PTRF

GENE INFORMATION

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Gene name

PTRF (HGNC Symbol)

Synonyms

cavin-1, CAVIN1

Description

Polymerase I and transcript release factor (HGNC Symbol)

Entrez 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. [provided by RefSeq, Nov 2009]

Chromosome

17

Cytoband

q21.2

Chromosome location (bp)

42402452 - 42423517

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000177469 (version 78.38)

Entrez gene

284119

UniProt

Q6NZI2 (UniProt - Evidence at protein level)

neXtProt

NX_Q6NZI2

Antibodypedia

PTRF antibodies
 

PROTEIN VIEW

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PTRF-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PTRF-001 ENSP00000349541
ENST00000357037
Q6NZI2
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