Disease relevance of KIAA1199

• Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss [1].
• Interestingly, an immortal fibroblast cell line and two breast cancer cell lines expressed much lower amounts of KIAA1199 mRNA than their normal counterparts [2].

High impact information on KIAA1199

• Northern blot and RT-PCR analyses revealed striking upregulation of KIAA1199 mRNA in mortal RCC23+3 compared with immortal RCC23 [2].
• However, no significant change in KIAA1199 mRNA expression was observed during replicative aging in vitro (from early passage culture to senescent culture) of mortal human cells including RCC23+3, normal fibroblasts and prostate epithelial cells [2].
• We report three possibly disease-causing point mutations in one of the inner-ear-specific genes, KIAA1199 [1].
• In situ hybridization indicated that the murine homolog of KIAA1199 mRNA is expressed specifically in Deiters' cells in the organ of Corti at postnatal day zero (P n) P0 before the onset of hearing, but expression in those cells disappears by day P7 [1].
• The signal of KIAA1199 was also observed in fibrocytes of the spiral ligament and the spiral limbus through to P21, when the murine cochlea matures [1].

Biological context of KIAA1199

• Upregulation of the KIAA1199 gene is associated with cellular mortality [2].

Associations of KIAA1199 with chemical compounds

• Genes downregulated by increased fetal lung expansion included CCSP-related protein-1, elongation factor-1alpha and vitamin D3 upregulated protein 1 [3].

Other interactions of KIAA1199

• We report a novel protein domain-G8-which contains five repeated beta-strand pairs and is present in some disease-related proteins such as PKHD1, KIAA1199, TMEM2 as well as other uncharacterized proteins [4].

References