UniProtKB - Q0ZLH3 (PJVK_HUMAN)
Protein
Pejvakin
Gene
PJVK
Organism
Homo sapiens (Human)
Status
Functioni
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.By similarity
Miscellaneous
'Pejvakin' means 'echo' in Persian.1 Publication
GO - Biological processi
- detection of mechanical stimulus involved in sensory perception of sound Source: Ensembl
- pexophagy Source: UniProtKB
- programmed cell death in response to reactive oxygen species Source: UniProtKB
- regulation of peroxisome organization Source: UniProtKB
- response to reactive oxygen species Source: UniProtKB
- sensory perception of sound Source: UniProtKB
- stereocilium maintenance Source: Ensembl
Keywordsi
Biological process | Hearing |
Enzyme and pathway databases
PathwayCommonsi | Q0ZLH3 |
Protein family/group databases
TCDBi | 1.C.123.1.7, the pore-forming gasdermin (gasdermin) family |
Names & Taxonomyi
Protein namesi | Recommended name: Pejvakin1 PublicationAlternative name(s): Autosomal recessive deafness type 59 protein |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29502, PJVK |
MIMi | 610219, gene |
neXtProti | NX_Q0ZLH3 |
VEuPathDBi | HostDB:ENSG00000204311.12 |
Subcellular locationi
Peroxisome
- Peroxisome membrane By similarity
Other locations
- cilium By similarity
Note: Associates with the peroxisomal membrane; it is unclear whether it is embedded or just associated with the peroxisomal membrane. Localizes to ciliary rootlet.By similarity
Cytoskeleton
- ciliary rootlet Source: Ensembl
- cortical actin cytoskeleton Source: Ensembl
Peroxisome
- peroxisomal membrane Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
- neuronal cell body Source: GO_Central
- stereocilium base Source: Ensembl
Keywords - Cellular componenti
Cell projection, Membrane, PeroxisomePathology & Biotechi
Involvement in diseasei
Deafness, autosomal recessive, 59 (DFNB59)7 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027387 | 54 | T → I in DFNB59; causes hypervulnerability to sound. 2 PublicationsCorresponds to variant dbSNP:rs118203988EnsemblClinVar. | 1 | |
Natural variantiVAR_083912 | 167 – 352 | Missing in DFNB59. 1 PublicationAdd BLAST | 186 | |
Natural variantiVAR_027388 | 183 | R → W in DFNB59. 2 PublicationsCorresponds to variant dbSNP:rs111706634EnsemblClinVar. | 1 | |
Natural variantiVAR_083913 | 244 | L → R in DFNB59; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_068891 | 343 | C → S in DFNB59. 1 PublicationCorresponds to variant dbSNP:rs569088856Ensembl. | 1 |
Keywords - Diseasei
Deafness, Disease variant, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 494513 |
GeneReviewsi | PJVK |
MalaCardsi | PJVK |
MIMi | 610220, phenotype |
OpenTargetsi | ENSG00000204311 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134927047 |
Miscellaneous databases
Pharosi | Q0ZLH3, Tbio |
Genetic variation databases
BioMutai | PJVK |
DMDMi | 114152117 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000249042 | 1 – 352 | PejvakinAdd BLAST | 352 |
Proteomic databases
EPDi | Q0ZLH3 |
PaxDbi | Q0ZLH3 |
PeptideAtlasi | Q0ZLH3 |
PRIDEi | Q0ZLH3 |
ProteomicsDBi | 58852 |
PTM databases
iPTMneti | Q0ZLH3 |
PhosphoSitePlusi | Q0ZLH3 |
Expressioni
Gene expression databases
Bgeei | ENSG00000204311, Expressed in sperm and 146 other tissues |
ExpressionAtlasi | Q0ZLH3, baseline and differential |
Genevisiblei | Q0ZLH3, HS |
Organism-specific databases
HPAi | ENSG00000204311, Tissue enriched (testis) |
Interactioni
Subunit structurei
Interacts with MAP1LC3B; interaction is direct.
