NP_036364.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
polymerase I and transcript release factor
NCBI Official Synonym Full Names
polymerase I and transcript release factor
NCBI Official Synonym Symbols
CGL4; CAVIN; CAVIN1; FKSG13; cavin-1 [Similar Products]
NCBI Protein Information
polymerase I and transcript release factor; PTRF; TTF-I interacting peptide 12; RNA polymerase I and transcript release factor
UniProt Protein Name
Polymerase I and transcript release factor
UniProt Synonym Protein Names
Cavin-1
UniProt Entry Name
PTRF_HUMAN
NCBI Summary for PTRF
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]
UniProt Comments for PTRF
PTRF: Plays an important role in caveolae formation and organization. Required for the sequestration of mobile caveolin into immobile caveolae. Termination of transcription by RNA polymerase I involves pausing of transcription by TTF1, and the dissociation of the transcription complex, releasing pre-rRNA and RNA polymerase I from the template. PTRF is required for dissociation of the ternary transcription complex. Defects in PTRF are the cause of congenital generalized lipodystrophy type 4 (CGL4). It is a disorder characterized by the association of congenital generalized lipodystrophy with muscular dystrophy and cardiac anomalies. Congenital generalized lipodystrophy is characterized by a near complete absence of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Belongs to the PTRF/SDPR family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription initiation complex
Chromosomal Location of Human Ortholog: 17q21.2
Cellular Component: nucleoplasm; protein complex; intracellular membrane-bound organelle; mitochondrion; endoplasmic reticulum; cytoplasm; plasma membrane; caveola; cytosol; nucleus
Molecular Function: protein binding; rRNA primary transcript binding
Biological Process: regulation of transcription, DNA-dependent; transcription from RNA polymerase I promoter; gene expression; termination of RNA polymerase I transcription; transcription initiation from RNA polymerase I promoter
Disease: Lipodystrophy, Congenital Generalized, Type 4
Research Articles on PTRF
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Products associated with anti-PTRF antibody
Pathways associated with anti-PTRF antibody
Diseases associated with anti-PTRF antibody
Organs/Tissues associated with anti-PTRF antibody
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