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Q0ZLH3 (PJVK_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 68. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Pejvakin
Alternative name(s):
Autosomal recessive deafness type 59 protein
Gene names
Name:DFNB59
Synonyms:PJVK
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length352 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Essential in the activity of auditory pathway neurons.

Involvement in 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.3

Miscellaneous

'Pejvakin' means 'echo' in Persian.

Sequence similarities

Belongs to the gasdermin family.

Ontologies

Keywords
   Biological processHearing
   Coding sequence diversityPolymorphism
   DiseaseDeafness
Disease mutation
Non-syndromic deafness
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processsensory perception of sound

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentneuronal cell body

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 352352Pejvakin
PRO_0000249042

Natural variations

Natural variant541T → I in DFNB59. Ref.1
VAR_027387
Natural variant1831R → W in DFNB59. Ref.1
VAR_027388
Natural variant2651R → C.
Corresponds to variant rs17304212 [ dbSNP | Ensembl ].
VAR_053103
Natural variant3431C → S in DFNB59. Ref.3
VAR_068891

Sequences

Sequence LengthMass (Da)Tools
Q0ZLH3 [UniParc].

Last modified August 22, 2006. Version 1.
Checksum: 7DEBA07E73A3C92E

FASTA35239,913
        10         20         30         40         50         60 
MFAAATKSFV KQVGDGGRLV PVPSLSEADK YQPLSLVVKK KRCFLFPRYK FTSTPFTLKD 

        70         80         90        100        110        120 
ILLGDREISA GISSYQLLNY EDESDVSLYG RRGNHIVNDV GINVAGSDSI AVKASFGIVT 

       130        140        150        160        170        180 
KHEVEVSTLL KEITTRKINF DHSLIRQSRS SRKAVLCVVM ESIRTTRQCS LSVHAGIRGE 

       190        200        210        220        230        240 
AMRFHFMDEQ NPKGRDKAIV FPAHTTIAFS VFELFIYLDG AFDLCVTSVS KGGFEREETA 

       250        260        270        280        290        300 
TFALLYRLRN ILFERNRRVM DVISRSQLYL DDLFSDYYDK PLSMTDISLK EGTHIRVNLL 

       310        320        330        340        350 
NHNIPKGPCI LCGMGNFKRE TVYGCFQCSV DGQKYVRLHA VPCFDIWHKR MK 

« Hide

References

« Hide 'large scale' references
[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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
DQ365827 mRNA. Translation: ABC94894.1.
BC127902 mRNA. Translation: AAI27903.1.
BC146938 mRNA. Translation: AAI46939.1.
CCDSCCDS42787.1.
RefSeqNP_001036167.1. NM_001042702.3.
XP_006712617.1. XM_006712554.1.
UniGeneHs.87734.

3D structure databases

ProteinModelPortalQ0ZLH3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000364271.

PTM databases

PhosphoSiteQ0ZLH3.

Polymorphism databases

DMDM114152117.

Proteomic databases

PaxDbQ0ZLH3.
PRIDEQ0ZLH3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375129; ENSP00000364271; ENSG00000204311.
ENST00000409117; ENSP00000386647; ENSG00000204311.
GeneID494513.
KEGGhsa:494513.
UCSCuc002umi.4. human.

Organism-specific databases

CTD494513.
GeneCardsGC02P179316.
GeneReviewsDFNB59.
HGNCHGNC:29502. DFNB59.
HPAHPA042621.
MIM610219. gene.
610220. phenotype.
neXtProtNX_Q0ZLH3.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
PharmGKBPA134927047.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG133476.
HOGENOMHOG000231918.
HOVERGENHBG080486.
InParanoidQ0ZLH3.
OMASRKAVLC.
OrthoDBEOG7N63MV.
PhylomeDBQ0ZLH3.
TreeFamTF352821.

Gene expression databases

ArrayExpressQ0ZLH3.
BgeeQ0ZLH3.
CleanExHS_DFNB59.
GenevestigatorQ0ZLH3.

Family and domain databases

InterProIPR007677. Gasdermin.
[Graphical view]
PANTHERPTHR16399. PTHR16399. 1 hit.
PfamPF04598. Gasdermin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi494513.
NextBio111874.
PROQ0ZLH3.
SOURCESearch...

Entry information

Entry namePJVK_HUMAN
AccessionPrimary (citable) accession number: Q0ZLH3
Secondary accession number(s): A0PK14, B9EJE2
Entry history
Integrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: August 22, 2006
Last modified: July 9, 2014
This is version 68 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM