InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ush1c

Summary

InnateDB Protein

IDBP-185588.7

Last Modified

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

Gene Symbol

Ush1c

Protein Name

Usher syndrome 1C homolog (human)

Synonyms

2010016F01Rik; harmonin;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000077747

InnateDB Gene

IDBG-185584 (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. {ECO:0000269PubMed:19447093}.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000269PubMed:19447093}. Note=Detected at the tip of cochlear hair cell stereocilia. Colocalizes with F-actin.

Disease Associations

Tissue Specificity

Detected in stereocilia of cochlear hair cells (at protein level). Isoform 1 is expressed in the eye, cochlea, vestibule, heart, kidney, small intestine and testis; it is barely visible in skeletal muscle, liver, and lung and is absent from the brain. Isoforms 2 and 3 are expressed in the cochlea and vestibule. {ECO:0000269PubMed:10973247, ECO:0000269PubMed:19447093}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 8 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	8 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030507	spectrin binding
GO:0032029	myosin tail binding

Biological Process

GO:0007605	sensory perception of sound
GO:0030046	parallel actin filament bundle assembly
GO:0042472	inner ear morphogenesis
GO:0042491	auditory receptor cell differentiation
GO:0050885	neuromuscular process controlling balance
GO:0051017	actin filament bundle assembly

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0001917	photoreceptor inner segment
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0032420	stereocilium
GO:0045202	synapse