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Intraflagellar transport complex subunit (preferably IFT-A complex protein or specific subunit, e.g., Intraflagellar transport 122 protein, if context allows) (IFT-A (or specific subunit abbreviation, e.g., IFT122), not IFTAP)
- Target
- IFT-A (or specific subunit abbreviation, e.g., IFT122), not IFTAP
- Molecular classification
- Other (molecular complexes; specifically, multi-protein complexes associated with intracellular transport), Not a receptor, ion channel, enzyme, or transcription factor, IFT-A complex member, in some contexts specifically mapped to “C11orf74”/HEPIS, but this mapping is weak based on current knowledge
01
Overview
Intraflagellar transport complexes, particularly the IFT-A and IFT-B complexes, are critical for moving cargo along the axonemal microtubules of cilia. These complexes, comprised of multiple subunits—including proteins such as IFT122, IFT140, and IFT144—mediate bidirectional transport required for cilia assembly, maintenance, and signaling. Mutations in these components cause ciliopathies, multisystem genetic diseases. While “C11orf74” (also called HEPIS or NWC) is mentioned as a possible intraflagellar transport-associated protein, it is not a canonical member of the IFT-A complex and its biological significance in humans remains uncharacterized.
- Other names
- IFTAPC11orf74NWCFLJ38678HEPISProtein HEPISuncharacterized protein C11orf74intraflagellar transport-associated proteinprotein C11orf74
02
Mechanism of action
Not applicable; no drugs are known to directly target this molecule.
03
Biological functions
Cilia assembly and maintenanceIntracellular transport (anterograde and retrograde cargo transport within cilia/flagella)Regulation of cilia-dependent signaling pathways (e.g., Hedgehog signaling, GPCR and ion channel targeting to cilia)
04
Disease associations
Ciliopathies (human genetic diseases arising from defects in cilia function, including kidney/liver disease, retinal degeneration, bone development disorders)Possible links to developmental defects via cilia malfunction
05
Safety considerations
Genetic defects result in developmental abnormalities; loss-of-function in essential ciliary proteins is not a therapeutic strategy
06
Biomarkers
Mutations in IFT-A subunits can serve as genetic markers for ciliopathies, but C11orf74/HEPIS is not commonly used as a biomarker
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