harmonin (Usher syndrome type-1C protein, autoimmune enteropathy-related antigen AIE-75, antigen NY-CO-38/NY-CO-37, PDZ-73 protein, NY-REN-3 antigen, USH1C, AIE75)

Function

• protein-protein interactions
• interacts with HARP (putative)
• interacts with USH1G/SANS, USH2A & SLC4A7
• interacts with the C-terminus of USHBP1 via 1st PDZ domain
• PDZ domain 1 mediates interactions with USH1G/SANS & SLC4A7
• may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay

Structure

• contains 3 PDZ domains (DHR domains)

Alternative splicing

named isoforms=4

Expression

• expressed in small intestine, colon, kidney, eye & weakly in pancreas
• expressed in vestibule of the inner ear

Pathology

• defects in USH1C are the cause of:
  • Usher syndrome type 1C
  • nonsyndromic recessive deafness (DFNB18)

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/276900
• OMIM: https://mirror.omim.org/entry/276904
• OMIM: https://mirror.omim.org/entry/602092
• OMIM: https://mirror.omim.org/entry/605242
• UniProt: http://www.uniprot.org/uniprot/Q9Y6N9.html