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MGP005369

UniProt Annotations

Entry Information
Gene Nameintraflagellar transport 57
Protein EntryIFT57_HUMAN
UniProt IDQ9NWB7
SpeciesHuman
Comments
Comment typeDescription
DomainThe pseudo DED region (pDED) meadiates the interaction with HIP1.
FunctionRequired 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:0000269|PubMed:11788820, ECO:0000269|PubMed:17107665, ECO:0000269|PubMed:17623017}.
InteractionQ6QNY1:BLOC1S2; NbExp=3; IntAct=EBI-725672, EBI-465872; Q8IUH5:ZDHHC17; NbExp=2; IntAct=EBI-725672, EBI-524753;
SimilarityBelongs to the IFT57 family. {ECO:0000305}.
Subcellular LocationCytoplasm, cytoskeleton, cilium basal body {ECO:0000250}. Note=Concentrates within the inner segment of cilia. {ECO:0000250}.
SubunitComponent of the IFT complex B, at least composed of IFT20, IFT22, HSPB11/IFT25, IFT27, IFT46, IFT52, TRAF3IP1/IFT54, IFT57, IFT74, IFT80, IFT81, and IFT88. Interacts with IFT20 and IFT88. Interacts with BLOC1S2 and RYBP. Interacts with HOMER1, possibly preventing pro-apoptotic effects of IFT57 (By similarity). Interacts with HIP1. In normal conditions, it poorly interacts with HIP1, HIP1 being strongly associated with HTT. However, in mutant HTT proteins with a long poly-Gln region, interaction between HTT and HIP1 is inhibited, promoting the interaction between HIP1 and IFT57, leading to apoptosis. Interacts with BFAR. Interacts with chicken anemia virus protein apoptin. {ECO:0000250, ECO:0000269|PubMed:11788820, ECO:0000269|PubMed:12745083, ECO:0000269|PubMed:14502241}.
Tissue SpecificityPresent in many tissues such as brain, thymus, lymph node, lung, liver, skin and kidney (at protein level). {ECO:0000269|PubMed:11788820}.
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