InnateDB Protein
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IDBP-48842.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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IFT57
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Protein Name
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intraflagellar transport 57 homolog (Chlamydomonas)
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000264538
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InnateDB Gene
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IDBG-48840 (IFT57)
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Protein Structure
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Function |
Required for the formation of cilia. Plays an indirect role in sonic hedgehog signaling, cilia being required for all activity of the hedgehog pathway (By similarity). Has pro- apoptotic function via its interaction with HIP1, leading to recruit caspase-8 (CASP8) and trigger apoptosis. Has the ability to bind DNA sequence motif 5'-AAAGACATG-3' present in the promoter of caspase genes such as CASP1, CASP8 and CASP10, suggesting that it may act as a transcription regulator; however the relevance of such function remains unclear. {ECO:0000250, ECO:0000269PubMed:11788820, ECO:0000269PubMed:17107665, ECO:0000269PubMed:17623017}.
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Subcellular Localization |
Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Concentrates within the inner segment of cilia. {ECO:0000250}.
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Disease Associations |
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Tissue Specificity |
Present in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). {ECO:0000269PubMed:11788820}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated |
Total |
9
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR010989
t-SNARE
IPR019530
Intra-flagellar transport protein 57
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PFAM |
PF10498
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9NWB7
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PhosphoSite |
PhosphoSite-Q9NWB7
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
55081
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UniGene |
Hs.605919
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RefSeq |
NP_060480
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HUGO |
HGNC:17367
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OMIM |
606621
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CCDS |
CCDS2951
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HPRD |
09430
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IMGT |
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EMBL |
AB014762
AF139576
AF245220
AK001009
BC009690
BC011899
CH471052
CR457251
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GenPept |
AAH09690
AAH11899
AAK13588
AAK28373
BAA91466
BAB87803
CAG33532
EAW79730
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