Gene Information | |
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Gene Name | AIE75 |
Organism | Homo sapiens (Human) |
Gene Length | 552 |
Protein Names | Harmonin (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 Name | NA |
Target Type | NA |
Gene Age | NA |
Evolutionary Stage | NA |
AlphaFoldDB | Q9Y6N9 |
Gene Card | USH1C |
Uniprot ID | Q9Y6N9 |
Pfam | PF00595 |
In ASD | no |
Allosteric Prediction | NA |
Ortholog in Animals | NA |
Ohnologs | NA |
Paralogs | NA |
Tissue | NA |
Tissue Specificity | Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear. {ECO:0000269|PubMed:12588794}. |
Pharmacological Animal Models | NA |
Gene Ontology (biological process) |
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Gene Ontology (cellular component) |
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Gene Ontology (molecular function) |
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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 classification | NA |
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