The gene immunoglobulin-like domain-containing receptor-1 (ILDR1) is mapped to human chromosome 3q13.33. ILDR1 is expressed in prostate, testis, pancreas, kidney, liver, and heart. The gene encodes three variants, two with membrane localization and one as cytoplasmic. The cytoplasmic variant is only detected in lymphoma samples.
Synonyms: Anti-Immunoglobulin-like domain-containing receptor 1 precursor
Storage: -20C
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Biochem Physiol Actions: Loss of function mutations in immunoglobulin-like domain-containing receptor-1 (ILDR1) leads to autosomal-recessive hearing impairment in humans. ILDR1 is present at the tricellular contacts of epithelial cells in mouse model. The protein is important for recruitment of tricellulin to tricellular contacts which helps in the establishment of a strong barrier of epithelium. However, ILDR1 is not significant for tricellulin recruitment in the auditory and vestibular sensory epithelia or in the stria vascularis, but is required for tricellilin retention and integrity of tricellular tight junctions which is essential for normal hearing. ILDR1 is expressed in cholecystokinin cells. It regulates the release of cholecystokinin gastrointestinal hormone in the presence of lipoproteins and intestinally absorbed fatty acids. ILDR1 is up-regulated in myelodysplastic syndrome, refractory anemia with excess blasts.
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