InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Gene: Ush1c

Summary

InnateDB Gene

IDBG-185584.7

Last Modified

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

Gene Symbol

Ush1c

Gene Name

Usher syndrome 1C

Synonyms

2010016F01Rik; harmonin

Species

Mus musculus

Ensembl Gene

ENSMUSG00000030838

Encoded Proteins

IDBP-185586

Usher syndrome 1C homolog (human)

IDBP-185588

Usher syndrome 1C homolog (human)

IDBP-532517

Usher syndrome 1C homolog (human)

IDBP-538584

Usher syndrome 1C homolog (human)

IDBP-722777

IDBP-722385

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000006611:
This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 7:46195350-46238503

Strand

Reverse strand

Band

Transcripts

ENSMUST00000009667	ENSMUSP00000009667
ENSMUST00000078680	ENSMUSP00000077747
ENSMUST00000143155	ENSMUSP00000119676
ENSMUST00000154292	ENSMUSP00000114494
ENSMUST00000129266
ENSMUST00000148527
ENSMUST00000177212	ENSMUSP00000135734
ENSMUST00000176371	ENSMUSP00000134783

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:0000086	G2/M transition of mitotic cell cycle
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:0045494	photoreceptor cell maintenance
GO:0050885	neuromuscular process controlling balance
GO:0050953	sensory perception of light stimulus
GO:0050957	equilibrioception
GO:0051017	actin filament bundle assembly

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0001917	photoreceptor inner segment
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005856	cytoskeleton
GO:0005886	plasma membrane
GO:0032420	stereocilium
GO:0045177	apical part of cell
GO:0045202	synapse

Orthologs

Species

Homo sapiens

Bos taurus

Gene ID

Gene Order

ENSG00000006611

View Gene Order

ENSBTAG00000000986

Not yet available

Pathway Predictions based on Human Orthology Data

NETPATH

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001163733 NM_001291182 NM_023649 NM_153677 XM_006541212

OMIM

CCDS

CCDS21276 CCDS39963 CCDS52250

HPRD

IMGT

MGI ID

MGI Symbol

EMBL

GenPept

RNA Seq Atlas