Human Gene USH1G (ENST00000614341.5) from GENCODE V44
Description: Homo sapiens USH1 protein network component sans (USH1G), transcript variant 1, mRNA. (from RefSeq NM_173477) RefSeq Summary (NM_173477): 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). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]. Gencode Transcript: ENST00000614341.5 Gencode Gene: ENSG00000182040.9 Transcript (Including UTRs) Position: hg38 chr17:74,916,083-74,923,255 Size: 7,173 Total Exon Count: 3 Strand: - Coding Region Position: hg38 chr17:74,918,073-74,923,073 Size: 5,001 Coding Exon Count: 3
ID:USH1G_HUMAN DESCRIPTION: RecName: Full=Usher syndrome type-1G protein; AltName: Full=Scaffold protein containing ankyrin repeats and SAM domain; FUNCTION: Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing. SUBUNIT: Interacts with CDH23 (By similarity). Interacts with USH1C (via the first PDZ domain) and with USH1G. Interacts with PDZD7. Interacts with MYO7A. Part of a complex composed of USH1C, USH1G and MYO7A. SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein (By similarity). Note=Detected at the tip of cochlear hair cell stereocilia. Recruited to the cell membrane via interaction with CDH23 (By similarity). TISSUE SPECIFICITY: Expressed in vestibule of the inner ear, eye and small intestine. DISEASE: Defects in USH1G are the cause of Usher syndrome type 1G (USH1G) [MIM:606943]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness. SIMILARITY: Contains 3 ANK repeats. SIMILARITY: Contains 1 SAM (sterile alpha motif) domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/USH1G";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q495M9
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
