GRXCR1
entrez
389207
canonical
uniprot
A8MXD5
canonical
ensembl
ENSG00000215203
resolver
ensp
ENSP00000382670
resolver
enst
ENST00000399770
resolver
genesymbol
GRXCR1
resolver
genesymbol_syn
DFNB25
resolver
hgnc
HGNC:31673
resolver
uniprot_entry
GRCR1_HUMAN
resolver
amino_acid_sequence
MLKREMKPESDRPRKVRFRIASSHSGRVLKEVYEDGQPSGSLDSECASICGIDGLGDSDGQQNGHIESEGDENENDQDSLLVLARAASEKGFGTRRVNILSKNGTVRGVKYKVSAGQALFNNLTKVLQQPSTDLEFDRVVIYTTCLRVVRTTFERCELVRKIFQNHRVKFEEKNIALNGEYGKELDERCRRVSEAPSLPVVFIDGHYLGGAEKILSMNESGELQDILTKIERVQHPHECPSCGGFGFLPCSVCHGSKMSMFRNCFTDSFKALKCTACNENGLQRCKNCAG
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:20137774, ECO:0000269|PubMed:20137778}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in actin filament architecture in developing stereocilia of sensory cells. {ECO:0000250}.
uniprot
proteins
mass_dalton
32294
uniprot
proteins
protein_family
GRXCR1 family
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
20137774
uniprot
proteins
pubmed
20137778
uniprot
proteins
sequence_length
290
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: 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}.
uniprot
proteins