KIAA1549
KIAA1549
- Ensembl:
- ENSG00000122778
- UniProt:
- Q9HCM3
- OMIM:
- 613344
Cilia effects upon perturbation of KIAA1549
- Cilia number / % ciliated:
- No effect
- Loss-of-function effect:
- No effect
Ciliogenesis screen results (1 screen)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Phenotypes
- Mouse phenotype:
- improved glucose tolerance, decreased locomotor activity, increased fasting circulating glucose level, decreased exploration in new environment, decreased grip strength, decreased total body fat amount, enlarged lymph nodes, decreased circulating triglyceride level
- Human ciliopathy phenotype:
- retinitis pigmentosa
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
- Transition zone
Function
Mutations are associated with Retinitis Pigmentosa (30120214). Kiaa1549 was found to localise at the connecting cilium of photoreceptor cells. Percentage of ciliated cells and average cilium length showed no significant difference … suggesting KIAA1549 does not have a function in the formation of cilia. (30120214)