathol. 2006 Jun;168(6):1998-2013.
PMID 16723714
 
Caveolin-1 expression in benign and malignant lesions of the breast.
Liedtke C, Kersting C, Burger H, Kiesel L, Wulfing P.
World J Surg Oncol. 2007 Oct 3;5:110.
PMID 17915016
 
Expression of caveolin-1 in pleomorphic carcinoma of the lung is correlated with a poor prognosis.
Moon KC, Lee GK, Yoo SH, Jeon YK, Chung JH, Han J, Chung DH.
Anticancer Res. 2005 Nov-Dec;25(6C):4631-7.
PMID 16334154
 
Caveolin-1: a tumor-promoting role in human cancer.
Shatz M, Liscovitch M.
Int J Radiat Biol. 2008 Mar;84(3):177-89.
PMID 18300018
 
Impact of caveolin-1 expression on prognosis of pancreatic ductal adenocarcinoma.
Suzuoki M, Miyamoto M, Kato K, Hiraoka K, Oshikiri T, Nakakubo Y, Fukunaga A, Shichinohe T, Shinohara T, Itoh T, Kondo S, Katoh H.
Br J Cancer. 2002 Nov 4;87(10):1140-4.
PMID 12402154
 
Development of an immunoassay for serum caveolin-1: a novel biomarker for prostate cancer.
Tahir SA, Ren C, Timme TL, Gdor Y, Hoogeveen R, Morrisett JD, Frolov A, Ayala G, Wheeler TM, Thompson TC.
Clin Cancer Res. 2003 Sep 1;9(10 Pt 1):3653-9.
PMID 14506154
 
Caveolin-1: a marker for pancreatic cancer diagnosis.
Tanase CP.
Expert Rev Mol Diagn. 2008 Jul;8(4):395-404.
PMID 18598222
 

Citation

This paper should be referenced as such :
Tanase, C
CAV1 (caveolin 1, caveolae protein, 22kDa)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(11):788-792.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CAV1ID932ch7q31.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;4)(p22;q12) STRN/PDGFRA


