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CAV1 Gene

protein-coding   GIFtS: 68

GC07P115952
caveolin 1, caveolae protein, 22kDa
(Previous names: caveolin 1, caveolae protein, 22kD )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CAV)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
BSCL3 2, 5
CAV 2, 3
CGL3 2, 5
MSTP085 2
OTTHUMP00000025031 2
VIP21 2
Descriptions
caveolae protein, 22-kD 2
caveolin 1 2
caveolin 1, alpha isoform 2
caveolin 1, beta isoform 2
caveolin 1, caveolae protein, 22kD 1
caveolin 1, caveolae protein, 22kDa 2
cell growth-inhibiting protein 32 2
External Ids
HGNC: 15271
Entrez Gene: 8572
UniProtKB: Q031353
Ensembl: ENSG000001059747
Search outside databases for aliases for CAV1 gene

Previous GC identifers: GC07P114642 GC07P115705 GC07P115719 GC07P115758

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CAV1:
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 MAP
kinase cascade. CAV1 and CAV2 are located next to each other on chromosome 7 and express
colocalizing proteins that form a stable hetero-oligomeric complex. By using alternative
initiation codons in the same reading frame, two isoforms (alpha and beta) are encoded by a single
transcript from this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135
Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with
G-protein alpha subunits and can functionally regulate their activity (By similarity)

Gene Wiki entry for CAV1 (Caveolin_1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CAV1 gene  

Entrez Gene cytogenetic band: 7q31.1   Ensembl cytogenetic band:  7q31.2   HGNC cytogenetic band: 7q31

CAV1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P115952:     (about GC identifiers)

Start:
115,952,075 bp from pter
End:
115,988,469 bp from pter
Size:
36,395 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 115,560,275-115,596,670     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135 (See protein sequence)
Recommended Name: Caveolin-1  
Size: 178 amino acids; 20472 Da
Subunit: Homooligomer. Interacts with GLIPR2, NOSTRIN, SNAP25 and syntaxin. Interacts with
rotavirus A NSP4
Subcellular location: Golgi apparatus membrane; Single-pass membrane protein. Cell membrane;
Single-pass membrane protein. Membrane, caveola; Single-pass membrane protein. Note=Potential
hairpin-like structure in the membrane. Membrane protein of caveolae
Secondary accessions: Q9UGP1 Q9UNG1 Q9UQH6
Alternative initiation: 2 isoforms:  Q03135-1   Q03135-2   

Post-translational modifications:

  • The initiator methionine for isoform Beta is removed during or just after translation. The new
    N-terminal amino acid is then N-acetylated1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_001744.2  

    ENSEMBL proteins: 
    ENSP00000339191 ENSP00000377113 ENSP00000384348 ENSP00000377111 ENSP00000377110 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (Caveolin 1)
    Human Recombinant Proteins from Abnova (CAV1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IDA11294831
    GO:0005783 endoplasmic reticulum IDA11294831
    GO:0005794 Golgi apparatus IEA--
    GO:0005811 lipid particle EXP9188442 9580552 10781589 16722822 16807357
    GO:0005886 plasma membrane IEA--
    About this table

    Antibodies for CAV1: 
    Invitrogen Antibodies for CAV1
    Millipore Mono- and Polyclonal Antibodies for the study of CAV1
    Sigma-Aldrich Antibody Arrays and Antibodies for CAV1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for CAV1  (Caveolin-1)
    Antibodies from Abcam (Caveolin 1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CAV1)
    Novus Biologicals Antibodies for CAV1

    Assays for CAV1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    3 InterPro domains/families:
     IPR001612 Caveolin
     IPR015504 Caveolin_1
     IPR018361 Caveolin_CS


       GeneDecks  CAV1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q03135

    ProtoNet protein and cluster: Q03135

    1 Blocks protein family: IPB001612 Caveolin

    UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135
    Similarity: Belongs to the caveolin family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CAV1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001753

                  Applied Biosystems Silencer® siRNAs for CAV1

                  Sigma-Aldrich siRNA and siRNA Panels for CAV1  
                         Sigma-Aldrich shRNA Panels and shRNA for CAV1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for CAV1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001753
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001753
                                     untagged cDNA clone in CMV expression vector: NM_001753 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001753

    UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135
    Function: May act as a scaffolding protein within caveolar membranes. Interacts directly with
    G-protein alpha subunits and can functionally regulate their activity (By similarity)

