CAVIN1, Official Symbol CAVIN1provided by HGNC Official Full Name caveolae associated protein 1provided by HGNC Primary source HGNC:HGNC:9688 See related Ensembl:ENSG00000177469 MIM:603198; AllianceGenome:HGNC:9688 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CGL4; PTRF; CAVIN; FKSG13; cavin-1 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. [provided by RefSeq, Nov 2009] Expression Broad expression in fat (RPKM 182.5), lung (RPKM 83.2) and 21 other tissues See more Orthologs mouse all