KIF1B

kinesin family member 1B

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
Mouse ciliopathy phenotype:
abnormal facial morphology, abnormal head shape

Subcellular localization

basal body

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 (2 references)

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).

The function of members of the dynein superfamily whose existence has previously only been confirmed through genome databases, has been revealed by studies of immotile cilia syndrome.

PMIDs: 15753033, 14559185

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