KIF1A

kinesin family member 1A

Tier: Gold Standard Ciliary Genes

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

References: PMID:28134340

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).