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Description for Protein USH1C

Usher syndrome 1C (autosomal recessive, severe)
7 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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 been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PDZ: Domain present in PSD-95, Dlg, and ZO-1/2.
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    None Available
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    PDZ domain containing protein 73 KD; AIE75; DFNB18; NY-CO-37; NY-CO-38; PDZ45; PDZ73/NY-CO-38; PDZ73 protein; Usher syndrome 1C protein; Autoimmune enteropathy related antigen AIE-75; Harmonin isoform b3; Deafness, autosomal recessive 18; Harmonin isoform a
    Approved Symbol:
    USH1C
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Deafness, neurosensory, autosomal recessive 18(Pd);
  • Usher syndrome, type Ic(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 09241 Entrez Gene ID: 10083 OMIM ID: 605242 Swissprot Accession: Q9Y6N9; Q7RTU8;