InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PTRF

Summary

InnateDB Protein

IDBP-50830.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PTRF

Protein Name

polymerase I and transcript release factor

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000349541

InnateDB Gene

IDBG-50828 (PTRF)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:18056712, ECO:0000269PubMed:18191225, ECO:0000269PubMed:19726876}.

Subcellular Localization

Membrane, caveola. Cell membrane {ECO:0000269PubMed:15242332, ECO:0000269PubMed:17026959}. Microsome {ECO:0000269PubMed:15242332, ECO:0000269PubMed:17026959}. Endoplasmic reticulum. Cytoplasm, cytosol. Mitochondrion {ECO:0000269PubMed:15242332, ECO:0000269PubMed:17026959}. Nucleus {ECO:0000269PubMed:15242332, ECO:0000269PubMed: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}.

Disease Associations

Congenital 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:0000269PubMed:19726876, ECO:0000269PubMed:20684003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 44 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	44 [view]
Protein-Protein	44 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0042134	rRNA primary transcript binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0006355	regulation of transcription, DNA-templated
GO:0006360	transcription from RNA polymerase I promoter
GO:0006361	transcription initiation from RNA polymerase I promoter
GO:0006363	termination of RNA polymerase I transcription
GO:0010467	gene expression

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0005901	caveola
GO:0043231	intracellular membrane-bounded organelle
GO:0043234	protein complex