    Genatlas biochemistry entry for CAV1:
    caveolin,major component of the inner surface of caveolae,small invaginations of the plasma
    membrane,expressed in adipocytes,smooth muscle,type I pneumocytes,colocalizing and forming a
    stable hetero-oligomeric complex with CAV2,with transforming suppressor activity abnormal
    expressed in T cell leukemia in lung carcinoma and in breast cell carcinoma lines) s,relation to
    methylation of a CpG island in the 5'promoter region

    15/17 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Cav1) (see all 17 ):

    adipose tissuebehavior/neurologicalcellularendocrine/exocrine gland
    growth/sizehomeostasis/metabolismimmune systemlife span-post-weaning/agingliver/biliary system
    muscleotherrenal/urinary systemreproductive systemrespiratory system

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198 structural molecule activity IDA11865038
    GO:0005515 protein binding IPI16951145
    GO:0015485 cholesterol binding TAS11294831
    GO:0016504 peptidase activator activity ISS--
    GO:0050998 nitric-oxide synthase binding IPI12852865
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5 Invitrogen iPath™ Online BioAtlas - Pathways for CAV1 (Maps provided by GeneGo):
     TGF-beta receptor signaling
     G-Protein alpha-i signaling cascades
     Ceramide-dependent NO antiapoptotic action
     Regulation of lipid metabolism via LXR, NF-Y and SREBP
     G-Protein beta/gamma signaling cascades

       GeneDecks  CAV1 for the pathways selected above  
    About GeneDecksing

    5/9 Millipore Pathways for CAV1 (see all 9 )
     Development EDNRB signaling
     Cytoskeleton remodeling Fibronectin-binding integrins in cell motility
     Development TGF-beta receptor signaling
     Translation Non-genomic (rapid) action of Androgen Receptor
     Development Ligand-independent activation of ESR1 and ESR2

       GeneDecks  CAV1 for the pathways selected above  
    About GeneDecksing

    5 Sigma-Aldrich "Your Favorite Gene" Pathways for  CAV1  (Your Favorite Gene powered by Ingenuity) 
     Caveolar-mediated Endocytosis
     PDGF Signaling
     Nitric Oxide Signaling in the Cardiovascular System
     Integrin Signaling
     Virus Entry via Endocytic Pathways

       GeneDecks  CAV1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for CAV1):
     hsa04510 Focal adhesion

       GeneDecks  CAV1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CAV1 


    5/153 Interacting proteins for CAV1 (ENSP000003391913 Q031351, 2) via UniProtKB, MINT, and/or STRING (see all 153 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CAV2P516361STRING (score=.991) EBI-603614, EBI-603607
    FLOT1O759551STRING (score=.843) EBI-603614, EBI-603643
    FLOT2Q142541STRING (score=.969) EBI-603614, EBI-348613
    ID1P411341STRING (score=.921) EBI-603614, EBI-1215527
    PTPN1P180312STRING (score=.988) MINT-6793807 MINT-6793849 MINT-6764852 MINT-6764881 MINT-6764866
    About this table

    5/29 Gene Ontology (GO) biological process terms (links to tree view) (see all 29 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000188 inactivation of MAPK activity ISS--
    GO:0001570 vasculogenesis ISS--
    GO:0001666 response to hypoxia ISS--
    GO:0001937 negative regulation of endothelial cell proliferation ISS--
    GO:0006641 triglyceride metabolic process ISS--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for CAV1
    10/56 Novoseek chemical compound relationships for CAV1 gene (see all 56 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 68.44 161 10833523 (5), 12269838 (5), 11073854 (4), 11287334 (3) (see all 84)
    lipid 65.53 167 11980479 (4), 19059381 (3), 19250636 (3), 18635971 (3) (see all 99)
    tyrosine 51.34 88 11094059 (7), 15466865 (4), 11339833 (3), 12354760 (3) (see all 47)
    nitric oxide 50.53 112 18717816 (8), 9712842 (6), 17112410 (4), 11114180 (2) (see all 52)
    gm1 ganglioside 50.52 3 16427620 (1), 10859219 (1), 12226079 (1)
    ganglioside 47.80 17 12354760 (4), 17942932 (4), 17704805 (2), 10866823 (1) (see all 7)
    sucrose 47.73 27 16038619 (1), 16415176 (1), 18056712 (1), 18079116 (1) (see all 19)
    cyclodextrin 43.93 2 12529448 (1), 12372346 (1)
    glycolipid 40.94 3 16672766 (1), 11724808 (1), 19017221 (1)
    sterol 40.04 7 14992595 (3), 15226391 (1), 18849545 (1), 15388640 (1) (see all 5)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CAV1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001753

