IFT57 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_1905515Biological processnon-motile cilium assembly
GO_0060271Biological processcilium assembly
GO_0006919Biological processactivation of cysteine-type endopeptidase activity involved in apoptotic process
GO_0007224Biological processsmoothened signaling pathway
GO_0001947Biological processheart looping
GO_0044458Biological processmotile cilium assembly
GO_0010839Biological processnegative regulation of keratinocyte proliferation
GO_0042981Biological processregulation of apoptotic process
GO_0001843Biological processneural tube closure
GO_0006915Biological processapoptotic process
GO_0035720Biological processintraciliary anterograde transport
GO_0042073Biological processintraciliary transport
GO_0043616Biological processkeratinocyte proliferation
GO_0032391Cellular componentphotoreceptor connecting cilium
GO_0005813Cellular componentcentrosome
GO_0030992Cellular componentintraciliary transport particle B
GO_0005794Cellular componentGolgi apparatus
GO_0044292Cellular componentdendrite terminus
GO_0005930Cellular componentaxoneme
GO_0097542Cellular componentciliary tip
GO_0005929Cellular componentcilium
GO_0097546Cellular componentciliary base
GO_0036064Cellular componentciliary basal body
GO_0003677Molecular functionDNA binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameIFT57
Protein nameIntraflagellar transport protein 57 homolog (Dermal papilla-derived protein 8) (Estrogen-related receptor beta-like protein 1) (HIP1-interacting protein) (MHS4R2)
Intraflagellar transport protein 57 homolog
SynonymsHIPPI
DERP8
ESRRBL1
DescriptionFUNCTION: 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. .

AccessionsC9JB84
F8WBM2
ENST00000264538.4
ENST00000478157.1
ENST00000492106.1
Q9NWB7