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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: 1) protein-protein interactions 2) interacts with HARP (putative) 3) interacts with USH1G/SANS, USH2A & SLC4A7 4) interacts with the C-terminus of USHBP1 via 1st PDZ domain 5) PDZ domain 1 mediates interactions with USH1G/SANS & SLC4A7 6) 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: a) Usher syndrome type 1C b) nonsyndromic recessive deafness (DFNB18)

Related

USH1C gene mutation

General

other protein

Properties

SIZE: MW = 62 kD entity length = 552 aa MOTIF: PDZ domain NAME: PDZ domain SITE: 87-169 PDZ domain NAME: PDZ domain SITE: 211-293 coiled coil {310-377} PDZ domain NAME: PDZ domain SITE: 452-537

Database Correlations

OMIM correlations MORBIDMAP 605242 UniProt Q9Y6N9 Pfam PF00595

References

  1. UniProt :accession Q9Y6N9
  2. Mutations of the USH1C gene Retina International's Scientific Newsletter http://www.retina-international.com/sci-news/ush1cmut.htm
  3. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=USH1C