USH1G

Cilia effects upon perturbation of USH1G

Loss-of-function effect:

Shorter cilia

Ciliogenesis screen results (6 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
• Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.21) PMID:20393562
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.65) PMID:41160700

Ciliopathy associations

• Usher Syndrome

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Ciliopathy gene OMIM: 607696. Mutation are associated with Usher syndrome type 1g. Associates with harmonin and is involved in the functio l network formed through it (12588794). Required for outer segment differentiation, formation and mainte nce of reti and photoreceptor cell polarity. Scaffold protein in the USH network during ciliogenesis, as dysfunction leads to reti l degeneration (17923142). Form a complex with myomegalin, cooperating in the vesicle transport towards the ciliary base of photoreceptor cells (21767579). Interacts directly with IFT-B proteins, IFT20, IFT52, IFT57, and IFT74, ISHG1 may control the transport of these molecules to the ciliary base (31637240).