Identity
HGNC
LOCATION
3q13.12
LOCUSID
ALIAS
ESRRBL1,HIPPI,MHS4R2,OFD18
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55081
MIM: 606621
HGNC: 17367
Ensembl: ENSG00000114446
Variants:
dbSNP: 55081
ClinVar: 55081
TCGA: ENSG00000114446
COSMIC: IFT57
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000114446 | ENST00000264538 | Q9NWB7 |
| ENSG00000114446 | ENST00000478157 | F8WBM2 |
| ENSG00000114446 | ENST00000492106 | C9JB84 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 27060890 | 2016 | Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. | 13 |
| 27060890 | 2016 | Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. | 13 |
| 21832040 | 2011 | Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI). | 13 |
| 21943362 | 2011 | Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation. | 8 |
| 21832040 | 2011 | Regulation of RE1 protein silencing transcription factor (REST) expression by HIP1 protein interactor (HIPPI). | 13 |
| 21943362 | 2011 | Genome wide gene expression regulation by HIP1 Protein Interactor, HIPPI: prediction and validation. | 8 |
| 18188704 | 2008 | BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis. | 10 |
| 18188704 | 2008 | BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis. | 10 |
| 17173859 | 2007 | Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo. | 6 |
| 17173859 | 2007 | Interaction of HIPPI with putative promoter sequence of caspase-1 in vitro and in vivo. | 6 |
| 16364650 | 2006 | Induction of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin-interacting protein Hip1. | 8 |
| 17142908 | 2006 | Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1. | 1 |
| 16364650 | 2006 | Induction of apoptosis in cells expressing exogenous Hippi, a molecular partner of huntingtin-interacting protein Hip1. | 8 |
| 17142908 | 2006 | Cloning, expression, purification, crystallization and preliminary crystallographic analysis of pseudo death-effector domain of HIPPI, a molecular partner of Huntingtin-interacting protein HIP-1. | 1 |
| 12745083 | 2003 | The viral death protein Apoptin interacts with Hippi, the protein interactor of Huntingtin-interacting protein 1. | 11 |
Citation
Dessen P
IFT57 (intraflagellar transport 57)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56088/gene-fusions-explorer/gene-explorer/
