Usher Syndrome Protein 1C (USH1C)

AIE-75; DFNB18; NY-CO-37; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; Ush1cpst; Harmonin; Deafness,Autosomal Recessive 18; Autoimmune enteropathy-related antigen AIE-75

Usher Syndrome Protein 1C (USH1C)
USH1C contains an N-terminal domain followed by 2 PDZ domains; a coiled-coil region with a bipartite nuclear localization signal; a PEST degradation sequence; a third PDZ domain; and a C-terminal domain. PDZ73 also has an N-glycosylation site and 17 putative phosphorylation sites. One variant encodes a deduced 403-amino acid protein with a calculated molecular mass of about 45 kD. This variant lacks the C-terminal half of the full-length protein, including the PEST sequence, the third PDZ domain, and the C-terminal region. Another variant, which predominates in brain, encodes a putative 328-amino acid protein with a calculated molecular mass of about 37 kD. This variant lacks the N-terminal half of the full-length protein and begins with part of the coiled-coil domain.

Organism species: Homo sapiens (Human)

Organism species: Mus musculus (Mouse)

Organism species: Rattus norvegicus (Rat)