Cavin1 caveolae associated 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cavin1provided by MGI
Official Full Name: caveolae associated 1provided by MGI
Primary source: MGI:MGI:1277968
See related: Ensembl:ENSMUSG00000004044 AllianceGenome:MGI:1277968
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Ptrf; Cavin; Cav-p60; 2310075E07Rik
Summary: Enables rRNA primary transcript binding activity. Involved in DNA-templated transcription; positive regulation of cell motility; and protein secretion. Located in caveola; endoplasmic reticulum; and nucleus. Is expressed in several structures, including central nervous system; genitourinary system; head mesenchyme; and sensory organ. Used to study congenital generalized lipodystrophy type 4 and pulmonary hypertension. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Orthologous to human CAVIN1 (caveolae associated protein 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 99.6), bladder adult (RPKM 84.6) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 D; 11 63.95 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (100847562..100861443, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (100956736..100970617, complement)

Chromosome 11 - NC_000077.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Cavin-1/Caveolin-1 interaction attenuates BMP/Smad signaling in pulmonary hypertension by interfering with BMPR2/Caveolin-1 binding.
Title: The Cavin-1/Caveolin-1 interaction attenuates BMP/Smad signaling in pulmonary hypertension by interfering with BMPR2/Caveolin-1 binding.
Decoding the transcriptome of muscular dystrophy due to Ptrf deficiency using single-nucleus RNA sequencing.
Title: Decoding the transcriptome of muscular dystrophy due to Ptrf deficiency using single-nucleus RNA sequencing.
Polymerase I and transcript release factor transgenic mice show impaired function of hematopoietic stem cells.
Title: Polymerase I and transcript release factor transgenic mice show impaired function of hematopoietic stem cells.
Cavin1 intrinsically disordered domains are essential for fuzzy electrostatic interactions and caveola formation.
Title: Cavin1 intrinsically disordered domains are essential for fuzzy electrostatic interactions and caveola formation.
Cavin-1 is linked to lipid droplet formation in human hepatic stellate cells.
Title: Cavin-1 is linked to lipid droplet formation in human hepatic stellate cells.
Cavin-1 is acutely translocated to focal complex compartments upon insulin stimulation, where it regulates focal complex formation through an interaction with paxillin.
Title: Cavin-1/PTRF mediates insulin-dependent focal adhesion remodeling and ameliorates high-fat diet-induced inflammatory responses in mice.
the absence of PTRF/cavin-1 in mice caused a unique form of muscular dystrophy with a phenotype similar or identical to that seen in humans lacking this protein
Title: Muscular dystrophy in PTFR/cavin-1 null mice.
function of ptrf in obesity and fatty liver
Title: Ptrf transgenic mice exhibit obesity and fatty liver.
Data suggest that Ptrf is present in the bloodstream and associates with exosomes; visceral adipose tissue may be a source of plasma Ptrf; Ptrf is rapidly processed inside adipocytes and promotes glucose absorption in adipocytes.
Title: PTRF acts as an adipokine contributing to adipocyte dysfunctionality and ectopic lipid deposition.
The authors show here in mature adipocytes, ribosomal transcription can be acutely regulated in response to metabolic challenges. This acute response is mediated by PTRF (polymerase I transcription and release factor, also known as cavin-1), which has previously been shown to play a critical role in caveolae formation.
Title: PTRF/Cavin-1 promotes efficient ribosomal RNA transcription in response to metabolic challenges.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ptrf (e-PCR), detects polymorphism
- UniSTS:545868

AW546441 (e-PCR)
- UniSTS:180320

D11Mit250 (e-PCR), detects polymorphism
- UniSTS:141764

AA849865 (e-PCR)
- UniSTS:250344

NoName (e-PCR)
- UniSTS:493297

D11Mit250 (e-PCR), detects polymorphism
- UniSTS:126450

D11Mit250.1 (e-PCR), detects polymorphism
- UniSTS:126451

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
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
enables rRNA primary transcript binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in positive regulation of cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in rRNA transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in termination of RNA polymerase I transcription	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within termination of RNA polymerase I transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in termination of RNA polymerase I transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in termination of RNA polymerase I transcription	ISO Inferred from Sequence Orthology more info
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
involved_in transcription initiation at RNA polymerase I promoter	ISO Inferred from Sequence Orthology more info

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
located_in caveola	ISO Inferred from Sequence Orthology more info	PubMed
located_in caveola	ISS Inferred from Sequence or Structural Similarity more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in membrane raft	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: caveolae-associated protein 1

Names: cavin-1; 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.

mRNA and Protein(s)

NM_001359105.1 → NP_001346034.1 caveolae-associated protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate 3' terminal exon, resulting in novel 3' coding and 3' UTR regions, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK169463, BC110698

UniProtKB/TrEMBL

Q3U4N4

Conserved Domains (1) summary

pfam15237
Location:50 → 195

PTRF_SDPR; PTRF/SDPR family
NM_008986.2 → NP_033012.1 caveolae-associated protein 1 isoform 1

See identical proteins and their annotated locations for NP_033012.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AF036249, AL591466, BY132697

Consensus CDS

CCDS25442.1

UniProtKB/Swiss-Prot

O54724, Q2TAW6

Related

ENSMUSP00000058321.6, ENSMUST00000060792.6

Conserved Domains (1) summary

pfam15237
Location:50 → 322

PTRF_SDPR; PTRF/SDPR family