InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Ush1g

Summary

InnateDB Protein

IDBP-214281.6

Last Modified

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

Gene Symbol

Ush1g

Protein Name

Usher syndrome 1G homolog (human)

Synonyms

js; Sans;

Species

Mus musculus

Ensembl Protein

ENSMUSP00000099326

InnateDB Gene

IDBG-214279 (Ush1g)

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:21436032, ECO:0000269PubMed:21709241}.

Subcellular Localization

Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 or PCDH15.

Disease Associations

Note=Defects in Ush1g are the cause of the Jackson shaker phenotypes (js). Jackson shaker mice carry recessive mutations predicted to inactivate Ush1g by frameshift resulting in a truncated protein lacking the C-terminal SAM domain. The js phenotype is characterized by deafness, abnormal behavior (circling and/or head-tossing) and degeneration of inner ear neuroepithelia. Defects in the formation of protein complex including Ush1g may disrupt stereocilia bundle in js mice.

Tissue Specificity

Detected in stereocilia from cochlear hair cells (at protein level). Highly expressed in the cochlea, testis, cerebellum and eye, and low levels in brain, thymus and spleen. Significant signals detected in the neurosensory epithelium of inner ear cochlea and saccule, especially in inner and outer hair cells. {ECO:0000269PubMed:12588793, ECO:0000269PubMed:21436032, ECO:0000269PubMed:21709241}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0030507	spectrin binding
GO:0042803	protein homodimerization activity

Biological Process

GO:0007605	sensory perception of sound
GO:0042472	inner ear morphogenesis
GO:0045494	photoreceptor cell maintenance
GO:0050953	sensory perception of light stimulus
GO:0050957	equilibrioception
GO:0060113	inner ear receptor cell differentiation

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0015629	actin cytoskeleton
GO:0016020	membrane

Protein Structure and Domains

PDB ID

MGI:2450757

InterPro

IPR001660 Sterile alpha motif domain
IPR002110 Ankyrin repeat
IPR013761 Sterile alpha motif/pointed domain
IPR020683 Ankyrin repeat-containing domain
IPR021129 Sterile alpha motif, type 1

PFAM

PF00023
PF13606
PF11929
PF12796
PF00536

PRINTS

PR01415

PIRSF

SMART

SM00454
SM00248

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt