IFT57 cDNA ORF clone, Homo sapiens(human)

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.
Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel AL, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivi?re JB, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C
Clinical genetics90(6)509-517(2016 Dec)

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.
Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y, van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ, Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ, Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B, Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM, Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E, Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ, Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U, Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB, Roepman R,
Nature communications711491(2016 May)

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease.
Butland SL, Sanders SS, Schmidt ME, Riechers SP, Lin DT, Martin DD, Vaid K, Graham RK, Singaraja RR, Wanker EE, Conibear E, Hayden MR
Human molecular genetics23(15)4142-60(2014 Aug)

Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation.
Datta M, Choudhury A, Lahiri A, Bhattacharyya NP
BMC genomics12463(2011 Sep)

Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).
Datta M, Bhattacharyya NP
The Journal of biological chemistry286(39)33759-69(2011 Sep)

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.
Title: Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.

HIPPI-P53 interaction was necessary for HIPPI mediated up-regulation of Caspase1 gene.
Title: Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation.

novel transcription regulatory mechanism of REST by HIPPI may contribute to the deregulation of transcription observed in the cell model of Huntington disease.
Title: Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).

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.
Title: BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.

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.
Title: Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo.