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

Gene ID: 284119, updated on 5-Aug-2018

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; 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; 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

Genomic context

See CAVIN1 in Genome Data Viewer
Location:
17q21.2
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

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
RNA binding HDA PubMed 
identical protein binding IPI
Inferred from Physical Interaction
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 
Process Evidence Code Pubs
positive regulation of cell motility ISS
Inferred from Sequence or Structural Similarity
more info
 
rRNA transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
termination of RNA polymerase I transcription IDA
Inferred from Direct Assay
more info
PubMed 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
caveola IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
caveola IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
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-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)

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  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, OTTHUMP00000263437, ENST00000357037.5, OTTHUMT00000449938
    Conserved Domains (1) summary
    pfam15237
    Location:49320
    PTRF_SDPR; PTRF/SDPR family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    42402449..42423320 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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