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PJVK pejvakin [ Homo sapiens (human) ]

Gene ID: 494513, updated on 23-Nov-2021

Summary

Official Symbol
PJVKprovided by HGNC
Official Full Name
pejvakinprovided by HGNC
Primary source
HGNC:HGNC:29502
See related
Ensembl:ENSG00000204311 MIM:610219
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB59
Summary
The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]
Expression
Broad expression in testis (RPKM 5.2), ovary (RPKM 1.3) and 20 other tissues See more
Orthologs
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Genomic context

See PJVK in Genome Data Viewer
Location:
2q31.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (178450592..178467549)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (179316105..179326829)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene oxysterol binding protein like 6 Neighboring gene cholesterol induced regulator of metabolism RNA Neighboring gene protein activator of interferon induced protein kinase EIF2AK2 Neighboring gene nuclear distribution C pseudogene 2 Neighboring gene pleckstrin homology domain containing A3 Neighboring gene FKBP prolyl isomerase 7 Neighboring gene TTN antisense RNA 1 Neighboring gene titin

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in detection of mechanical stimulus involved in sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
involved_in pexophagy ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in programmed cell death in response to reactive oxygen species ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of peroxisome organization ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to reactive oxygen species ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sensory perception of sound IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in stereocilium maintenance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in ciliary rootlet IEA
Inferred from Electronic Annotation
more info
 
located_in cortical actin cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in stereocilium base IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
pejvakin
Names
autosomal recessive deafness type 59 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012186.1 RefSeqGene

    Range
    5001..15131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042702.5NP_001036167.1  pejvakin isoform 1

    See identical proteins and their annotated locations for NP_001036167.1

    Status: REVIEWED

    Source sequence(s)
    AC009948, BC127902, DQ365827
    Consensus CDS
    CCDS42787.1
    UniProtKB/Swiss-Prot
    Q0ZLH3
    Related
    ENSP00000495855.2, ENST00000644580.2
    Conserved Domains (1) summary
    pfam04598
    Location:1237
    Gasdermin; Gasdermin family
  2. NM_001353775.2NP_001340704.1  pejvakin isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC009948
    Conserved Domains (1) summary
    pfam04598
    Location:2240
    Gasdermin; Gasdermin family
  3. NM_001353776.2NP_001340705.1  pejvakin isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC009948
    Conserved Domains (1) summary
    pfam04598
    Location:41258
    Gasdermin; Gasdermin family
  4. NM_001353777.1NP_001340706.1  pejvakin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC009948
    Consensus CDS
    CCDS86897.1
    Related
    ENSP00000495731.1, ENST00000645817.1
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family
  5. NM_001353778.2NP_001340707.1  pejvakin isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC009948
    Consensus CDS
    CCDS86897.1
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family
  6. NM_001369912.1NP_001356841.1  pejvakin isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC009948
    Related
    ENSP00000364271.4, ENST00000375129.8
    Conserved Domains (1) summary
    pfam04598
    Location:1237
    Gasdermin; Gasdermin family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    178450592..178467549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511251.1XP_011509553.1  pejvakin isoform X4

    See identical proteins and their annotated locations for XP_011509553.1

    UniProtKB/TrEMBL
    A0PK15
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family
  2. XM_024452927.1XP_024308695.1  pejvakin isoform X4

    Related
    ENSP00000496267.1, ENST00000642492.1
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family
  3. XM_005246629.4XP_005246686.1  pejvakin isoform X2

    Conserved Domains (1) summary
    pfam04598
    Location:5234
    Gasdermin; Gasdermin family
  4. XM_011511249.3XP_011509551.1  pejvakin isoform X4

    See identical proteins and their annotated locations for XP_011509551.1

    UniProtKB/TrEMBL
    A0PK15
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family
  5. XM_017004221.2XP_016859710.1  pejvakin isoform X1

  6. XM_024452928.1XP_024308696.1  pejvakin isoform X4

    Related
    ENSP00000494225.1, ENST00000642192.1
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family
  7. XM_011511247.3XP_011509549.1  pejvakin isoform X3

    Conserved Domains (1) summary
    pfam04598
    Location:41272
    Gasdermin; Gasdermin family
  8. XM_017004224.2XP_016859713.1  pejvakin isoform X4

    UniProtKB/TrEMBL
    A0PK15
    Conserved Domains (1) summary
    pfam04598
    Location:177
    Gasdermin; Gasdermin family

RNA

  1. XR_002959300.1 RNA Sequence

  2. XR_001738753.2 RNA Sequence

  3. XR_922929.3 RNA Sequence

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