Entity Details

Primary name GRCR1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionA8MXD5
EntryNameGRCR1_HUMAN
FullNameGlutaredoxin domain-containing cysteine-rich protein 1
TaxID9606
Evidenceevidence at protein level
Length290
SequenceStatuscomplete
DateCreated2008-09-02
DateModified2021-04-07

Ontological Relatives

GenesGRXCR1

GO terms

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GOName
GO:0005902 microvillus
GO:0007605 sensory perception of sound
GO:0010923 negative regulation of phosphatase activity
GO:0015035 protein-disulfide reductase activity
GO:0032420 stereocilium
GO:0060091 kinocilium
GO:0060118 vestibular receptor cell development
GO:0060119 inner ear receptor cell development
GO:0060122 inner ear receptor cell stereocilium organization

Subcellular Location

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Subcellular Location
Cell projection

Domains

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DomainNameCategoryType
IPR002109 GlutaredoxinDomainDomain
IPR036249 Thioredoxin-like superfamilyFamilyHomologous superfamily
IPR042797 Glutaredoxin domain-containing cysteine-rich protein 1FamilyFamily

Diseases

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Disease IDSourceNameDescription
613285 OMIMDeafness, autosomal recessive, 25 (DFNB25)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. The disease is caused by variants affecting the gene represented in this entry.