Grxcr1 glutaredoxin, cysteine rich 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Grxcr1provided by MGI
Official Full Name: glutaredoxin, cysteine rich 1provided by MGI
Primary source: MGI:MGI:3577767
See related: Ensembl:ENSMUSG00000068082 AllianceGenome:MGI:3577767
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: pi; tde; Tg(Eno2-Gabrb3)0370Brll
Summary: Predicted to enable protein-disulfide reductase activity. Involved in inner ear receptor cell stereocilium organization and vestibular receptor cell development. Acts upstream of or within inner ear auditory receptor cell differentiation; post-embryonic animal organ morphogenesis; and sensory perception of sound. Located in kinocilium and stereocilium. Is expressed in endolymphatic duct and utricle. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 25. Orthologous to human GRXCR1 (glutaredoxin and cysteine rich domain containing 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 C3.1; 5 36.59 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (68189122..68323741)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (68031835..68166398)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deafness in pirouette mutants is associated with loss of GRXCR1 function in modulating actin cytoskeletal architecture in the developing stereocilia of sensory hair cells.
Title: Mutations in Grxcr1 are the basis for inner ear dysfunction in the pirouette mouse.

Submit: New GeneRIF Correction

Phenotypes

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Associated conditions

Description	Tests
pirouette GeneReviews: Not available

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (3)
Spontaneous (4) 1 citation
Transgenic (2) 1 citation

General gene information

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Markers

D5Mit257 (e-PCR), detects polymorphism
- UniSTS:130392

D5Ncnp6 (e-PCR), detects polymorphism
- UniSTS:225665

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cochlea development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner ear receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
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	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vestibular receptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cilium	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in kinocilium	IBA Inferred from Biological aspect of Ancestor more info
located_in kinocilium	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium	IBA Inferred from Biological aspect of Ancestor more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed

General protein information

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

Names: glutaredoxin cysteine-rich 1 protein

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.

mRNA and Protein(s)

NM_001018019.3 → NP_001018019.3 glutaredoxin domain-containing cysteine-rich protein 1

Status: VALIDATED

Source sequence(s)

AC107758, AC160555

Consensus CDS

CCDS19319.2

UniProtKB/Swiss-Prot

Q50H32

UniProtKB/TrEMBL

G3X9N2

Related

ENSMUSP00000092305.6, ENSMUST00000094715.9

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 ...