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Gene : CAV1 Homo sapiens

Name  ? caveolin 1 Cytological Location  7q31.2
Brief Description  caveolin 1
Description  The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
  • synonyms:
  • OTTHUMG00000023413,
  • CAV,
  • CGL3,
  • VIP21,
  • MSTP085,
  • BSCL3,
  • NM_001753,
  • caveolin 1, caveolae protein, 22kD,
  • CAV1,
  • uc003vif.3,
  • LCCNS,
  • PPH3,
  • HGNC:1527,
  • AF125348,
  • caveolin 1, caveolae protein, 22kDa
  • identifiers:
  • 857,
  • ENSG00000105974,
  • CAV1

Genome feature

Region: gene ? Length: 36177  
Location: 7:116525009-116561185 Cyto location: 7q31.2


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

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Other

851 SN Ps

5 Cross References

20 Data Sets

5 Homologues

8 Located Features

97 Rna Seq Results