| Type | Description |
|---|---|
| Definition | intraflagellar transport 57 |
| Date | Results | Publications |
|---|---|---|
| 2017-07-08 10:46:00 | 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. | 27060890 |
| 2012-02-11 10:58:00 | HIPPI-P53 interaction was necessary for HIPPI mediated up-regulation of Caspase1 gene. | 21943362 |
| 2011-11-26 10:36:00 | novel transcription regulatory mechanism of REST by HIPPI may contribute to the deregulation of transcription observed in the cell model of Huntington disease. | 21832040 |
| 2010-01-21 00:00:00 | critical for the death-promoting effects of mutant huntingtin protein in cultured cells | 11807533 |
| 2010-01-21 00:00:00 | 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. | 18188704 |
| Type | IDs |
|---|---|
| Synonymous | ESRRBL1, HIPPI, MHS4R2, OFD18 |
| Gene |
UniProtKB-ID:
IFT57_HUMAN
UniprotKB:
Q9NWB7
UniParc:
UPI0000039E8B
EMBL:
AF139576,
BC011899,
BC009690,
AK001009,
CH471052,
AB014762,
CR457251,
AF245220
Ensembl:
ENSG00000114446
KO:
hsa:55081
|
| Nucleutide sequences |
EMBL-CDS:
AAH11899.1,
BAA91466.1,
AAK13588.1,
BAB87803.1,
AAK28373.1,
CAG33532.1,
AAH09690.2,
EAW79730.1
Ensembl_TRS:
ENST00000264538
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000264538
RefSeq:
NP_060480.1
|
| Others |
UniRef100:
UniRef100_Q9NWB7
UniRef90:
UniRef90_Q8BXG3
UniRef50:
UniRef50_Q8BXG3
UniGene:
Hs.412196
CCDS:
CCDS2951.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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