InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: USH1C

Summary

InnateDB Protein

IDBP-34085.6

Last Modified

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

Gene Symbol

USH1C

Protein Name

Usher syndrome 1C (autosomal recessive, severe)

Synonyms

AIE-75; DFNB18; DFNB18A; NY-CO-37; NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; ush1cpst;

Species

Homo sapiens

Ensembl Protein

ENSP00000317018

InnateDB Gene

IDBG-34081 (USH1C)

Protein Structure

UniProt Annotation

Function

Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia. {ECO:0000250}.

Disease Associations

Usher syndrome 1C (USH1C) [MIM:276904]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. {ECO:0000269PubMed:10973247}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 18A (DFNB18A) [MIM:602092]: A form of non-syndromic sensorineural hearing loss. 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:12107438}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. {ECO:0000269PubMed:12588794}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.

Experimentally validated
Total	14 [view]
Protein-Protein	14 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	6 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030507	spectrin binding

Biological Process

GO:0000086	G2/M transition of mitotic cell cycle
GO:0007605	sensory perception of sound
GO:0045494	photoreceptor cell maintenance
GO:0050953	sensory perception of light stimulus
GO:0050957	equilibrioception