USH1G Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | USH1G |
| Official Name | USH1 protein network component sans [Source:HGNC Symbol;Acc:HGNC:16356] |
| Ensembl ID | ENSG00000182040 |
| Bio databases IDs | |
| Aliases | USH1 protein network component sans |
| Synonyms | ANKS4A, js, SANS, USH1 protein network component sans |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human USH1G often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Sterile alpha motif
- Ankyrin repeats (many copies)
- SAM (Sterile alpha motif )
- SAM domain
- Ankyrin repeats (3 copies)
- spectrin binding
- CEN_USH1G_ANKS4B
- protein binding
- identical protein binding
- Ankyrin repeat
- ankyrin repeats
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Usher syndrome type 1G
- colorectal cancer
- Usher syndrome
- hearing loss
- familial nonsyndromic hearing impairment
- autosomal recessive deafness
- Usher syndrome type 1
- androgenic alopecia
regulated by
- MYO7A
- P-TEFb
role in cell
- differentiation
- abnormal morphology
- organization
- mechanotransduction
- maintenance
- disorganization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- non-motile cilium
- cellular membrane
- actin cytoskeleton
- basal bodies
- cytosol
- connecting cilia
- nuclear speckles
- Cajal bodies
- neurites
- photoreceptor inner segments
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human USH1G gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- inner ear receptor stereocilium organization
- photoreceptor cell maintenance
- inner ear morphogenesis
- equilibrioception
- sensory perception of light stimulus
- regulation of clathrin-mediated endocytosis
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- centrosome
- cilium basal body
- nuclear speck
- Cajal body
- actin cytoskeleton
- cytosol
- photoreceptor inner segment
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- spectrin binding