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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


Related Tools
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 96.75   (req: < 5)
Gene RIFs: 27   (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: 96.75   (req: >= 5)
Gene RIFs: 27   (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
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
USH1 protein network component harmonin
VGNC:7694
749420
Macaque
USH1 protein network component harmonin
696911
Mouse
MGI:1919338
72088
Dog
USH1 protein network component harmonin
VGNC:48172
610850
Horse
USH1 protein network component harmonin
VGNC:24825
102149805
Species
Name
OMA
EggNOG
Inparanoid
Chimp
USH1 protein network component harmonin
Macaque
USH1 protein network component harmonin
Mouse
Dog
USH1 protein network component harmonin
Horse
USH1 protein network component harmonin
Protein Data Bank (10)
1 – 5 of 10
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Gene Ontology Terms (30)
Items per page:
10
1 – 2 of 2
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
MGI
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (121)
1 – 10 of 121
USH1G
Tbio
Novelty: 0.02912203
p_int: 0.999999999
p_wrong: 1e-9
Score: 0.996
Data Source: BioPlex,STRINGDB
CDH23
Tbio
Novelty: 0.00588227
Score: 0.999
Data Source: STRINGDB
MYO7A
Tbio
Novelty: 0.00314435
Score: 0.972
Data Source: STRINGDB
PCDH15
Tbio
Novelty: 0.0097699
Score: 0.964
Data Source: STRINGDB
USH2A
Tbio
Novelty: 0.00223387
Score: 0.948
Data Source: STRINGDB
ANKS4B
Tbio
Novelty: 0.35447199
Score: 0.933
Data Source: STRINGDB
ADGRV1
Tbio
Family: GPCR
Novelty: 0.01398129
Score: 0.933
Data Source: STRINGDB
CLRN1
Tbio
Novelty: 0.03334995
Score: 0.914
Data Source: STRINGDB
TAX1BP3
Tbio
Novelty: 0.01605171
Score: 0.906
Data Source: STRINGDB
LIN7A
Tbio
Novelty: 0.0202389
Score: 0.906
Data Source: STRINGDB
Publication Statistics
PubMed Score  96.75

PubMed score by year
PubTator Score  62.69

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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