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
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome 1C (autosomal recessive, severe)
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
Chaperones modulate interferon signaling pathway [Biocarta view]
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.502072
RefSeq NM_001297764 NM_005709 NM_153676 XM_005252725
HUGO
OMIM
CCDS CCDS31438 CCDS73265 CCDS7825
HPRD 09241
IMGT
EMBL
GenPept
RNA Seq Atlas