Ush1c Gene Summary [Rat]
Predicted to enable spectrin binding activity. Predicted to be involved in several processes, including G2/M transition of mitotic cell cycle; neuron development; and photoreceptor cell maintenance. Predicted to act upstream of or within inner ear development; neuromuscular process controlling balance; and parallel actin filament bundle assembly. Located in photoreceptor inner segment; photoreceptor outer segment; and stereocilium. Human ortholog(s) of this gene implicated in Usher syndrome; Usher syndrome type 1; Usher syndrome type 1C; and autosomal recessive nonsyndromic deafness 18A. Orthologous to human USH1C (USH1 protein network component harmonin). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ush1c |
| Official Name | USH1 protein network component harmonin [Source:RGD Symbol;Acc:1303329] |
| Ensembl ID | ENSRNOG00000021149 |
| Bio databases IDs | |
| Aliases | USH1 protein network component harmonin |
| Synonyms | 2010016F01Rik, AIE-75, DFNB18, DFNB18A, FLJ21290, Harmonin, NY-CO-37, NY-CO-38, PDZ-45, PDZ-73, PDZ-73/NY-CO-38, PDZD7C, ush1cpst, USH1 protein network component harmonin |
| Species | Rat, Rattus norvegicus |
| 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 rat Ush1c often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- myosin binding
- Pst domain
- harmonin_N_like
- canonical PDZ domain
- spectrin binding
- coiled-coil domain
- protein binding
- PDZ domain
- cpPDZ_Deg_HtrA-like
- cpPDZ_RseP_YlbL-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- nonsyndromic recessive deafness (DFNB18)
- Usher syndrome type 1C
- glioblastoma
- autosomal recessive nonsyndromic hearing loss
- glioblastoma cancer
- Usher syndrome
- retinitis pigmentosa
- retinal dystrophy
- hereditary disorder
- Usher syndrome type 1
regulates
- protein-protein complex
- CDHR5
role in cell
- morphology
- abnormal morphology
- maintenance
- differentiation
- size
- orientation
- organization
- assembly
- G2/M phase transition
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- apical compartment
- cytosol
- stereocilia
- synapse
- photoreceptor outer segments
- photoreceptor inner segments
- cuticular plate
- stereocilia bundles
- brush border
- microvilli
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Ush1c gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- inner ear receptor stereocilium organization
- macromolecular complex assembly
- auditory receptor cell morphogenesis
- retinal cone cell development
- sensory perception of sound
- G2/M transition of mitotic cell cycle
- auditory receptor cell differentiation
- photoreceptor cell maintenance
- inner ear morphogenesis
- equilibrioception
- regulation of microvillus length
- parallel actin filament bundle assembly
- sensory perception of light stimulus
- actin filament bundle assembly
Cellular Component
Where in the cell the gene product is active
- synapse
- stereocilia ankle link complex
- plasma membrane
- photoreceptor outer segment
- cytoskeleton
- brush border
- apical part of cell
- cytoplasm
- microvillus
- cilium
- cytosol
- stereocilium
- photoreceptor inner segment
- stereocilium bundle tip
Molecular Function
What the gene product does at the molecular level
- protein binding
- spectrin binding