Entity Details

Primary name PJVK_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ0ZLH3
EntryNamePJVK_HUMAN
FullNamePejvakin
TaxID9606
Evidenceevidence at protein level
Length352
SequenceStatuscomplete
DateCreated2006-09-05
DateModified2021-06-02

Ontological Relatives

GenesPJVK

GO terms

Show/Hide Table
GOName
GO:0000302 response to reactive oxygen species
GO:0000425 pexophagy
GO:0005737 cytoplasm
GO:0005778 peroxisomal membrane
GO:0007605 sensory perception of sound
GO:0030864 cortical actin cytoskeleton
GO:0035253 ciliary rootlet
GO:0043025 neuronal cell body
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0097468 programmed cell death in response to reactive oxygen species
GO:0120044 stereocilium base
GO:0120045 stereocilium maintenance
GO:1900063 regulation of peroxisome organization

Subcellular Location

Show/Hide Table
Subcellular Location
Cell projection
Peroxisome membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR007677 GasderminFamilyFamily
IPR040460 Gasdermin, pore forming domainDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
610220 OMIMDeafness, autosomal recessive, 59 (DFNB59)A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

InteractorPartnerSourcesPublicationsLink