IFT57
IFT57 (Intraflagellar Transport 57) is a Protein Coding gene. Diseases associated with IFT57 include Huntington Disease and Bardet-Biedl Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.
Full Name
Intraflagellar transport protein p57/55
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.
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.
Biological Process
Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: MGI
Apoptotic process Source: MGI
Heart looping Source: Ensembl
Intraciliary transport Source: GO_Central
Left/right pattern formation Source: Ensembl
Motile cilium assembly Source: Ensembl
Negative regulation of epithelial cell proliferation Source: Ensembl
Neural tube closure Source: Ensembl
Non-motile cilium assembly Source: GO_Central
Regulation of apoptotic process Source: MGI
Smoothened signaling pathway Source: Ensembl
Apoptotic process Source: MGI
Heart looping Source: Ensembl
Intraciliary transport Source: GO_Central
Left/right pattern formation Source: Ensembl
Motile cilium assembly Source: Ensembl
Negative regulation of epithelial cell proliferation Source: Ensembl
Neural tube closure Source: Ensembl
Non-motile cilium assembly Source: GO_Central
Regulation of apoptotic process Source: MGI
Smoothened signaling pathway Source: Ensembl
Cellular Location
Cilium basal body. Concentrates within the inner segment of cilia.
Involvement in disease
Orofaciodigital syndrome 18 (OFD18):
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD18 is an autosomal recessive form characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features.
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Anti-IFT57 antibodies
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Target: IFT57
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 3G4
Application*: WB, E
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYY-I2096
Application*: WB, IH
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYY-I1997
Application*: WB, IH, IF
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBYY-I1948
Application*: WB, IF
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 5B6
Application*: P, WB
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 4F6
Application*: IF, P, WB
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 2G3
Application*: IF, IH, WB
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: 1H2
Application*: IF, WB
Target: IFT57
Host: Mouse
Antibody Isotype: IgG2a, κ
Specificity: Human
Clone: 1G8
Application*: E, WB
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Human
Clone: CBFYH-2579
Application*: IF, IH, P, WB
Target: IFT57
Host: Mouse
Antibody Isotype: IgG1
Specificity: Chlamydomonas
Clone: IFT57.1
Application*: WB
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For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
- AActivation
- AGAgonist
- APApoptosis
- BBlocking
- BABioassay
- BIBioimaging
- CImmunohistochemistry-Frozen Sections
- CIChromatin Immunoprecipitation
- CTCytotoxicity
- CSCostimulation
- DDepletion
- DBDot Blot
- EELISA
- ECELISA(Cap)
- EDELISA(Det)
- ESELISpot
- EMElectron Microscopy
- FFlow Cytometry
- FNFunction Assay
- GSGel Supershift
- IInhibition
- IAEnzyme Immunoassay
- ICImmunocytochemistry
- IDImmunodiffusion
- IEImmunoelectrophoresis
- IFImmunofluorescence
- IGImmunochromatography
- IHImmunohistochemistry
- IMImmunomicroscopy
- IOImmunoassay
- IPImmunoprecipitation
- ISIntracellular Staining for Flow Cytometry
- LALuminex Assay
- LFLateral Flow Immunoassay
- MMicroarray
- MCMass Cytometry/CyTOF
- MDMeDIP
- MSElectrophoretic Mobility Shift Assay
- NNeutralization
- PImmunohistologyp-Paraffin Sections
- PAPeptide Array
- PEPeptide ELISA
- PLProximity Ligation Assay
- RRadioimmunoassay
- SStimulation
- SESandwich ELISA
- SHIn situ hybridization
- TCTissue Culture
- WBWestern Blot
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