USH1C

Cilia effects upon perturbation of USH1C

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Ciliogenesis screen results (4 screens)

• Kim2016: Not Reported
• Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-8.02) PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
• Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:

decreased grip strength, increased circulating chloride level, limb grasping, trunk curl, impaired righting response, increased red blood cell distribution width, absent pin reflex, decreased total body fat amount, increased food intake, increased lean body mass, decreased circulating glucose level, increased circulating sodium level, increased bone mineral content, stereotypic behavior, decreased circulating amylase level, improved glucose tolerance

Human ciliopathy phenotype:

autosomal recessive nonsyndromic hearing loss 18A; hearing loss, autosomal recessive

Ciliopathy associations

• Usher Syndrome

References: PMID:35076463, PMID:35353227, PMID:25404053, PMID:30531642, PMID:12786748, PMID:11139240

Subcellular localization

cytosol

References: PMID:12588794, PMID:35997788

Functional category

• Ciliary assembly/disassembly
• Actin & cytoskeleton regulation
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutation are associated with Usher syndrome type 1c (16464467). Binds to myosin VIIa,cadherin 23 and F-actin (12588794).