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    CAVIN1 caveolae associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 284119, updated on 8-Jul-2021

    Summary

    Official Symbol
    CAVIN1provided by HGNC
    Official Full Name
    caveolae associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:9688
    See related
    Ensembl:ENSG00000177469 MIM:603198
    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; PTRF; CAVIN; 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]
    Expression
    Broad expression in fat (RPKM 182.5), lung (RPKM 83.2) and 21 other tissues See more
    Orthologs
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    Genomic context

    See CAVIN1 in Genome Data Viewer
    Location:
    17q21.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (42402449..42423269, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (40554467..40575274, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 5B Neighboring gene signal transducer and activator of transcription 5A Neighboring gene signal transducer and activator of transcription 3 Neighboring gene uncharacterized LOC102725238 Neighboring gene RNA, U7 small nuclear 97 pseudogene Neighboring gene ATPase H+ transporting V0 subunit a1 Neighboring gene microRNA 548at

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    GeneReviews: Not available
    Lipodystrophy, congenital generalized, type 4
    MedGen: C2750069 OMIM: 613327 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ90031

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables rRNA primary transcript binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables rRNA primary transcript binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of cell motility ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in rRNA transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in termination of RNA polymerase I transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in termination of RNA polymerase I transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription initiation from RNA polymerase I promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in transcription initiation from RNA polymerase I promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in caveola IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in caveola IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    caveolae-associated protein 1
    Names
    RNA polymerase I and transcript release factor
    TTF-I interacting peptide 12
    congenital generalized lipodystrophy 4
    polymerase I and transcript release factor

    NCBI Reference Sequences (RefSeq)

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    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_015845.2 RefSeqGene

      Range
      5065..25872
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012232.6NP_036364.2  caveolae-associated protein 1

      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
      ENSP00000349541.4, ENST00000357037.6
      Conserved Domains (1) summary
      pfam15237
      Location:48320
      PTRF_SDPR; PTRF/SDPR family

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      42402449..42423269 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005257242.4XP_005257299.1  caveolae-associated protein 1 isoform X1

      Conserved Domains (1) summary
      pfam15237
      Location:49188
      PTRF_SDPR; PTRF/SDPR family
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