IFT140
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: Adaptor/scaffold |
Chromosomal Location of human Ortholog: 16p13.3 |
Cellular Component:
axoneme; centriole; centrosome; ciliary basal body; ciliary tip; cilium; cone photoreceptor outer segment; intraciliary transport particle A; photoreceptor connecting cilium
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Molecular Function:
protein binding
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Biological Process:
cilium assembly; determination of left/right symmetry; embryonic brain development; embryonic camera-type eye development; embryonic cranial skeleton morphogenesis; embryonic digit morphogenesis; heart development; intraciliary retrograde transport; neural tube patterning; non-motile cilium assembly; photoreceptor cell outer segment organization; protein localization to cilium; regulation of cilium assembly; regulation of smoothened signaling pathway
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Disease: Retinitis Pigmentosa 80; Short-rib Thoracic Dysplasia 9 With Or Without Polydactyly
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Reference #:
Q96RY7
(UniProtKB)
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Alt. Names/Synonyms: c305C8.4; c380F5.1; DKFZp564L232; FLJ10306; FLJ30571; gs114; IF140; IFT140; intraflagellar transport 140; intraflagellar transport 140 homolog; intraflagellar transport 140 homolog (Chlamydomonas); Intraflagellar transport protein 140 homolog; KIAA0590; MZSDS; RP80; SRTD9; WD and tetratricopeptide repeats 2; WD and tetratricopeptide repeats protein 2; WDTC2
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Gene Symbols: IFT140
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Molecular weight:
165,193 Da
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Basal Isoelectric point:
5.69
Predict pI for various phosphorylation states
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