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Q0ZLH3

- PJVK_HUMAN

UniProt

Q0ZLH3 - PJVK_HUMAN

Protein

Pejvakin

Gene

DFNB59

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 69 (01 Oct 2014)
      Sequence version 1 (22 Aug 2006)
      Previous versions | rss
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    Functioni

    Essential in the activity of auditory pathway neurons.

    GO - Biological processi

    1. sensory perception of sound Source: UniProtKB-KW

    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

    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 nonsyndromic 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

    ArrayExpressiQ0ZLH3.
    BgeeiQ0ZLH3.
    CleanExiHS_DFNB59.
    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.
    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

    MFAAATKSFV KQVGDGGRLV PVPSLSEADK YQPLSLVVKK KRCFLFPRYK    50
    FTSTPFTLKD ILLGDREISA GISSYQLLNY EDESDVSLYG RRGNHIVNDV 100
    GINVAGSDSI AVKASFGIVT KHEVEVSTLL KEITTRKINF DHSLIRQSRS 150
    SRKAVLCVVM ESIRTTRQCS LSVHAGIRGE AMRFHFMDEQ NPKGRDKAIV 200
    FPAHTTIAFS VFELFIYLDG AFDLCVTSVS KGGFEREETA TFALLYRLRN 250
    ILFERNRRVM DVISRSQLYL DDLFSDYYDK PLSMTDISLK EGTHIRVNLL 300
    NHNIPKGPCI LCGMGNFKRE TVYGCFQCSV DGQKYVRLHA VPCFDIWHKR 350
    MK 352
    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 nonsyndromic sensorineural deafness type DFNB.
    PharmGKBi PA134927047.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG133476.
    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

    ArrayExpressi Q0ZLH3.
    Bgeei Q0ZLH3.
    CleanExi HS_DFNB59.
    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

    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 1, 2014
    This is version 69 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