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

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: mouse all
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Genomic context

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_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Regulation of cancer cell ferroptosis by PTRF/Cavin-1.
Title: Regulation of cancer cell ferroptosis by PTRF/Cavin-1.
Neovascularization directed by CAVIN1/CCBE1/VEGFC confers TMZ-resistance in glioblastoma.
Title: Neovascularization directed by CAVIN1/CCBE1/VEGFC confers TMZ-resistance in glioblastoma.
Cavin1 activates the Wnt/beta-catenin pathway to influence the proliferation and migration of hepatocellular carcinoma.
Title: Cavin1 activates the Wnt/β-catenin pathway to influence the proliferation and migration of hepatocellular carcinoma.
Molecular and clinical characterization of PTRF in glioma via 1,022 samples.
Title: Molecular and clinical characterization of PTRF in glioma via 1,022 samples.
PTRF/Cavin-1 as a Novel RNA-Binding Protein Expedites the NF-kappaB/PD-L1 Axis by Stabilizing lncRNA NEAT1, Contributing to Tumorigenesis and Immune Evasion in Glioblastoma.
Title: PTRF/Cavin-1 as a Novel RNA-Binding Protein Expedites the NF-κB/PD-L1 Axis by Stabilizing lncRNA NEAT1, Contributing to Tumorigenesis and Immune Evasion in Glioblastoma.
A role for caveola-forming proteins caveolin-1 and CAVIN1 in the pro-invasive response of glioblastoma to osmotic and hydrostatic pressure.
Title: A role for caveola-forming proteins caveolin-1 and CAVIN1 in the pro-invasive response of glioblastoma to osmotic and hydrostatic pressure.
Caveolin-1 and cavin1 act synergistically to generate a unique lipid environment in caveolae.
Title: Caveolin-1 and cavin1 act synergistically to generate a unique lipid environment in caveolae.
Stromal CAVIN1 Controls Prostate Cancer Microenvironment and Metastasis by Modulating Lipid Distribution and Inflammatory Signaling.
Title: Stromal CAVIN1 Controls Prostate Cancer Microenvironment and Metastasis by Modulating Lipid Distribution and Inflammatory Signaling.
Homotrimer cavin1 interacts with caveolin1 to facilitate tumor growth and activate microglia through extracellular vesicles in glioma.
Title: Homotrimer cavin1 interacts with caveolin1 to facilitate tumor growth and activate microglia through extracellular vesicles in glioma.
CAV1-CAVIN1-LC3B-mediated autophagy regulates high glucose-stimulated LDL transcytosis.
Title: CAV1-CAVIN1-LC3B-mediated autophagy regulates high glucose-stimulated LDL transcytosis.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital generalized lipodystrophy type 4 MedGen: C2750069 OMIM: 613327 GeneReviews: Berardinelli-Seip Congenital Lipodystrophy	not available

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W93348 (e-PCR)
- UniSTS:77909

SGC30365 (e-PCR)
- UniSTS:25434

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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
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
involved_in termination of RNA polymerase I transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation at RNA polymerase I promoter	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at 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
located_in caveola	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
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

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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

NG_015845.2 RefSeqGene

Range

5065..25872

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_012232.6 → NP_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:48 → 320

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

42402449..42423256 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (1) summary

pfam15237
Location:49 → 188

PTRF_SDPR; PTRF/SDPR family