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

Gene ID: 389207, updated on 12-Oct-2019

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
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

Genomic context

See GRXCR1 in Genome Data Viewer
Location:
4p13
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 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 LOC105374430 Neighboring gene RN7SK pseudogene 82 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

Bibliography

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
electron transfer 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
 
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
inner ear receptor cell development ISS
Inferred from Sequence or Structural Similarity
more info
 
inner ear receptor cell stereocilium organization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
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
cell IEA
Inferred from Electronic Annotation
more info
 
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
 

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)

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, ENST00000399770.2
    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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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