GRXCR1

Protein identityUniProt · HPA

UniProt accession

A8MXD5

Gene

GRXCR1

Ensembl

ENSG00000215203

Chromosome

4

Canonical length

290 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

290 residues, UniProt reviewed canonical sequence.

>A8MXD5|GRXCR1
     1  MLKREMKPES DRPRKVRFRI ASSHSGRVLK EVYEDGQPSG SLDSECASIC GIDGLGDSDG
    61  QQNGHIESEG DENENDQDSL LVLARAASEK GFGTRRVNIL SKNGTVRGVK YKVSAGQALF
   121  NNLTKVLQQP STDLEFDRVV IYTTCLRVVR TTFERCELVR KIFQNHRVKF EEKNIALNGE
   181  YGKELDERCR RVSEAPSLPV VFIDGHYLGG AEKILSMNES GELQDILTKI ERVQHPHECP
   241  SCGGFGFLPC SVCHGSKMSM FRNCFTDSFK ALKCTACNEN GLQRCKNCAG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GRXCR1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.43

Highest tissue expression

2.4 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GRXCR1.

Disease | AllUniProt

Conditions GRXCR1 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 25 (DFNB25) MIM:613285

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 165 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 25
• GRXCR1-related disorder
• Hearing loss, autosomal recessive
• Rare genetic deafness
• Monogenic hearing loss

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.7

gnomAD pLI

0

gnomAD missense Z

-0.48

DepMap mean gene effect

0.04

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• auditory receptor cell stereocilium organization
• calcium ion transmembrane transport
• cochlea development
• establishment of localization in cell
• exocytosis
• inner ear receptor cell development
• inner ear receptor cell stereocilium organization
• plasma membrane organization
• response to acetylcholine
• response to calcium ion
• sensory perception of sound
• vestibular receptor cell development

Cellular components

• kinocilium
• microvillus
• stereocilium

Protein domainsUniProt · Pfam · InterPro

• Glutaredoxin
• Thioredoxin-like superfamily
• Glutaredoxin
• GRXCR1/2, C-terminal domain
• Glutaredoxin domain-containing cysteine-rich protein 1

KeywordsUniProt

• Cell projection
• Cilium
• Deafness
• Hearing
• Non-syndromic deafness