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IFT172
Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway. Belongs to the IFT172 family. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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| Protein type: Unknown function |
| Chromosomal Location of human Ortholog: 2p23.3 |
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Cellular Component:
axoneme; ciliary basal body; ciliary tip; cilium; intraciliary transport particle B; sperm cytoplasmic droplet; sperm midpiece; sperm principal piece
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Biological Process:
bone development; brain development; cilium assembly; cytoplasmic microtubule organization; dorsal/ventral pattern formation; embryonic camera-type eye morphogenesis; epidermis development; heart looping; hindgut development; intraciliary anterograde transport; intraciliary transport; keratinocyte proliferation; left/right axis specification; limb development; negative regulation of keratinocyte proliferation; negative regulation of smoothened signaling pathway; neural tube closure; non-motile cilium assembly; Notch signaling pathway; positive regulation of smoothened signaling pathway; protein processing; roof of mouth development; smoothened signaling pathway; spinal cord motor neuron differentiation
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Disease: Bardet-biedl Syndrome 20; Retinitis Pigmentosa 71; Short-rib Thoracic Dysplasia 10 With Or Without Polydactyly
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Reference #:
Q9UG01
(UniProtKB)
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Alt. Names/Synonyms: BBS20; DKFZp434A163; IF172; IFT172; intraflagellar transport 172; intraflagellar transport 172 homolog; intraflagellar transport 172 homolog (Chlamydomonas); Intraflagellar transport protein 172 homolog; KIAA1179; NPHP17; osm-1; RP71; selective LIM binding factor homolog; SLB; SRTD10; wim; wimple homolog
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Gene Symbols: IFT172
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Molecular weight:
197,576 Da
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Basal Isoelectric point:
5.78
Predict pI for various phosphorylation states
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