KIF1B
kinesin family member 1B
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000054523
- UniProt:
- O60333
- OMIM:
- 605995
- Synonyms:
- CMT2, CMT2A, HMSNII, KIAA0591, KLP
Cilia effects upon perturbation of KIF1B
- Cilia number / % ciliated:
- Unknown
- Loss-of-function effect:
- Unknown
- Overexpression effect:
- Unknown
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Increased Signaling (Negative Regulator) PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- hemorrhage, hyperactivity, abnormal embryo size, decreased blood urea nitrogen level, abnormal outer ear morphology, increased startle reflex, increased vertical activity, unresponsive to tactile stimuli, decreased thigmotaxis, preweaning lethality, complete penetrance, increased circulating chloride level, increased mean corpuscular hemoglobin concentration, abnormal limb morphology, decreased exploration in new environment, increased circulating sodium level
Subcellular localization
basal body
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).