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PTRF polymerase I and transcript release factor [ Homo sapiens (human) ]

Gene ID: 284119, updated on 23-Sep-2014
Official Symbol
PTRFprovided by HGNC
Official Full Name
polymerase I and transcript release factorprovided by HGNC
Primary source
HGNC:HGNC:9688
Locus tag
FKSG13
See related
Ensembl:ENSG00000177469; HPRD:04433; MIM:603198; Vega:OTTHUMG00000180137
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; CAVIN; CAVIN1; 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]
See PTRF in Epigenomics, MapViewer
Location:
17q21.2
Exon count:
3
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 17 NC_000017.11 (42402449..42423320, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40554467..40575506, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 5A Neighboring gene signal transducer and activator of transcription 3 (acute-phase response factor) Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit a1 Neighboring gene microRNA 548at Neighboring gene microRNA 5010

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Lipodystrophy, congenital generalized, type 4
MedGen: C2750069 OMIM: 613327 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ90031

Gene Ontology Provided by GOA

Function Evidence Code Pubs
poly(A) RNA binding IDA
Inferred from Direct Assay
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
rRNA primary transcript binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 
protein complex IDA
Inferred from Direct Assay
more info
 
Preferred Names
polymerase I and transcript release factor
Names
polymerase I and transcript release factor
TTF-I interacting peptide 12
RNA polymerase I and transcript release factor

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015845.1 

    Range
    5001..25872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012232.5NP_036364.2  polymerase I and transcript release factor

    See proteins identical to NP_036364.2

    Status: REVIEWED

    Source sequence(s)
    AC107993, AF312393, AL050224, BC008849
    Consensus CDS
    CCDS11425.1
    UniProtKB/Swiss-Prot
    Q6NZI2
    Related
    ENSP00000349541, OTTHUMP00000263437, ENST00000357037, OTTHUMT00000449938
    Conserved Domains (1) summary
    pfam15237
    Location:48321
    PTRF_SDPR; PTRF/SDPR family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000017.11 

    Range
    42402449..42423320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257242.1XP_005257299.1  

    Conserved Domains (1) summary
    pfam15237
    Location:48198
    PTRF_SDPR; PTRF/SDPR family

Alternate HuRef

Genomic

  1. AC_000149.1 

    Range
    36319636..36340510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018928.2 

    Range
    40790357..40811225
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)