InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: USH1C

Summary

InnateDB Gene

IDBG-34081.6

Last Modified

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

Gene Symbol

USH1C

Gene 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 Gene

ENSG00000006611

Encoded Proteins

IDBP-34083

Usher syndrome 1C (autosomal recessive, severe)

IDBP-34085

Usher syndrome 1C (autosomal recessive, severe)

IDBP-589361

Usher syndrome 1C (autosomal recessive, severe)

IDBP-594536

Usher syndrome 1C (autosomal recessive, severe)

IDBP-595886

Usher syndrome 1C (autosomal recessive, severe)

IDBP-587449

Usher syndrome 1C (autosomal recessive, severe)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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 11:17493895-17544416

Strand

Reverse strand

Band

p15.1

Transcripts

ENST00000005226	ENSP00000005226
ENST00000318024	ENSP00000317018
ENST00000526313	ENSP00000432236
ENST00000527720	ENSP00000432944
ENST00000527020	ENSP00000436934
ENST00000529563
ENST00000527551
ENST00000534556
ENST00000530700
ENST00000526181	ENSP00000437128
ENST00000624811

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
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

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000030838

View Gene Order

ENSBTAG00000000986

Not yet available

Pathways

NETPATH

REACTOME

KEGG

INOH

PID NCI

Cross-References

SwissProt

Q9Y6N9

TrEMBL

UniProt Splice Variant

Entrez Gene

10083

UniGene

Hs.502072

RefSeq

NM_001297764 NM_005709 NM_153676 XM_005252725

HUGO

HGNC:12597

OMIM

605242

CCDS

CCDS31438 CCDS73265 CCDS7825

HPRD

09241

IMGT

EMBL

AB006955 AB018687 AC124799 AF039699 AF039700 AK290788 BC016057 BK000147 CH471064

GenPept

AAC18048 AAC18049 AAH16057 BAA81739 BAA81740 BAF83477 DAA00086 EAW68432

RNA Seq Atlas

10083