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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: 126.71   (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: 126.71   (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
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: 0.01878137
p_int: 0.999999999
p_wrong: 1e-9
Score: 0.996
Data Source: BioPlex,STRINGDB
CDH23
Tbio
Novelty: 0.00827259
Score: 0.999
Data Source: STRINGDB
MYO7A
Tbio
Novelty: 0.00429904
Score: 0.972
Data Source: STRINGDB
PCDH15
Tbio
Novelty: 0.01391288
Score: 0.964
Data Source: STRINGDB
USH2A
Tbio
Novelty: 0.00307613
Score: 0.948
Data Source: STRINGDB
ANKS4B
Tbio
Novelty: 0.75
Score: 0.933
Data Source: STRINGDB
ADGRV1
Tbio
Family: GPCR
Novelty: 0.00291831
Score: 0.933
Data Source: STRINGDB
CLRN1
Tbio
Novelty: 0.03361591
Score: 0.914
Data Source: STRINGDB
TAX1BP3
Tbio
Novelty: 0.01762102
Score: 0.906
Data Source: STRINGDB
LIN7A
Tbio
Novelty: 0.01472118
Score: 0.906
Data Source: STRINGDB
Publication Statistics
PubMed Score  126.71

PubMed score by year
PubTator Score  62.69

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKH
1-70
QVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGY
70-140
SISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEK
140-210
KVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKS
210-280
SRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAA
280-350
EENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDG
350-420
GTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAA
420-490
ERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF
490-552
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWGSKEQLLLPKTITAEVHPVPLRKPKYDQGVEPELEPADDLDGGTEEQGEQDFRKYEEGFDPYSMFTPEQIMGKDVRLLRIKKEGSLDLALEGGVDSPIGKVVVSAVYERGAAERHGGIVKGDEIMAINGKIVTDYTLAEAEAALQKAWNQGGDWIDLVVAVCPPKEYDDELTFF