Version 5.4
Bos taurus Gene: USH1C
Summary
InnateDB Gene IDBG-632403.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol USH1C
Gene Name harmonin
Synonyms
Species Bos taurus
Ensembl Gene ENSBTAG00000000986
Encoded Proteins
IDBP-684082
harmonin
IDBP-684090
harmonin
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 15:35500365-35548981
Strand Forward strand
Band
Transcripts
ENSBTAT00000001304 ENSBTAP00000001304
ENSBTAT00000061285 ENSBTAP00000053819
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.
Predicted by orthology
Total 11 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0030507 spectrin 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:0005886 plasma membrane
GO:0032420 stereocilium
GO:0045177 apical part of cell
GO:0045202 synapse
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
ENSG00000006611
View Gene Order
ENSMUSG00000030838
View Gene Order
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E1BK26
UniProt Splice Variant
Entrez Gene 530709
UniGene Bt.9867
RefSeq NM_001035382
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL DAAA02040586
GenPept
RNA Seq Atlas 530709

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca