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MGP006939

UniProt Annotations

Entry Information
Gene Namepolymerase I and transcript release factor
Protein EntryPTRF_HUMAN
UniProt IDQ6NZI2
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1 {ECO:0000305}; IsoId=Q6NZI2-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q6NZI2-2; Sequence=VSP_051625; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000305}; IsoId=Q6NZI2-3; Sequence=VSP_051624; Note=No experimental confirmation available. {ECO:0000305};
DiseaseCongenital generalized lipodystrophy 4 (CGL4) [MIM:613327]: 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. {ECO:0000269|PubMed:19726876, ECO:0000269|PubMed:20684003}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays 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. {ECO:0000269|PubMed:18056712, ECO:0000269|PubMed:18191225, ECO:0000269|PubMed:19726876}.
PtmFive truncated forms are found in the caveolae. These are thought to be the result of proteolysis and may be phosphorylation-dependent. {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:21406692}.
PtmPhosphorylated. Present in active and inactive forms. Changes in phosphorylation pattern may alter activity (By similarity). {ECO:0000250|UniProtKB:O54724}.
SimilarityBelongs to the PTRF/SDPR family. {ECO:0000305}.
Subcellular LocationMembrane, caveola. Cell membrane {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Microsome {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Endoplasmic reticulum. Cytoplasm, cytosol. Mitochondrion {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Nucleus {ECO:0000269|PubMed:15242332, ECO:0000269|PubMed:17026959}. Note=Found at the surface of the caveolae. Also found in the plasma membrane, microsomal and cytosolic fractions and at a low level in the mitochondrial and nuclear fractions. Translocates to the cytoplasm from the caveolae upon insulin stimulation. CAV1 is necessary to recruit it to the cell membrane (By similarity). Co- localizes with CAV1 in lipid rafts in adipocytes. {ECO:0000250}.
SubunitInteracts with RNA polymerase I and TTF1. Binds the 3' end of pre-rRNA. Interacts with transcription factor ZNF148 (By similarity). Interacts with LIPE in the adipocyte cytoplasm. {ECO:0000250|UniProtKB:O54724, ECO:0000269|PubMed:17026959}.
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