KIF1A
kinesin family member 1A
- Ensembl:
- ENSG00000130294
- UniProt:
- Q12756
- OMIM:
- 601255
- Synonyms:
- ATSV, C2ORF20, SPG30, UNC104
Cilia effects upon perturbation of KIF1A
- Cilia number / % ciliated:
- Unknown
- Loss-of-function effect:
- Unknown
- Overexpression effect:
- Unknown
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.03) 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:
- intellectual disability, autosomal dominant 9
Subcellular localization
basal body, lysosomes
Functional category
- Ciliary assembly/disassembly
- Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
- Actin & cytoskeleton regulation
- Metabolism
Function
Cells expressing KIF1A or KIF1B, the fusion protein, kinesin-3 motors, and was detected at the ciliary base but not within the cilium itself in ciliated RPE1 cells (28134340).
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