Gene: CAVIN1

Alternate names for this Gene: CAVIN|CGL4|FKSG13|PTRF|cavin-1

Gene Summary: 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.2

Description of this Gene: caveolae associated protein 1

Type of Gene: protein-coding

rs11871801 in CAVIN1 gene and Crohn Disease PMID 21102463 2010 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

PMID 18587394 2008 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

rs8068844 in CAVIN1 gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs56364076 in CAVIN1 gene and Psoriasis PMID 25903422 2015 Genome-wide meta-analysis identifies multiple novel associations and ethnic heterogeneity of psoriasis susceptibility.

PMID 23143594 2012 Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity.