GRXCR1

GRXCR1
Identifiers
Aliases	GRXCR1, DFNB25, PPP1R88, glutaredoxin and cysteine rich domain containing 1
External IDs	OMIM: 613283 MGI: 3577767 HomoloGene: 42423 GeneCards: GRXCR1
Gene location (Human)
Chr.	Chromosome 4 (human)[1]
End	43,030,658 bp[1]
Gene location (Mouse)
Chr.	Chromosome 5 (mouse)[2]
End	68,166,398 bp[2]
Gene ontology
Molecular function	• protein disulfide oxidoreductase activity; • electron transfer activity; • molecular function;
Cellular component	• cell projection; • stereocilium; • cilium; • kinocilium; • microvilli;
Biological process	• oxidation-reduction process; • inner ear receptor cell development; • negative regulation of phosphatase activity; • inner ear receptor stereocilium organization; • sensory perception of sound; • vestibular receptor cell development; • cell redox homeostasis; • electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	389207
	433899
	ENSG00000215203
	ENSMUSG00000068082
	A8MXD5
	Q50H32
	NM_001080476
	NM_001018019
	NP_001073945
	NP_001018019
	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

GRCh38: Ensembl release 89: ENSG00000215203 - Ensembl, May 2017
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.
"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.
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.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000215203 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000068082 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: glutaredoxin, cysteine rich 1". Retrieved 2011-08-30.

[pmid20137778-6] 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-7] "Body weight data for Grxcr1". Wellcome Trust Sanger Institute.

[Anxiety-8] "Anxiety data for Grxcr1". Wellcome Trust Sanger Institute.

[Neurological_assessment-9] "Neurological assessment data for Grxcr1". Wellcome Trust Sanger Institute.

[Grip_strength-10] "Grip strength data for Grxcr1". Wellcome Trust Sanger Institute.

[Dysmorphology-11] "Dysmorphology data for Grxcr1". Wellcome Trust Sanger Institute.

[Indirect_calorimetry-12] "Indirect calorimetry data for Grxcr1". Wellcome Trust Sanger Institute.

[Glucose_tolerance_test-13] "Glucose tolerance test data for Grxcr1". Wellcome Trust Sanger Institute.

[DEXA-14] "DEXA data for Grxcr1". Wellcome Trust Sanger Institute.

[Body_temperature-15] "Body temperature data for Grxcr1". Wellcome Trust Sanger Institute.

[Clinical_chemistry-16] "Clinical chemistry data for Grxcr1". Wellcome Trust Sanger Institute.

[Haematology-17] "Haematology data for Grxcr1". Wellcome Trust Sanger Institute.

[mgp_reference-18] 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.

[19] Mouse Resources Portal, Wellcome Trust Sanger Institute.

[allele_ref-20] "International Knockout Mouse Consortium".

[pmid21722353-21] 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.