Interacts with IQGAP1.
Interacts with ROCK2.
Interacts with TRIOBP.
By similarityProtein-protein interaction databases
BioGRIDi | 138969, 1 interactor |
STRINGi | 9606.ENSP00000386647 |
Miscellaneous databases
RNActi | Q0ZLH3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the gasdermin family.Curated
Phylogenomic databases
eggNOGi | ENOG502QWBQ, Eukaryota |
GeneTreei | ENSGT00950000183140 |
HOGENOMi | CLU_068267_0_0_1 |
InParanoidi | Q0ZLH3 |
OMAi | FQIDDGR |
OrthoDBi | 1397132at2759 |
PhylomeDBi | Q0ZLH3 |
TreeFami | TF352821 |
Family and domain databases
InterProi | View protein in InterPro IPR007677, Gasdermin IPR040460, Gasdermin_pore |
PANTHERi | PTHR16399, PTHR16399, 1 hit |
Pfami | View protein in Pfam PF04598, Gasdermin, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All
Q0ZLH3-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MFAAATKSFV KQVGDGGRLV PVPSLSEADK YQPLSLVVKK KRCFLFPRYK
60 70 80 90 100
FTSTPFTLKD ILLGDREISA GISSYQLLNY EDESDVSLYG RRGNHIVNDV
110 120 130 140 150
GINVAGSDSI AVKASFGIVT KHEVEVSTLL KEITTRKINF DHSLIRQSRS
160 170 180 190 200
SRKAVLCVVM ESIRTTRQCS LSVHAGIRGE AMRFHFMDEQ NPKGRDKAIV
210 220 230 240 250
FPAHTTIAFS VFELFIYLDG AFDLCVTSVS KGGFEREETA TFALLYRLRN
260 270 280 290 300
ILFERNRRVM DVISRSQLYL DDLFSDYYDK PLSMTDISLK EGTHIRVNLL
310 320 330 340 350
NHNIPKGPCI LCGMGNFKRE TVYGCFQCSV DGQKYVRLHA VPCFDIWHKR
MK
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A2R8Y7D2 | A0A2R8Y7D2_HUMAN | Pejvakin | PJVK | 56 | Annotation score: | ||
A0PK15 | A0PK15_HUMAN | DFNB59 protein | PJVK DFNB59, hCG_2043344 | 193 | Annotation score: | ||
H7C3A9 | H7C3A9_HUMAN | Pejvakin | PJVK | 156 | Annotation score: | ||
H7C1C3 | H7C1C3_HUMAN | Pejvakin | PJVK | 105 | Annotation score: | ||
A0A2R8Y564 | A0A2R8Y564_HUMAN | Pejvakin | PJVK | 300 | Annotation score: | ||
A0A2R8YD96 | A0A2R8YD96_HUMAN | Pejvakin | PJVK | 29 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_027387 | 54 | T → I in DFNB59; causes hypervulnerability to sound. 2 PublicationsCorresponds to variant dbSNP:rs118203988EnsemblClinVar. | 1 | |
Natural variantiVAR_083912 | 167 – 352 | Missing in DFNB59. 1 PublicationAdd BLAST | 186 | |
Natural variantiVAR_027388 | 183 | R → W in DFNB59. 2 PublicationsCorresponds to variant dbSNP:rs111706634EnsemblClinVar. | 1 | |
Natural variantiVAR_083913 | 244 | L → R in DFNB59; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_053103 | 265 | R → C. Corresponds to variant dbSNP:rs17304212EnsemblClinVar. | 1 | |
Natural variantiVAR_083914 | 299 | L → R1 Publication | 1 | |
Natural variantiVAR_068891 | 343 | C → S in DFNB59. 1 PublicationCorresponds to variant dbSNP:rs569088856Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ365827 mRNA Translation: ABC94894.1 BC127902 mRNA Translation: AAI27903.1 BC146938 mRNA Translation: AAI46939.1 |
CCDSi | CCDS42787.1 |
RefSeqi | NP_001036167.1, NM_001042702.3 |
