Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 284119, updated on 27-Jun-2015
    Official Symbol
    PTRFprovided by HGNC
    Official Full Name
    polymerase I and transcript release factorprovided by HGNC
    Primary source
    HGNC:HGNC:9688
    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]
    Orthologs
    See PTRF in Epigenomics, MapViewer
    Location:
    17q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC102725238 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
    PubMed 
    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
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    Preferred Names
    polymerase I and transcript release factor
    Names
    polymerase I and transcript release factor
    PTRF
    RNA polymerase I and transcript release factor
    TTF-I interacting peptide 12

    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005257242.2XP_005257299.1  

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

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