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

Gene ID: 19285, updated on 1-Mar-2024

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 positive regulation of cell motility; protein secretion; and transcription, DNA-templated. Acts upstream of or within termination of RNA polymerase I transcription. Located in caveola; endoplasmic reticulum; and nucleus. Is expressed in several structures, including genitourinary system 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, Apr 2022]
Expression
Broad expression in subcutaneous fat pad adult (RPKM 99.6), bladder adult (RPKM 84.6) and 18 other tissues See more
Orthologs
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Genomic context

See Cavin1 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene signal transducer and activator of transcription 5A Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:100753050-100753254 Neighboring gene STARR-positive B cell enhancer ABC_E8455 Neighboring gene signal transducer and activator of transcription 3 Neighboring gene STARR-positive B cell enhancer ABC_E5279 Neighboring gene STARR-seq mESC enhancer starr_30745 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:100800942-100801125 Neighboring gene predicted gene, 46295 Neighboring gene STARR-seq mESC enhancer starr_30746 Neighboring gene STARR-seq mESC enhancer starr_30750 Neighboring gene STARR-positive B cell enhancer ABC_E7064 Neighboring gene STARR-seq mESC enhancer starr_30751 Neighboring gene STARR-seq mESC enhancer starr_30752 Neighboring gene STARR-positive B cell enhancer ABC_E3023 Neighboring gene STARR-seq mESC enhancer starr_30753 Neighboring gene ATPase, H+ transporting, lysosomal V0 subunit A1 Neighboring gene microRNA 6928 Neighboring gene STARR-positive B cell enhancer ABC_E10714 Neighboring gene STARR-positive B cell enhancer ABC_E8456 Neighboring gene alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC118550

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables RNA 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 binding IEA
Inferred from Electronic Annotation
more info
 
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
 
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 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 IEA
Inferred from Electronic Annotation
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

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)

  1. NM_001359105.1NP_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:50195
    PTRF_SDPR; PTRF/SDPR family
  2. NM_008986.2NP_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:50322
    PTRF_SDPR; PTRF/SDPR family

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    100847562..100861443 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_027160.1: Suppressed sequence

    Description
    NM_027160.1: This RefSeq was removed because it is primarily UTR sequence.