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 NCBI: 72088 Ensembl: ENSMUSG00000030838
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
OrthologiesHumanRat

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.
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 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

Gene-Specific Assays for Results You Can Trust

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