GRXCR1

Protein-coding gene in the species Homo sapiens

GRXCR1

Identifiers

Aliases

GRXCR1, DFNB25, PPP1R88, glutaredoxin and cysteine rich domain containing 1

External IDs

OMIM: 613283; MGI: 3577767; HomoloGene: 42423; GeneCards: GRXCR1; OMA:GRXCR1 - orthologs

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4p13	Start	42,892,713 bp^[1]
Band	4p13	End	43,030,658 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5 C3.1\|5 36.59 cM	Start	68,189,178 bp^[2]
Band	5 C3.1\|5 36.59 cM	End	68,323,741 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

testicle

gonad

right frontal lobe

anterior cingulate cortex

prostate

Top expressed in

endolymphatic duct

vestibular labyrinth

utricle

blastocyst

testicle

neural tube

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	protein-disulfide reductase activity electron transfer activity molecular function
Cellular component	cell projection stereocilium cilium kinocilium microvillus
Biological process	inner ear receptor cell development negative regulation of phosphatase activity inner ear receptor cell stereocilium organization hearing vestibular receptor cell development cell redox homeostasis electron transport chain
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


389207


433899

Ensembl


ENSG00000215203


ENSMUSG00000068082

UniProt


A8MXD5


Q50H32

RefSeq (mRNA)


NM_001080476


NM_001018019

RefSeq (protein)


NP_001073945


NP_001018019

Location (UCSC)

Chr 4: 42.89 – 43.03 Mb

Chr 5: 68.19 – 68.32 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Glutaredoxin domain-containing cysteine-rich protein 1 is a protein that in humans is encoded by the GRXCR1 gene.^[5]

This gene is one of 60 loci associated with autosomal-recessive nonsyndromic hearing impairment.^[6] 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.^[5]

Model organisms

*tasmanian devil* mouse phenotype
Characteristic	Phenotype
Homozygote viability	Normal
Fertility	Normal
Body weight	Abnormal^[7]
Anxiety	Abnormal^[8]
Neurological assessment	Abnormal^[9]
Grip strength	Abnormal^[10]
Hot plate	Normal
Dysmorphology	Normal^[11]
Indirect calorimetry	Abnormal^[12]
Glucose tolerance test	Abnormal^[13]
Auditory brainstem response	Abnormal
DEXA	Abnormal^[14]
Radiography	Normal
Body temperature	Abnormal^[15]
Eye morphology	Normal
Clinical chemistry	Abnormal^[16]
Plasma immunoglobulins	Abnormal
Haematology	Abnormal^[17]
Peripheral blood lymphocytes	Abnormal
Micronucleus test	Normal
Heart weight	Normal
Tail epidermis wholemount	Normal
Skin Histopathology	Normal
Brain histopathology	Normal
All tests and analysis from^[18]^[19]

Model organisms have been used in the study of GRXCR1 function. A mutant mouse line, called tasmanian devil (Grxcr1^tde^[20]) was generated. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.^[18]^[21] Twenty four tests were carried out on mutant mice and thirteen significant abnormalities were observed.^[18] Homozygous mutant animals of both sex displayed decreased body weights, grip strength, body fat, body length and plasma immunoglobulins, abnormal open field test and modified SHIRPA behaviour, and severe hearing impairment at 13 weeks. Male homozygous mutant animals additionally showed abnormal indirect calorimetry and clinical chemistry parameters, improved glucose tolerance and a decreased leukocyte cell number. Female homozygotes also had an increased response to stress-induced hyperthermia and a significantly reduced monocyte percentage.^[18]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000215203 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000068082 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: glutaredoxin, cysteine rich 1". Retrieved 2011-08-30.
^ Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, Kremer H (February 2010). "Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment". Am. J. Hum. Genet. 86 (2): 138–47. doi:10.1016/j.ajhg.2009.12.017. PMC 2820176. PMID 20137778.
^ "Body weight data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Anxiety data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Neurological assessment data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Grip strength data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Dysmorphology data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Indirect calorimetry data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Glucose tolerance test data for Grxcr1". Wellcome Trust Sanger Institute.
^ "DEXA data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Body temperature data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Clinical chemistry data for Grxcr1". Wellcome Trust Sanger Institute.
^ "Haematology data for Grxcr1". Wellcome Trust Sanger Institute.
^ ^a ^b ^c ^d Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
^ Mouse Resources Portal, Wellcome Trust Sanger Institute.
^ "International Knockout Mouse Consortium".
^ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biol. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.