IFT57 Antibody

1. sequencing of IFT57 in 13 OFDS subjects and 12 subjects with Ellis-Van Creveld syndrome was negative. This report identifies the implication of IFT57 in human pathology and highlights the first description of a ciliary transport defect in OFDS, extending the genetic heterogeneity of this subgroup of ciliopathies. PMID: 27060890
2. HIPPI-P53 interaction was necessary for HIPPI mediated up-regulation of Caspase1 gene. PMID: 21943362
3. novel transcription regulatory mechanism of REST by HIPPI may contribute to the deregulation of transcription observed in the cell model of Huntington disease. PMID: 21832040
4. Results show that pro-apoptotic Hippi-Hip-1 heterodimers can recruit procaspase-8 into a complex of Hippi, Hip-1 and procaspase-8, and launch apoptosis through components of the 'extrinsic' cell-death pathway. PMID: 11788820
5. critical for the death-promoting effects of mutant huntingtin protein in cultured cells PMID: 11807533
6. Hippi interacts with the viral death protein Apoptin. PMID: 12745083
7. Hippi expression induced apoptosis by releasing AIF and cytochrome c from mitochondria, activation of caspase-1 and caspase-3, and altering the expression of apoptotic genes and genes involved in mitochondrial complex I and II. PMID: 16364650
8. Crystals of the pDED of HIPPI were grown in space group P4(1), with unit-cell parameters a = b = 77.42, c = 33.31 A and a calculated Matthews coefficient of 1.88 A3 Da(-1) (33% solvent content) with two molecules per asymmetric unit. PMID: 17142908
9. In summary, we showed that HIPPI could interact with the putative promoter sequence of caspase-1 and increased the expression of the downstream gene suggesting that HIPPI could act as transcription regulator. PMID: 17173859
10. Over-expression of BLOC1S2 in presence or absence of HIPPI does not induce apoptosis. However, BLOC1S2 & HIPPI sensitize NCH89 glioblastoma cells to pro-apoptotic actions of staurosporine & death ligand TRAIL. PMID: 18188704

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HGNC: 17367

OMIM: 606621

KEGG: hsa:55081

STRING: 9606.ENSP00000264538

UniGene: Hs.412196