Pjvk pejvakin [Mus musculus (house mouse)] - Gene

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 cell death; 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, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Studied role of pejvakin in preventing noise induced hearing loss by protecting auditory hair cells through mediating pexophagy, which plays a key role in noise-induced peroxisome proliferation; results suggest pejvakin acts as a redox-activated pexophagy receptor.
Title: Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage.
Results demonstrate that pejvakin is required to sustain outer hair cell activity and survival in a cell-autonomous manner and imply pejvakin defects in sensory hearing loss rather than auditory neuropathy spectrum disorder; show that pejvakin forms protein complexes with Rho effectors, including ROCK2.
Title: Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice.
Study describes a genetic form of noise-induced hearing loss , by showing that pejvakin deficiency in mice and DFNB59 patients leads to hypervulnerability to sound, due to a peroxisomal deficiency.
Title: Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.
The pejvakin allele described here introduces a premature stop codon, causes outer hair cell defects, and leads to progressive hearing loss.
Title: A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function.

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Variation

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Alleles

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

Targeted (4) 1 citation
Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (6) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pexophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in programmed cell death in response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of peroxisome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to reactive oxygen species	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within stereocilium maintenance	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
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
located_in membrane	IEA Inferred from Electronic Annotation 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 peroxisome	IEA Inferred from Electronic Annotation more info
located_in stereocilium base	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pejvakin

Names: autosomal recessive deafness type 59 protein homolog; deafness, autosomal recessive 59; protein sirtaki

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.