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    GRXCR1 glutaredoxin and cysteine rich domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 389207, updated on 9-Jul-2017
    Official Symbol
    GRXCR1provided by HGNC
    Official Full Name
    glutaredoxin and cysteine rich domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:31673
    See related
    Ensembl:ENSG00000215203 MIM:613283; Vega:OTTHUMG00000160434
    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
    DFNB25; PPP1R88
    Summary
    This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment. This gene encodes a protein which contains GRX-like domains; these domains play a role in the S-glutathionylation of proteins and may be involved in actin organization in hair cells. [provided by RefSeq, Sep 2010]
    Orthologs
    Location:
    4p13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (42893266..43030658)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (42895283..43032675)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374431 Neighboring gene RNA, 7SK small nuclear pseudogene 82 Neighboring gene uncharacterized LOC105374432 Neighboring gene uncharacterized LOC105374434 Neighboring gene uncharacterized LOC105374433

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 25
    MedGen: C1414017 OMIM: 613285 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    electron carrier activity IEA
    Inferred from Electronic Annotation
    more info
     
    molecular_function ND
    No biological Data available
    more info
     
    protein disulfide oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell redox homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear receptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    inner ear receptor stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of phosphatase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vestibular receptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    kinocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    glutaredoxin domain-containing cysteine-rich protein 1
    Names
    glutaredoxin, cysteine rich 1
    protein phosphatase 1, regulatory subunit 88

    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_027718.1 RefSeqGene

      Range
      5001..142393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080476.2NP_001073945.1  glutaredoxin domain-containing cysteine-rich protein 1

      See identical proteins and their annotated locations for NP_001073945.1

      Status: REVIEWED

      Source sequence(s)
      AA588868, AC108035, BG213384, DT932651, DY654338
      Consensus CDS
      CCDS43225.1
      UniProtKB/Swiss-Prot
      A8MXD5
      Related
      ENSP00000382670.2, OTTHUMP00000218192, ENST00000399770.2, OTTHUMT00000360576
      Conserved Domains (1) summary
      cd03031
      Location:138285
      GRX_GRX_like; Glutaredoxin (GRX) family, GRX-like domain containing protein subfamily; composed of uncharacterized eukaryotic proteins containing a GRX-like domain having only one conserved cysteine, aligning to the C-terminal cysteine of the CXXC motif of GRXs. This ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      42893266..43030658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      42888840..43025561
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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