PJVK

Protein identityUniProt · HPA

UniProt accession

Q0ZLH3

Gene

PJVK

Ensembl

ENSG00000204311

Chromosome

2

Canonical length

352 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

Canonical amino-acid sequenceUniProt

352 residues, UniProt reviewed canonical sequence.

>Q0ZLH3|PJVK
     1  MFAAATKSFV KQVGDGGRLV PVPSLSEADK YQPLSLVVKK KRCFLFPRYK FTSTPFTLKD
    61  ILLGDREISA GISSYQLLNY EDESDVSLYG RRGNHIVNDV GINVAGSDSI AVKASFGIVT
   121  KHEVEVSTLL KEITTRKINF DHSLIRQSRS SRKAVLCVVM ESIRTTRQCS LSVHAGIRGE
   181  AMRFHFMDEQ NPKGRDKAIV FPAHTTIAFS VFELFIYLDG AFDLCVTSVS KGGFEREETA
   241  TFALLYRLRN ILFERNRRVM DVISRSQLYL DDLFSDYYDK PLSMTDISLK EGTHIRVNLL
   301  NHNIPKGPCI LCGMGNFKRE TVYGCFQCSV DGQKYVRLHA VPCFDIWHKR MK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PJVK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.37

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PJVK.

Disease | AllUniProt

Conditions PJVK is implicated in, by any mechanism.

• Deafness, autosomal recessive, 59 (DFNB59) MIM:610220

Disease | GeneticClinVar

46 pathogenic / likely-pathogenic of 297 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 59
• Deafness
• Hearing loss, autosomal recessive
• PJVK-related disorder
• Ear malformation

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

DepMap mean gene effect

0.04

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• detection of mechanical stimulus involved in sensory perception of sound
• pexophagy
• regulation of peroxisome organization
• response to reactive oxygen species
• sensory perception of sound
• stereocilium maintenance
• programmed cell death in response to reactive oxygen species

Cellular components

• ciliary rootlet
• cortical actin cytoskeleton
• cytoplasm
• neuronal cell body
• peroxisomal membrane
• stereocilium base

Protein domainsUniProt · Pfam · InterPro

• Gasdermin, pore forming domain
• Gasdermin-E
• Gasdermin pore forming domain

KeywordsUniProt

• Cell projection
• Deafness
• Hearing
• Membrane
• Non-syndromic deafness
• Peroxisome

InteractionsUniProt · HPA

Protein binding partners of PJVK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• IQGAP1
• MAP1LC3B
• ROCK2
• TRIOBP