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Protein

Pejvakin

Gene

DFNB59

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

Functioni

Essential in the activity of auditory pathway neurons.

GO - Biological processi

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 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29502. DFNB59.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 59 (DFNB59)2 Publications

The disease is caused by mutations 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.

See also OMIM:610220
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.

Polymorphism and mutation databases

BioMutaiDFNB59.
DMDMi114152117.

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.
GenevisibleiQ0ZLH3. HS.

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.
OMAiTRQCSLT.
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:
EMBLi
GenBanki
DDBJi
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.
UniGeneiHs.87734.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS42787.1.
RefSeqiNP_001036167.1. NM_001042702.3.
UniGeneiHs.87734.

3D structure databases

ProteinModelPortaliQ0ZLH3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000364271.

PTM databases

PhosphoSiteiQ0ZLH3.

Polymorphism and mutation databases

BioMutaiDFNB59.
DMDMi114152117.

Proteomic databases

PaxDbiQ0ZLH3.
PRIDEiQ0ZLH3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi494513.
GeneCardsiGC02P179316.
GeneReviewsiDFNB59.
HGNCiHGNC:29502. DFNB59.
HPAiHPA042621.
MIMi610219. gene.
610220. phenotype.
neXtProtiNX_Q0ZLH3.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
PharmGKBiPA134927047.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii494513.
NextBioi111874.
PROiQ0ZLH3.
SOURCEiSearch...

Gene expression databases

BgeeiQ0ZLH3.
CleanExiHS_DFNB59.
ExpressionAtlasiQ0ZLH3. baseline and differential.
GenevisibleiQ0ZLH3. HS.

Family and domain databases

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

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: July 22, 2015
This is version 74 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.