                  Sigma-Aldrich siRNA and siRNA Panels for CAV1  
                         Sigma-Aldrich shRNA Panels and shRNA for CAV1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001753  

    REFSEQ mRNAs for CAV1 gene: 

    NM_001753.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001753  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_001753
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_001753
                                     untagged cDNA clone in CMV expression vector: NM_001753 

    Additional cDNA sequence: 

    AB209926.1 AB451284.1 AB451416.1 AF070648.1 AF074993.1 AF172085.1 AK290871.1 AK307501.1 
    AL133639.1 AY762103.1 BC009685.1 BC082246.1 BT007143.1 EF179101.1 EF179102.1 EF649773.1 
    EF649774.1 Z18951.1 

    24/25 DOTS entries (see all 25 ):

    DT.100882864  DT.454239  DT.121125607  DT.121125557  DT.121125609  DT.121125597  DT.100718793  DT.100038859 
    DT.100882861  DT.97862297  DT.100882878  DT.121125509  DT.100882869  DT.100882870  DT.100729430  DT.100882873 
    DT.75119128  DT.95105984  DT.97767377  DT.100882874  DT.100882877  DT.121125507  DT.121125615  DT.121125618 

    24/834 AceView cDNA sequences (see all 834 ):

    T34600 BQ027115 AA037446 BQ939943 AA861847 AA662526 CB044857 BQ889781 
    BQ030204 BF437334 CA435754 CA436151 AW298028 AA373326 CA434239 AA972868 
    BQ002421 W80871 BM669670 CB115559 CB112889 BU681007 AA094362 AL551274 

    highest scoring ESTs for CAV1:

    AA032028 AA034380 AA044994 AA047106 AA055368 AA080891 AA149439 AA159249 AA487560 AA533068 

    Unigene Cluster for CAV1:

    Caveolin 1, caveolae protein, 22kDa
    Hs.74034  [show with all ESTs]
    Unigene Representative Sequence: NM_001753


    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CAV1 (see all 6 )

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d · 4e
    SP1:                    -     -     -                 -                                 
    SP2:                    -     -     -     -           -                                 
    SP3:                          -     -                 -                                 
    SP4:                                -                 -                                 
    SP5:                    -     -     -                                                   

    About this scheme

    ECgene alternative splicing isoforms for CAV1

    5 Ensembl transcripts including schematic representations:
    ENST00000341049  ENST00000393470  ENST00000405348  ENST00000393468  ENST00000393467  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CAV1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CAV1

    1 / 2 / 3

    5 probe-sets matching CAV1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36119_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF070648 0.80 1.00 0.91 1

    212097_at2, 3 U133-A 1 1.00 1.00 -- -- AU147399 0.80 1.00 0.91 1

    203065_s_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001753 0.60 1.00 0.82 1

    212097_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    203065_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  CAV1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TCCTGTAAAG

    SOURCE GeneReport for Unigene cluster: Hs.74034

    Expression variation in blood from EXPOLDB for CAV1

    UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135
    Tissue specificity: In muscle and lung, less so in liver, brain and kidney

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for CAV1 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CAV11   -- caveolin 1, caveolae protein, 22kDa 93.97(n)
    96.61(a)
    403980  NM_001003296.1  NP_001003296.1 
    chimpanzee
    (Pan troglodytes)
    CAV11   -- caveolin 1, caveolae protein, 22kDa 100(n)
    100(a)
    463670  XM_519325.2  XP_519325.2 
    cow
    (Bos taurus)
    CAV11   -- caveolin 1, caveolae protein, 22kDa 93.63(n)
    96.07(a)
    281040  NM_174004.3  NP_776429.1 
    rat
    (Rattus norvegicus)
    Cav11   -- caveolin 1, caveolae protein 92.51(n)
    94.38(a)
    25404  NM_031556.1  NP_113744.1 
    mouse
    (Mus musculus)
    Cav11, 5 65
    caveolin 1, caveolae protein1, 5 92.32(n)1
    94.94(a)1
    123891  NM_007616.31  NP_031642.11 
     AB0299295  AB0299305  (see all 19)
    About this table        Species with no ortholog for CAV1