Genome annotation databases
Ensembli | ENST00000375129; ENSP00000364271; ENSG00000204311 ENST00000644580; ENSP00000495855; ENSG00000204311 |
GeneIDi | 494513 |
KEGGi | hsa:494513 |
UCSCi | uc002umi.5, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | DQ365827 mRNA Translation: ABC94894.1 BC127902 mRNA Translation: AAI27903.1 BC146938 mRNA Translation: AAI46939.1 |
CCDSi | CCDS42787.1 |
RefSeqi | NP_001036167.1, NM_001042702.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 138969, 1 interactor |
STRINGi | 9606.ENSP00000386647 |
Protein family/group databases
TCDBi | 1.C.123.1.7, the pore-forming gasdermin (gasdermin) family |
PTM databases
iPTMneti | Q0ZLH3 |
PhosphoSitePlusi | Q0ZLH3 |
Genetic variation databases
BioMutai | PJVK |
DMDMi | 114152117 |
Proteomic databases
EPDi | Q0ZLH3 |
PaxDbi | Q0ZLH3 |
PeptideAtlasi | Q0ZLH3 |
PRIDEi | Q0ZLH3 |
ProteomicsDBi | 58852 |
Protocols and materials databases
Antibodypediai | 33935, 62 antibodies |
Genome annotation databases
Ensembli | ENST00000375129; ENSP00000364271; ENSG00000204311 ENST00000644580; ENSP00000495855; ENSG00000204311 |
GeneIDi | 494513 |
KEGGi | hsa:494513 |
UCSCi | uc002umi.5, human |
Organism-specific databases
CTDi | 494513 |
DisGeNETi | 494513 |
GeneCardsi | PJVK |
GeneReviewsi | PJVK |
HGNCi | HGNC:29502, PJVK |
HPAi | ENSG00000204311, Tissue enriched (testis) |
MalaCardsi | PJVK |
MIMi | 610219, gene 610220, phenotype |
neXtProti | NX_Q0ZLH3 |
OpenTargetsi | ENSG00000204311 |
Orphaneti | 90636, Autosomal recessive non-syndromic sensorineural deafness type DFNB |
PharmGKBi | PA134927047 |
VEuPathDBi | HostDB:ENSG00000204311.12 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QWBQ, Eukaryota |
GeneTreei | ENSGT00950000183140 |
HOGENOMi | CLU_068267_0_0_1 |
InParanoidi | Q0ZLH3 |
OMAi | FQIDDGR |
OrthoDBi | 1397132at2759 |
PhylomeDBi | Q0ZLH3 |
TreeFami | TF352821 |
Enzyme and pathway databases
PathwayCommonsi | Q0ZLH3 |
Miscellaneous databases
BioGRID-ORCSi | 494513, 1 hit in 979 CRISPR screens |
ChiTaRSi | DFNB59, human |
GenomeRNAii | 494513 |
Pharosi | Q0ZLH3, Tbio |
PROi | PR:Q0ZLH3 |
RNActi | Q0ZLH3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204311, Expressed in sperm and 146 other tissues |
ExpressionAtlasi | Q0ZLH3, baseline and differential |
Genevisiblei | Q0ZLH3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007677, Gasdermin IPR040460, Gasdermin_pore |
PANTHERi | PTHR16399, PTHR16399, 1 hit |
Pfami | View protein in Pfam PF04598, Gasdermin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | PJVK_HUMAN | |
Accessioni | Q0ZLH3Primary (citable) accession number: Q0ZLH3 Secondary accession number(s): A0PK14, B9EJE2 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 5, 2006 |
Last sequence update: | August 22, 2006 | |
Last modified: | April 7, 2021 | |
This is version 114 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families