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- Table of Contents
Facts about Harmonin.
As part of the intermicrovillar adhesion complex/IMAC plays a part in brush border differentiation, controlling microvilli organization and span. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B into the microvilli tips (PubMed:24725409, PubMed:26812018).
Human | |
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Gene Name: | USH1C |
Uniprot: | Q9Y6N9 |
Entrez: | 10083 |
Belongs to: |
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No superfamily |
AIE75; AIE-75; Antigen NY-CO-38/NY-CO-37; Autoimmune enteropathy-related antigen AIE-75; deafness, autosomal recessive 18; DFNB18; harmonin; NY-CO-37; NY-CO-38; PDZ-45; PDZ73; PDZ-73; PDZ-73/NY-CO-38; Protein PDZ-73; Renal carcinoma antigen NY-REN-3; ush1cpst; Usher syndrome 1C (autosomal recessive, severe); Usher syndrome type-1C protein
Mass (kDA):
62.211 kDA
Human | |
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Location: | 11p15.1 |
Sequence: | 11; NC_000011.10 (17493895..17544416, complement) |
Expressed in small intestine, colon, kidney, eye and weakly in pancreas. Expressed also in vestibule of the inner ear.
Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Cell projection, microvillus. 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).
PMID: 9610721 by Scanlan M.J., et al. Characterization of human colon cancer antigens recognized by autologous antibodies.
PMID: 10500064 by Kobayashi I., et al. Identification of an autoimmune enteropathy-related 75-kilodalton antigen.