Ush1c Gene Summary [Mouse]
Predicted to enable myosin tail binding activity and spectrin binding activity. Involved in brush border assembly; protein localization to microvillus; and regulation of microvillus length. Acts upstream of or within several processes, including inner ear development; parallel actin filament bundle assembly; and sensory perception of sound. Located in several cellular components, including brush border; photoreceptor inner segment; and upper tip-link density. Is active in stereocilium. Is expressed in several structures, including alimentary system; cochlea; genitourinary system; heart; and lung epithelium. Used to study Usher syndrome type 1C and autosomal recessive nonsyndromic deafness 18A. 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, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Ush1c |
| Official Name | USH1 protein network component harmonin [Source:MGI Symbol;Acc:MGI:1919338] |
| Ensembl ID | ENSMUSG00000030838 |
| 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 | Mouse, Mus musculus |
| 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 mouse 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.
regulates
- protein-protein complex
- CDHR5
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
phenotypes
- absent pinna reflex
- decreased circulating amylase level
- decreased circulating glucose level
- decreased circulating insulin level
- decreased circulating triglyceride level
- decreased grip strength
- decreased leukocyte cell number
- decreased total body fat amount
- impaired righting response
- improved glucose tolerance
- increased bone mineral content
- increased circulating chloride level
- increased circulating sodium level
- increased food intake
- increased heart weight
- increased lean body mass
- increased mean platelet volume
- limb grasping
- stereotypic behavior
- trunk curl
- abnormal adipose tissue amount
- abnormal bone mineralization
- abnormal circulating chloride level
- abnormal circulating insulin level
- abnormal cochlear hair bundle tip links morphology
- abnormal cochlear hair cell inter-stereocilial links morphology
- abnormal cochlear hair cell morphology
- abnormal cochlear hair cell stereociliary bundle morphology
- abnormal cochlear outer hair cell morphology
- abnormal colon morphology
- abnormal electroretinogram waveform feature
- abnormal enterocyte morphology
- abnormal glucose tolerance
- abnormal grip strength
- abnormal hair cell mechanoelectric transduction
- abnormal inner hair cell stereociliary bundle morphology
- abnormal intestinal epithelium morphology
- abnormal lean body mass
- abnormal orientation of cochlear hair cell stereociliary bundles
- abnormal orientation of inner hair cell stereociliary bundles
- abnormal orientation of outer hair cell stereociliary bundles
- abnormal outer hair cell stereociliary bundle morphology
- abnormal small intestine morphology
- circling
- cochlear ganglion degeneration
- cochlear inner hair cell degeneration
- cochlear outer hair cell degeneration
- deafness
- decreased small intestinal microvillus size
- head bobbing
- head tossing
- hyperactivity
- impaired balance
- impaired swimming
- increased or absent threshold for auditory brainstem response
- organ of Corti degeneration
- retinal degeneration
- vestibular hair cell degeneration
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 mouse 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