    ENSEMBL Gene Tree for CAV1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CAV1 gene
    CAV22  CAV32  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/271 NCBI SNPs in CAV1 are shown (see all 271 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 134)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs10493141,2
    A,C,F,H115986931(+) ACCAAC/AAACCT 1 -- ut3110Minor allele frequency- A:0.18MN CSAM EA EU WA 952
    rs10493371,2
    A,C,F,H115987823(+) GCATCC/TCTTTG 1 -- ut3114Minor allele frequency- T:0.41EA MN NA CSAM EU WA 2602
    --
    rs22154481,2
    C,F,H,O115951188(+) GAAGCG/ATAAGT 1 -- ng5114Minor allele frequency- A:0.14NS EU EA WA MN CSAM 894
    rs87131,2
    A,C,F,H115987033(+) CAGCAA/CACTCT 1 -- ut3117Minor allele frequency- C:0.17MN NA CSAM EA EU WA 1512
    rs68671,2
    C,F,H115987759(+) CAACCG/ATCTGT 1 -- ut31 ese315Minor allele frequency- A:0.16MN CSAM EA EU WA 1602
    rs69558821,2
    A,F,H115988792(+) CTTAGC/TGAAAG 1 -- ng314Minor allele frequency- T:0.02EU EA WA 420
    rs99201,2
    C,F,H115987328(+) GAATAT/CCCATG 1 -- ut3114Minor allele frequency- C:0.03MN CSAM EA EU WA 1412
    rs10493341,2
    C,F,H115987616(+) TCACCG/AGGGTG 1 -- ut31 ese317Minor allele frequency- A:0.12MN NA CSAM EA EU WA 1550
    --
    rs69754421,2
    C,H115950524(+) ggaagG/AaagAC 1 -- ng51 trp34Minor allele frequency- A:0.00EU EA WA 410
    --
    rs64665821,2
    A,C115950339(+) agaaaA/Gaaaag 1 -- ng51 trp30--------
    About this table

    HapMap Linkage Disequilibrium images for CAV1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 601047   disorders: 612526  

    UniProtKB/Swiss-Prot: CAV1_HUMAN, Q03135

  • Defects in CAV1 are the cause of congenital generalized lipodystrophy type 3 (CGL3)
    [MIM:612526]; also called Berardinelli-Seip congenital lipodystrophy type 3 (BSCL3). Congenital
    generalized lipodystrophies are autosomal recessive disorders characterized by a near absence of
    adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early
    onset of diabetes
  • 10/87 Novoseek disease relationships for CAV1 gene (see all 87 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 48.10 396 18922892 (8), 12759258 (6), 17460461 (5), 11170154 (5) (see all 99)
    cancer 44.39 129 12898235 (4), 18300018 (4), 15247769 (4), 15553909 (3) (see all 63)
    prostate cancer 43.15 131 14634273 (6), 15948133 (6), 12352463 (5), 14506154 (5) (see all 35)
    breast cancer 39.83 104 15305200 (8), 17915016 (5), 19342880 (5), 15334058 (4) (see all 37)
    cholera 36.41 7 18729494 (1), 12794078 (1), 18316074 (1), 18755811 (1) (see all 6)
    colon cancer 33.81 29 15069532 (3), 17724373 (2), 11059785 (2), 18283336 (2) (see all 16)
    metastasis 31.98 86 14764125 (5), 15334058 (5), 19002186 (5), 15355971 (4) (see all 34)
    oncocytoma 30.58 4 16613342 (3), 12810205 (1)
    adenocarcinoma 29.91 47 17606426 (6), 11345836 (4), 12402154 (2), 19160064 (2) (see all 21)
    muscular dystrophies 28.89 2 17629760 (2)
    About this table

    Human Gene Mutation Database: CAV1
    Genetic Association Database: CAV1
    Human Genome Epidemiology Navigator: CAV1 (7 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/902 PubMed articles for CAV1 gene (see all 902 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 857 HGNC: 1527 AceView: CAV1 Ensembl:ENSG00000105974 euGenes: HUgn857
    ECgene: CAV1 H-InvDB: CAV1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for CAV1 Genetics and Cytogenetics in Oncology and Haematology
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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