Immunoglobulin-like domain-containing receptor 1 (ILDR1)

Immunoglobulin-like domain-containing receptor 1 (ILDR1) is a single-pass type I transmembrane protein belonging to the immunoglobulin superfamily, involved in the assembly and maintenance of tricellular tight junctions (tTJs) in epithelial and endothelial cells. ILDR1 contains an extracellular Ig-like V-type domain, a transmembrane helix, and a cytoplasmic domain with cysteine- and arginine-rich regions. It is expressed in multiple tissues including the prostate, testis, pancreas, kidney, heart, liver, and within hormone-producing intestinal cells. ILDR1 is essential for maintaining the structural and functional integrity of tight junctions and the survival of cochlear hair cells, underpinning its critical role in normal hearing and epithelial barrier homeostasis. Mutations in the ILDR1 gene cause autosomal recessive DFNB42 deafness due to degeneration of cochlear outer hair cells. In the kidney, ILDR1 controls paracellular water transport at tricellular contacts, with knockout leading to urine concentrating defects and polyuria. ILDR1 also regulates intestinal CCK secretion in response to dietary fats. There is evidence it modulates susceptibility to certain viral infections (e.g., influenza A) by regulating host antiviral pathways. ILDR1 is also observed as a candidate biomarker of cancer progression and may be overexpressed in myelodysplastic syndromes[1][2][3][4][5][6].

Other names

Angulin-2MGC50831DFNB42ILDR1alphaILDR1betaimmunoglobulin-like domain-containing receptor 1 alphaimmunoglobulin-like domain-containing receptor 1 beta