KIF1C
kinesin family member 1C
- Ensembl:
- ENSG00000129250
- UniProt:
- O43896
- OMIM:
- 603060
- Synonyms:
- SAX2, SPAX2, SPG58
Cilia effects upon perturbation of KIF1C
- Cilia number / % ciliated:
- Unknown
- Loss-of-function effect:
- Unknown
- Overexpression effect:
- Unknown
Ciliogenesis screen results (4 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
Phenotypes
- Human ciliopathy phenotype:
- spastic ataxia 2; autosomal recessive spastic ataxia
Subcellular localization
flagella
Functional category
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Metabolism
Function
KIF1C has localized in flagella.
Model organism evidence
Mus musculus (1 reference)
BACKGROUND: Male mating behavior of the nematode Caenorhabditis elegans offers an intriguing model to study the genetics of sensory behavior, cilia function, and autosomal dominant polycystic kidney disease (ADPKD).
PMIDs: 15753033
C. elegans (1 reference)
BACKGROUND: Male mating behavior of the nematode Caenorhabditis elegans offers an intriguing model to study the genetics of sensory behavior, cilia function, and autosomal dominant polycystic kidney disease (ADPKD).
PMIDs: 15753033