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

    Gene ID: 389207, updated on 10-Dec-2024

    Summary

    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; AllianceGenome:HGNC:31673
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GRXCR1 in Genome Data Viewer
    Location:
    4p13
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (42892713..43030658)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (42860117..42998036)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (42894730..43032675)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21524 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:42788207-42788750 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:42788751-42789294 Neighboring gene RN7SK pseudogene 82 Neighboring gene Sharpr-MPRA regulatory region 1727 Neighboring gene NANOG hESC enhancer GRCh37_chr4:43115153-43115654 Neighboring gene NANOG hESC enhancer GRCh37_chr4:43132135-43132728 Neighboring gene uncharacterized LOC105374432 Neighboring gene uncharacterized LOC105374434 Neighboring gene uncharacterized LOC105374433

    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

    Phenotypes

    Associated conditions

    Description Tests
    Autosomal recessive nonsyndromic hearing loss 25
    MedGen: C1414017 OMIM: 613285 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cochlea development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear receptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inner ear receptor cell stereocilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inner ear receptor cell stereocilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vestibular receptor cell development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    is_active_in kinocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in kinocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microvillus IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in stereocilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    glutaredoxin domain-containing cysteine-rich protein 1
    Names
    glutaredoxin, cysteine rich 1
    protein phosphatase 1, regulatory subunit 88

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4448..142393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001080476.3NP_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)
      AC098861, AC108035
      Consensus CDS
      CCDS43225.1
      UniProtKB/Swiss-Prot
      A8MXD5
      Related
      ENSP00000382670.2, ENST00000399770.3
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      42892713..43030658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      42860117..42998036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)