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Tbio
USH1C
Harmonin

Protein Summary
Description
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 development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018). This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000005226
  • ENSP00000005226
  • ENSG00000006611
  • ENST00000318024
  • ENSP00000317018
  • ENST00000526313
  • ENSP00000432236
  • ENST00000527020
  • ENSP00000436934
  • ENST00000527720
  • ENSP00000432944

Symbol
  • AIE75
  • PDZ73
  • AIE-75
  • DFNB18
  • PDZ-45
  • PDZ-73
  • PDZD7C
  • DFNB18A
  • NY-CO-37
  • NY-CO-38
  • ush1cpst
  • PDZ-73/NY-CO-38
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
interacting protein
0.71
cell line
0.63
cell type or tissue
0.56
phenotype
0.56
gene perturbation
0.52


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 102.91   (req: < 5)
Gene RIFs: 29   (req: <= 3)
Antibodies: 238   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 102.91   (req: >= 5)
Gene RIFs: 29   (req: > 3)
Antibodies: 238   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 16
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0