External links

Nomenclature
HGNC (Hugo)CAV1   1527
Cards
AtlasCAV1ID932ch7q31
Entrez_Gene (NCBI)CAV1  857  caveolin 1
AliasesBSCL3; CGL3; LCCNS; MSTP085; 
PPH3; VIP21
GeneCards (Weizmann)CAV1
Ensembl hg19 (Hinxton)ENSG00000105974 [Gene_View]  chr7:116165063-116201239 [Contig_View]  CAV1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000105974 [Gene_View]  chr7:116165063-116201239 [Contig_View]  CAV1 [Vega]
ICGC DataPortalENSG00000105974
TCGA cBioPortalCAV1
AceView (NCBI)CAV1
Genatlas (Paris)CAV1
WikiGenes857
SOURCE (Princeton)CAV1
Genetics Home Reference (NIH)CAV1
Genomic and cartography
GoldenPath hg19 (UCSC)CAV1  -     chr7:116165063-116201239 +  7q31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CAV1  -     7q31   [Description]    (hg38-Dec_2013)
EnsemblCAV1 - 7q31 [CytoView hg19]  CAV1 - 7q31 [CytoView hg38]
Mapping of homologs : NCBICAV1 [Mapview hg19]  CAV1 [Mapview hg38]
OMIM601047   606721   612526   615343   
Gene and transcription
Genbank (Entrez)AB209926 AB451284 AB451416 AF070648 AF074993
RefSeq transcript (Entrez)NM_001172895 NM_001172896 NM_001172897 NM_001753
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_012051 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)CAV1
Cluster EST : UnigeneHs.74034 [ NCBI ]
CGAP (NCI)Hs.74034
Alternative Splicing GalleryENSG00000105974
Gene ExpressionCAV1 [ NCBI-GEO ]   CAV1 [ EBI - ARRAY_EXPRESS ]   CAV1 [ SEEK ]   CAV1 [ MEM ]
Gene Expression Viewer (FireBrowse)CAV1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)857
GTEX Portal (Tissue expression)CAV1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03135   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03135  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03135
Splice isoforms : SwissVarQ03135
PhosPhoSitePlusQ03135
Domaine pattern : Prosite (Expaxy)CAVEOLIN (PS01210)   
Domains : Interpro (EBI)Caveolin    Caveolin_1    Caveolin_CS   
Domain families : Pfam (Sanger)Caveolin (PF01146)   
Domain families : Pfam (NCBI)pfam01146   
Conserved Domain (NCBI)CAV1
DMDM Disease mutations857
Blocks (Seattle)CAV1
SuperfamilyQ03135
Human Protein AtlasENSG00000105974
Peptide AtlasQ03135
HPRD03028
IPIIPI00009236   IPI00759683   IPI00876941   IPI00815813   IPI00853146   IPI00852906   IPI00877883   
Protein Interaction databases
DIP (DOE-UCLA)Q03135
IntAct (EBI)Q03135
FunCoupENSG00000105974
BioGRIDCAV1
STRING (EMBL)CAV1
ZODIACCAV1
Ontologies - Pathways
QuickGOQ03135
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  Golgi membrane  Golgi membrane  MAPK cascade  inactivation of MAPK activity  RNA polymerase I transcription factor binding  angiogenesis  vasculogenesis  response to hypoxia  negative regulation of endothelial cell proliferation  positive regulation of endothelial cell proliferation  negative regulation of cytokine-mediated signaling pathway  acrosomal membrane  response to ischemia  regulation of the force of heart contraction by chemical signal  receptor binding  patched binding  structural molecule activity  protein binding  intracellular  mitochondrion  endosome  peroxisomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  caveola  focal adhesion  focal adhesion  cilium  cell cortex  triglyceride metabolic process  calcium ion transport  cellular calcium ion homeostasis  regulation of smooth muscle contraction  skeletal muscle tissue development  response to nutrient  lactation  protein localization  cellular response to starvation  response to bacterium  basal plasma membrane  cell surface  response to gamma radiation  positive regulation of calcium ion transport into cytosol  posttranscriptional regulation of gene expression  positive regulation of gene expression  negative regulation of muscle cell apoptotic process  positive regulation of peptidase activity  cholesterol binding  membrane  vesicle organization  basolateral plasma membrane  apical plasma membrane  peptidase activator activity  receptor-mediated endocytosis of virus by host cell  regulation of fatty acid metabolic process  enzyme binding  protein kinase binding  syntaxin binding  lipid storage  regulation of blood coagulation  cholesterol transport  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  endocytic vesicle membrane  protein binding, bridging  negative regulation of epithelial cell differentiation  mammary gland development  organ regeneration  positive regulation of microtubule polymerization  T cell costimulation  negative regulation of protein ubiquitination  positive regulation of protein ubiquitination  cytoplasmic vesicle  receptor internalization  early endosome membrane  negative regulation of protein binding  positive regulation of protein binding  maintenance of protein location in cell  response to progesterone  protein complex scaffold  negative regulation of peptidyl-serine phosphorylation  positive regulation of peptidyl-serine phosphorylation  cholesterol efflux  nitric oxide homeostasis  VCP-NPL4-UFD1 AAA ATPase complex  positive regulation of toll-like receptor 3 signaling pathway  wound healing  vasoconstriction  response to drug  negative regulation of tyrosine phosphorylation of Stat5 protein  cholesterol homeostasis  cholesterol homeostasis  identical protein binding  protein complex  negative regulation of MAPK cascade  response to estrogen  ion channel binding  protein localization to plasma membrane raft  negative regulation of nitric oxide