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Q0ZLH3

- PJVK_HUMAN

UniProt

Q0ZLH3 - PJVK_HUMAN

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Protein

Pejvakin

Gene

DFNB59

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

Essential in the activity of auditory pathway neurons.

GO - Biological processi

  1. sensory perception of sound Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Hearing

Names & Taxonomyi

Protein namesi
Recommended name:
Pejvakin
Alternative name(s):
Autosomal recessive deafness type 59 protein
Gene namesi
Name:DFNB59
Synonyms:PJVK
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:29502. DFNB59.

Subcellular locationi

GO - Cellular componenti

  1. neuronal cell body Source: Ensembl
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541T → I in DFNB59. 1 Publication
VAR_027387
Natural varianti183 – 1831R → W in DFNB59. 1 Publication
VAR_027388
Natural varianti343 – 3431C → S in DFNB59. 1 Publication
VAR_068891

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

MIMi610220. phenotype.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134927047.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 352352PejvakinPRO_0000249042Add
BLAST

Proteomic databases

PaxDbiQ0ZLH3.
PRIDEiQ0ZLH3.

PTM databases

PhosphoSiteiQ0ZLH3.

Expressioni

Gene expression databases

BgeeiQ0ZLH3.
CleanExiHS_DFNB59.
ExpressionAtlasiQ0ZLH3. baseline and differential.
GenevestigatoriQ0ZLH3.

Organism-specific databases

HPAiHPA042621.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000364271.

Structurei

3D structure databases

ProteinModelPortaliQ0ZLH3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the gasdermin family.Curated

Phylogenomic databases

eggNOGiNOG133476.
GeneTreeiENSGT00530000063574.
HOGENOMiHOG000231918.
HOVERGENiHBG080486.
InParanoidiQ0ZLH3.
OMAiSRKAVLC.
OrthoDBiEOG7N63MV.
PhylomeDBiQ0ZLH3.
TreeFamiTF352821.

Family and domain databases

InterProiIPR007677. Gasdermin.
[Graphical view]
PANTHERiPTHR16399. PTHR16399. 1 hit.
PfamiPF04598. Gasdermin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q0ZLH3-1 [UniParc]FASTAAdd to Basket

« Hide

        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
Length:352
Mass (Da):39,913
Last modified:August 22, 2006 - v1
Checksum:i7DEBA07E73A3C92E
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti54 – 541T → I in DFNB59. 1 Publication
VAR_027387
Natural varianti183 – 1831R → W in DFNB59. 1 Publication
VAR_027388
Natural varianti265 – 2651R → C.
Corresponds to variant rs17304212 [ dbSNP | Ensembl ].
VAR_053103
Natural varianti343 – 3431C → S in DFNB59. 1 Publication
VAR_068891

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ365827 mRNA. Translation: ABC94894.1.
BC127902 mRNA. Translation: AAI27903.1.
BC146938 mRNA. Translation: AAI46939.1.
CCDSiCCDS42787.1.
RefSeqiNP_001036167.1. NM_001042702.3.
XP_006712617.1. XM_006712554.1.
UniGeneiHs.87734.

Genome annotation databases

EnsembliENST00000375129; ENSP00000364271; ENSG00000204311.
ENST00000409117; ENSP00000386647; ENSG00000204311.
GeneIDi494513.
KEGGihsa:494513.
UCSCiuc002umi.4. human.

Polymorphism databases

DMDMi114152117.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
XP_006712617.1. XM_006712554.1.
UniGenei Hs.87734.

3D structure databases

ProteinModelPortali Q0ZLH3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000364271.

PTM databases

PhosphoSitei Q0ZLH3.

Polymorphism databases

DMDMi 114152117.

Proteomic databases

PaxDbi Q0ZLH3.
PRIDEi Q0ZLH3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000375129 ; ENSP00000364271 ; ENSG00000204311 .
ENST00000409117 ; ENSP00000386647 ; ENSG00000204311 .
GeneIDi 494513.
KEGGi hsa:494513.
UCSCi uc002umi.4. human.

Organism-specific databases

CTDi 494513.
GeneCardsi GC02P179316.
GeneReviewsi DFNB59.
HGNCi HGNC:29502. DFNB59.
HPAi HPA042621.
MIMi 610219. gene.
610220. phenotype.
neXtProti NX_Q0ZLH3.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBi PA134927047.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG133476.
GeneTreei ENSGT00530000063574.
HOGENOMi HOG000231918.
HOVERGENi HBG080486.
InParanoidi Q0ZLH3.
OMAi SRKAVLC.
OrthoDBi EOG7N63MV.
PhylomeDBi Q0ZLH3.
TreeFami TF352821.

Miscellaneous databases

GenomeRNAii 494513.
NextBioi 111874.
PROi Q0ZLH3.
SOURCEi Search...

Gene expression databases

Bgeei Q0ZLH3.
CleanExi HS_DFNB59.
ExpressionAtlasi Q0ZLH3. baseline and differential.
Genevestigatori Q0ZLH3.

Family and domain databases

InterProi IPR007677. Gasdermin.
[Graphical view ]
PANTHERi PTHR16399. PTHR16399. 1 hit.
Pfami PF04598. Gasdermin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy."
    Delmaghani S., Del Castillo F.J., Michel V., Leibovici M., Aghaie A., Ron U., Van Laer L., Ben-Tal N., Van Camp G., Weil D., Langa F., Lathrop M., Avan P., Petit C.
    Nat. Genet. 38:770-778(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS DFNB59 ILE-54 AND TRP-183.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "A p.C343S missense mutation in PJVK causes progressive hearing loss."
    Mujtaba G., Bukhari I., Fatima A., Naz S.
    Gene 504:98-101(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT DFNB59 SER-343.

Entry informationi

Entry nameiPJVK_HUMAN
AccessioniPrimary (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: October 29, 2014
This is version 70 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Miscellaneous

'Pejvakin' means 'echo' in Persian.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3