U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Pjvk pejvakin [ Mus musculus (house mouse) ]

Gene ID: 381375, updated on 9-Dec-2024

Summary

Official Symbol
Pjvkprovided by MGI
Official Full Name
pejvakinprovided by MGI
Primary source
MGI:MGI:2685847
See related
Ensembl:ENSMUSG00000075267 AllianceGenome:MGI:2685847
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
Dfnb59; Gm1001
Summary
Involved in several processes, including pexophagy; programmed cell death in response to reactive oxygen species; and regulation of peroxisome organization. Acts upstream of or within detection of mechanical stimulus involved in sensory perception of sound and stereocilium maintenance. Located in several cellular components, including cytoskeleton; peroxisomal membrane; and stereocilium base. Used to study autosomal recessive nonsyndromic deafness 59. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 59. Orthologous to human PJVK (pejvakin). [provided by Alliance of Genome Resources, Dec 2024]
Expression
Low expression observed in reference dataset See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Pjvk in Genome Data Viewer
Location:
2 C3; 2 45.08 cM
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (76480617..76488898)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (76650273..76658554)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein-like 6 Neighboring gene STARR-seq mESC enhancer starr_04893 Neighboring gene protein kinase, interferon inducible double stranded RNA dependent activator Neighboring gene STARR-positive B cell enhancer ABC_E2624 Neighboring gene STARR-positive B cell enhancer ABC_E11139 Neighboring gene FK506 binding protein 7 Neighboring gene pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3 Neighboring gene predicted gene, 39860

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

Variation

Alleles

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

General gene information

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in ciliary rootlet IDA
Inferred from Direct Assay
more info
PubMed 
located_in cortical actin cytoskeleton 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 cytoplasm ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium base IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pejvakin
Names
autosomal recessive deafness type 59 protein homolog
deafness, autosomal recessive 59
protein sirtaki

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001080711.2NP_001074180.1  pejvakin

    See identical proteins and their annotated locations for NP_001074180.1

    Status: VALIDATED

    Source sequence(s)
    BX635497, DQ365828
    Consensus CDS
    CCDS38153.1
    UniProtKB/Swiss-Prot
    Q0ZLH2
    Related
    ENSMUSP00000097566.3, ENSMUST00000099986.3
    Conserved Domains (1) summary
    pfam04598
    Location:1236
    Gasdermin; Gasdermin 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_000068.8 Reference GRCm39 C57BL/6J

    Range
    76480617..76488898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017319070.1XP_017174559.1  pejvakin isoform X1

    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family