biosynthetic process  membrane raft  negative regulation of neuron differentiation  positive regulation of endocytosis  positive regulation of vasoconstriction  negative regulation of JAK-STAT cascade  microtubule polymerization  protein heterodimerization activity  Rac GTPase binding  perinuclear region of cytoplasm  perinuclear region of cytoplasm  negative regulation of pinocytosis  negative regulation of smooth muscle cell proliferation  leukocyte migration  nitric-oxide synthase binding  regulation of nitric-oxide synthase activity  negative regulation of nitric-oxide synthase activity  ATPase binding  protein homooligomerization  response to glucocorticoid  regulation of cytosolic calcium ion concentration  response to calcium ion  membrane depolarization  regulation of peptidase activity  calcium ion homeostasis  mammary gland involution  positive regulation of cell adhesion molecule production  negative regulation of necroptotic process  negative regulation of protein tyrosine kinase activity  inward rectifier potassium channel inhibitor activity  negative regulation of ERK1 and ERK2 cascade  caveola assembly  caveola assembly  caveola assembly  cellular response to mechanical stimulus  cellular response to exogenous dsRNA  cellular response to peptide hormone stimulus  cellular response to hyperoxia  cellular response to transforming growth factor beta stimulus  caveolin-mediated endocytosis  regulation of heart rate by cardiac conduction  angiotensin-activated signaling pathway involved in heart process  negative regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  cellular senescence  apoptotic signaling pathway  MDM2/MDM4 family protein binding  regulation of membrane repolarization during action potential  regulation of cardiac muscle cell action potential involved in regulation of contraction  regulation of ventricular cardiac muscle cell action potential  regulation of ruffle assembly  negative regulation of peptidyl-tyrosine autophosphorylation  negative regulation of potassium ion transmembrane transport  regulation of cell communication by electrical coupling involved in cardiac conduction  regulation of inward rectifier potassium channel activity  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  protein localization to basolateral plasma membrane  positive regulation of gap junction assembly  beta-catenin destruction complex disassembly  receptor internalization involved in canonical Wnt signaling pathway  regulation of entry of bacterium into host cell  negative regulation of anoikis  positive regulation of extrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  negative regulation of cation channel activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  Golgi membrane  Golgi membrane  MAPK cascade  inactivation of MAPK activity  RNA polymerase I transcription factor binding  angiogenesis  vasculogenesis  response to hypoxia  negative regulation of endothelial cell proliferation  positive regulation of endothelial cell proliferation  negative regulation of cytokine-mediated signaling pathway  acrosomal membrane  response to ischemia  regulation of the force of heart contraction by chemical signal  receptor binding  patched binding  structural molecule activity  protein binding  intracellular  mitochondrion  endosome  peroxisomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  caveola  caveola  focal adhesion  focal adhesion  cilium  cell cortex  triglyceride metabolic process  calcium ion transport  cellular calcium ion homeostasis  regulation of smooth muscle contraction  skeletal muscle tissue development  response to nutrient  lactation  protein localization  cellular response to starvation  response to bacterium  basal plasma membrane  cell surface  response to gamma radiation  positive regulation of calcium ion transport into cytosol  posttranscriptional regulation of gene expression  positive regulation of gene expression  negative regulation of muscle cell apoptotic process  positive regulation of peptidase activity  cholesterol binding  membrane  vesicle organization  basolateral plasma membrane  apical plasma membrane  peptidase activator activity  receptor-mediated endocytosis of virus by host cell  regulation of fatty acid metabolic process  enzyme binding  protein kinase binding  syntaxin binding  lipid storage  regulation of blood coagulation  cholesterol transport  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  endocytic vesicle membrane  protein binding, bridging  negative regulation of epithelial cell differentiation  mammary gland development  organ regeneration  positive regulation of microtubule polymerization  T cell costimulation  negative regulation of protein ubiquitination  positive regulation of protein ubiquitination  cytoplasmic vesicle  receptor internalization  early endosome membrane  negative regulation of protein binding  positive regulation of protein binding  maintenance of protein location in cell  response to progesterone  protein complex scaffold  negative regulation of peptidyl-serine phosphorylation  positive regulation of peptidyl-serine phosphorylation  cholesterol efflux  nitric oxide homeostasis  VCP-NPL4-UFD1 AAA ATPase complex  positive regulation of toll-like receptor 3 signaling pathway  wound healing  vasoconstriction  response to drug  negative regulation of tyrosine phosphorylation of Stat5 protein  