PJVK
entrez
494513
canonical
uniprot
Q0ZLH3
canonical
ensembl
ENSG00000204311
resolver
ensp
ENSP00000364271
resolver
ensp
ENSP00000494225
resolver
ensp
ENSP00000495731
resolver
ensp
ENSP00000495855
resolver
ensp
ENSP00000496024
resolver
ensp
ENSP00000496267
resolver
ensp
ENSP00000640552
resolver
ensp
ENSP00000640553
resolver
enst
ENST00000375129
resolver
enst
ENST00000642192
resolver
enst
ENST00000642492
resolver
enst
ENST00000644580
resolver
enst
ENST00000645817
resolver
enst
ENST00000647226
resolver
enst
ENST00000970493
resolver
enst
ENST00000970494
resolver
genesymbol
DFNB59
resolver
genesymbol
PJVK
resolver
genesymbol_syn
DFNB59
resolver
hgnc
HGNC:29502
resolver
uniprot
A0A2R8YF91
resolver
uniprot
A0PK14
resolver
uniprot
A0PK15
resolver
uniprot
B9EJE2
resolver
uniprot_entry
A0A2R8YF91_HUMAN
resolver
uniprot_entry
A0PK15_HUMAN
resolver
uniprot_entry
PJVK_HUMAN
resolver
uniprot_sec
A0PK14
resolver
uniprot_sec
B9EJE2
resolver
amino_acid_sequence
MFAAATKSFVKQVGDGGRLVPVPSLSEADKYQPLSLVVKKKRCFLFPRYKFTSTPFTLKDILLGDREISAGISSYQLLNYEDESDVSLYGRRGNHIVNDVGINVAGSDSIAVKASFGIVTKHEVEVSTLLKEITTRKINFDHSLIRQSRSSRKAVLCVVMESIRTTRQCSLSVHAGIRGEAMRFHFMDEQNPKGRDKAIVFPAHTTIAFSVFELFIYLDGAFDLCVTSVSKGGFEREETATFALLYRLRNILFERNRRVMDVISRSQLYLDDLFSDYYDKPLSMTDISLKEGTHIRVNLLNHNIPKGPCILCGMGNFKRETVYGCFQCSVDGQKYVRLHAVPCFDIWHKRMK
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 59 (DFNB59) [MIM:610220]: 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. {ECO:0000269|PubMed:16804542, ECO:0000269|PubMed:17301963, ECO:0000269|PubMed:17329413, ECO:0000269|PubMed:17373699, ECO:0000269|PubMed:17718865, ECO:0000269|PubMed:22617256, ECO:0000269|PubMed:25631766, ECO:0000269|PubMed:26544938, ECO:0000269|PubMed:35052489}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Peroxisome-associated protein required to protect auditory hair cells against noise-induced damage. Acts by regulating noise-induced peroxisome proliferation in auditory hair cells and neurons, and promoting autophagic degradation of damaged peroxisomes (pexophagy). Noise overexposure increases reactive oxygen species (ROS) levels, causing oxidative damage to auditory hair cells and resulting in hearing loss. PJVK acts as a ROS sensor that recruits the autophagy machinery to trigger pexophagy of peroxisomes damaged by oxidative stress. In addition to pexophagy, also required to promote peroxisome proliferation in response to sound overstimulation. {ECO:0000250|UniProtKB:Q0ZLH2}.
uniprot
proteins
mass_dalton
39913
uniprot
proteins
protein_family
Gasdermin family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16804542
uniprot
proteins
pubmed
17301963
uniprot
proteins
pubmed
17329413
uniprot
proteins
pubmed
17373699
uniprot
proteins
pubmed
17718865
uniprot
proteins
pubmed
22617256
uniprot
proteins
pubmed
25631766
uniprot
proteins
pubmed
26544938
uniprot
proteins
pubmed
35052489
uniprot
proteins
sequence_length
352
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000250|UniProtKB:Q0ZLH2}. Cell projection, cilium {ECO:0000250|UniProtKB:Q0ZLH2}. Note=Associates with the peroxisomal membrane; it is unclear whether it is embedded or just associated with the peroxisomal membrane. Localizes to ciliary rootlet. {ECO:0000250|UniProtKB:Q0ZLH2}.
uniprot
proteins