IFT57 (intraflagellar transport 57)

2016-10-01  

Identity

HGNC
LOCATION
3q13.12
LOCUSID
ALIAS
ESRRBL1,HIPPI,MHS4R2,OFD18
FUSION GENES

Other Information

Locus ID:

NCBI: 55081
MIM: 606621
HGNC: 17367
Ensembl: ENSG00000114446

Variants:

dbSNP: 55081
ClinVar: 55081
TCGA: ENSG00000114446
COSMIC: IFT57

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114446ENST00000264538Q9NWB7
ENSG00000114446ENST00000478157F8WBM2
ENSG00000114446ENST00000492106C9JB84

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Intraflagellar transportREACTOMER-HSA-5620924
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117888202002Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partner Hippi.73
218320402011Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI).9
181887042008BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis.8
127450832003The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1.7
163646502006Induction of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin-interacting protein Hip1.6
219433622011Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation.6
171738592007Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo.5
270608902016Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.4
118075332002Accomplices to neuronal death.3
171429082006Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1.1

Citation

Dessen P

IFT57 (intraflagellar transport 57)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56088/ift57