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

Gene ID: 284119, updated on 10-Dec-2024

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; AllianceGenome:HGNC:9688
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (42402449..42423256, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (43259715..43280533, complement)
RS_2024_09 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 H3K4me1 hESC enhancer GRCh37_chr17:40439573-40440073 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8520 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12194 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8522 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8523 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8524 Neighboring gene signal transducer and activator of transcription 5A Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:40480835-40481564 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:40481565-40482295 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12196 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8525 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8526 Neighboring gene signal transducer and activator of transcription 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12200 Neighboring gene uncharacterized LOC102725238 Neighboring gene RNA, U7 small nuclear 97 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8529 Neighboring gene ATPase H+ transporting V0 subunit a1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8530 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

EBI GWAS Catalog

Description
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
EBI GWAS Catalog

Pathways from PubChem

Interactions

General gene information

Clone Names

  • FLJ90031

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in caveola  
located_in caveola PubMed 
is_active_in cytoplasm  
located_in cytoplasm PubMed 
located_in cytosol  
located_in endoplasmic reticulum  
located_in intracellular membrane-bounded organelle  
located_in membrane raft PubMed 
located_in mitochondrion PubMed 
located_in nucleoplasm  
located_in nucleus PubMed 
located_in plasma membrane  
part_of protein-containing complex 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
    B2RAW7, O00535, Q6GMY1, Q6NZI2, Q96H74, Q9BT85, Q9HAP4
    UniProtKB/TrEMBL
    B4DNU9
    Related
    ENSP00000349541.4, ENST00000357037.6
    Conserved Domains (1) summary
    pfam15237
    Location:48320
    PTRF_SDPR; PTRF/SDPR family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    42402449..42423256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005257242.5XP_005257299.1  caveolae-associated protein 1 isoform X1

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    43259715..43280533 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315796.1XP_054171771.1  caveolae-associated protein 1 isoform X1

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