Gene Information
Gene NameAIE75
OrganismHomo sapiens (Human)
Gene Length552
Protein NamesHarmonin (Antigen NY-CO-38/NY-CO-37) (Autoimmune enteropathy-related antigen AIE-75) (Protein PDZ-73) (Renal carcinoma antigen NY-REN-3) (Usher syndrome type-1C protein)
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBQ9Y6N9
Gene CardUSH1C
Uniprot IDQ9Y6N9
PfamPF00595
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityExpressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. {ECO:0000269|PubMed:12588794}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB 1X5N  (NMR  2KBQ  (NMR  2KBR  (NMR  2KBS  (NMR  2LSR  (NMR  3K1R  (X-ray  2.30A  5F3X  (X-ray  2.65A  5MV8  (X-ray  1.88A  5MV9  (X-ray  2.60A  5XBF  (X-ray  1.80A  7X2E  (X-ray  1.85A 
DBSNP rs1064074 
Subcellular location [CC]Cytoplasm, cytosol {ECO:0000269|PubMed:20142502}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19297620, ECO:0000269|PubMed:21709241}. Cell projection, microvillus {ECO:0000269|PubMed:24725409}. Note=Colocalizes with F-actin (By similarity). Detected at the tip of cochlear hair cell stereocilia (By similarity). Enriched in microvilli of the intestinal brush border (PubMed:24725409). {ECO:0000250|UniProtKB:Q9ES64, ECO:0000269|PubMed:24725409}.
Mouse PG classificationNA
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