InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: GRXCR1

Summary

InnateDB Protein

IDBP-229837.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GRXCR1

Protein Name

glutaredoxin, cysteine rich 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000382670

InnateDB Gene

IDBG-229835 (GRXCR1)

Protein Structure

UniProt Annotation

Function

May play a role in actin filament architecture in developing stereocilia of sensory cells. {ECO:0000250}.

Subcellular Localization

Cell projection, stereocilium {ECO:0000250}. Cell projection, microvillus {ECO:0000250}. Cell projection, kinocilium {ECO:0000250}. Note=In the inner ear, localized to stereocilia, apical microvilli of sensory cells and kinocilia. {ECO:0000250}.

Disease Associations

Deafness, autosomal recessive, 25 (DFNB25) [MIM:613285]: A form of non-syndromic sensorineural deafness characterized by moderate to severe or profound hearing loss which is progressive in some individuals but not in others. Speech development is impaired in some but not all affected individuals, and vestibular dysfunction is observed in some affected individuals. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:20137774, ECO:0000269PubMed:20137778}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed at low levels in adult lung, brain and duodenum with moderate levels in testis. Highly expressed in fetal cochlea. {ECO:0000269PubMed:20137778}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0009055	electron carrier activity
GO:0015035	protein disulfide oxidoreductase activity
GO:0031072	heat shock protein binding
GO:0051082	unfolded protein binding

Biological Process

GO:0007605	sensory perception of sound
GO:0010923	negative regulation of phosphatase activity
GO:0042491	auditory receptor cell differentiation
GO:0045454	cell redox homeostasis
GO:0048563	post-embryonic organ morphogenesis
GO:0048839	inner ear development
GO:0055114	oxidation-reduction process
GO:0060118	vestibular receptor cell development
GO:0060119	inner ear receptor cell development
GO:0060122	inner ear receptor stereocilium organization