Homo sapiens Gene: USH1G
Summary
InnateDB Gene IDBG-67757.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol USH1G
Gene Name Usher syndrome 1G (autosomal recessive)
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000182040
Encoded Proteins
Usher syndrome 1G (autosomal recessive)
Protein Structure
Entrez Gene
Summary This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:74916084-74923256
Strand Reverse strand
Band q25.1
Transcripts
ENST00000579243 ENSP00000462568
ENST00000614341 ENSP00000480279
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 2 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q495M9
TrEMBL J3KSN5
UniProt Splice Variant
Entrez Gene 124590
UniGene Hs.376688
RefSeq NM_001282489 NM_173477
HUGO HGNC:16356
OMIM 607696
CCDS CCDS32725
HPRD 09648
IMGT
EMBL AC068874 AK091243 BC101096 BC101097 BC101098 BC101099
GenPept AAI01097 AAI01098 AAI01099 AAI01100 BAC03619
ImmGen USH1G (murine)
RNA Seq Atlas 124590