cholesterol homeostasis  cholesterol homeostasis  identical protein binding  protein complex  negative regulation of MAPK cascade  response to estrogen  ion channel binding  protein localization to plasma membrane raft  negative regulation of nitric oxide biosynthetic process  membrane raft  negative regulation of neuron differentiation  positive regulation of endocytosis  positive regulation of vasoconstriction  negative regulation of JAK-STAT cascade  microtubule polymerization  protein heterodimerization activity  Rac GTPase binding  perinuclear region of cytoplasm  perinuclear region of cytoplasm  negative regulation of pinocytosis  negative regulation of smooth muscle cell proliferation  leukocyte migration  nitric-oxide synthase binding  regulation of nitric-oxide synthase activity  negative regulation of nitric-oxide synthase activity  ATPase binding  protein homooligomerization  response to glucocorticoid  regulation of cytosolic calcium ion concentration  response to calcium ion  membrane depolarization  regulation of peptidase activity  calcium ion homeostasis  mammary gland involution  positive regulation of cell adhesion molecule production  negative regulation of necroptotic process  negative regulation of protein tyrosine kinase activity  inward rectifier potassium channel inhibitor activity  negative regulation of ERK1 and ERK2 cascade  caveola assembly  caveola assembly  caveola assembly  cellular response to mechanical stimulus  cellular response to exogenous dsRNA  cellular response to peptide hormone stimulus  cellular response to hyperoxia  cellular response to transforming growth factor beta stimulus  caveolin-mediated endocytosis  regulation of heart rate by cardiac conduction  angiotensin-activated signaling pathway involved in heart process  negative regulation of canonical Wnt signaling pathway  positive regulation of canonical Wnt signaling pathway  cellular senescence  apoptotic signaling pathway  MDM2/MDM4 family protein binding  regulation of membrane repolarization during action potential  regulation of cardiac muscle cell action potential involved in regulation of contraction  regulation of ventricular cardiac muscle cell action potential  regulation of ruffle assembly  negative regulation of peptidyl-tyrosine autophosphorylation  negative regulation of potassium ion transmembrane transport  regulation of cell communication by electrical coupling involved in cardiac conduction  regulation of inward rectifier potassium channel activity  positive regulation of ER-associated ubiquitin-dependent protein catabolic process  protein localization to basolateral plasma membrane  positive regulation of gap junction assembly  beta-catenin destruction complex disassembly  receptor internalization involved in canonical Wnt signaling pathway  regulation of entry of bacterium into host cell  negative regulation of anoikis  positive regulation of extrinsic apoptotic signaling pathway  positive regulation of intrinsic apoptotic signaling pathway  negative regulation of cation channel activity  
Pathways : BIOCARTAIntegrin Signaling Pathway [Genes]    Actions of Nitric Oxide in the Heart [Genes]   
Pathways : KEGGEndocytosis    Focal adhesion    Bacterial invasion of epithelial cells    Proteoglycans in cancer    Viral myocarditis   
REACTOMEQ03135 [protein]
REACTOME Pathways163560 [pathway]   203615 [pathway]   203641 [pathway]   210991 [pathway]   4641262 [pathway]   5218920 [pathway]   
NDEx NetworkCAV1
Atlas of Cancer Signalling NetworkCAV1
Wikipedia pathwaysCAV1
Orthology - Evolution
OrthoDB857
GeneTree (enSembl)ENSG00000105974
Phylogenetic Trees/Animal Genes : TreeFamCAV1
HOVERGENQ03135
HOGENOMQ03135
Homologs : HomoloGeneCAV1
Homology/Alignments : Family Browser (UCSC)CAV1
Gene fusions - Rearrangements
Fusion : MitelmanST7/CAV1 [7q31.2/7q31.2]  [t(7;7)(q31;q31)]  
Fusion: TCGAST7 7q31.2 CAV1 7q31.2 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCAV1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CAV1
dbVarCAV1
ClinVarCAV1
1000_GenomesCAV1 
Exome Variant ServerCAV1
ExAC (Exome Aggregation Consortium)CAV1 (select the gene name)
Genetic variants : HAPMAP857
Genomic Variants (DGV)CAV1 [DGVbeta]
DECIPHER (Syndromes)7:116165063-116201239  ENSG00000105974
CONAN: Copy Number AnalysisCAV1 
Mutations
ICGC Data PortalCAV1 
TCGA Data PortalCAV1 
Broad Tumor PortalCAV1
OASIS PortalCAV1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCAV1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCAV1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CAV1
DgiDB (Drug Gene Interaction Database)CAV1
DoCM (Curated mutations)CAV1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CAV1 (select a term)
intoGenCAV1
NCG5 (London)CAV1
Cancer3DCAV1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601047    606721    612526    615343   
Orphanet1007    20328    18906    18905   
MedgenCAV1
Genetic Testing Registry CAV1
NextProtQ03135 [Medical]
TSGene857
GENETestsCAV1
Huge Navigator CAV1 [HugePedia]
snp3D : Map Gene to Disease857
BioCentury BCIQCAV1
ClinGenCAV1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD857
Chemical/Pharm GKB GenePA26107
Clinical trialCAV1
Miscellaneous
canSAR (ICR)CAV1 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCAV1
EVEXCAV1
GoPubMedCAV1
iHOPCAV1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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