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Gene : CAVIN1 Homo sapiens

Name  ? caveolae associated protein 1 Cytological Location  17q21.2
Brief Description  caveolae associated protein 1
Description  This gene encodes a protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
  • synonyms:
  • HGNC:9688,
  • CAVIN,
  • CGL4,
  • cavin-1,
  • polymerase I and transcript release factor,
  • CGL4,
  • uc002hzo.4,
  • PTRF,
  • cavin-1,
  • AF000421,
  • OTTHUMG00000180137,
  • CAVIN1,
  • FKSG13,
  • PTRF,
  • NM_012232,
  • congenital generalized lipodystrophy 4
  • identifiers:
  • 284119,
  • ENSG00000177469,
  • CAVIN1

Genome feature

Region: gene ? Length: 20821  
Location: 17:42402449-42423269 reverse strand Cyto location: 17q21.2

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1 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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3740 SNPs

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results