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

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel mutations in GRXCR1 at DFNB25 leading to progressive hearing loss are identified in a Japanese family.
Title: Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.
Quantitative analysis of GRXCR1 transcripts in fetal and adult human tissues revealed a preferential expression of the gene in fetal cochlea, which may explain the nonsyndromic nature of the hearing impairment.
Title: Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

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 EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: glutaredoxin domain-containing cysteine-rich protein 1

Names: glutaredoxin, cysteine rich 1; protein phosphatase 1, regulatory subunit 88

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

NG_027718.1 RefSeqGene

Range

4448..142393

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001080476.3 → NP_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:138 → 285

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 ...