KIF7

kinesin family member 7

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000166813
UniProt:
Q2M1P5
OMIM:
611254
Synonyms:
JBTS12

Cilia effects upon perturbation of KIF7

Cilia number / % ciliated:
Unknown
Loss-of-function effect:
Longer cilia
Overexpression effect:
Unknown

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.72) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.78) PMID:29459680
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=198, lfc=0.96) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
Joubert syndrome

Ciliopathy associations

  • Acrocallosal Syndrome
  • Hydrolethalus Syndrome
  • Joubert Syndrome
  • Orofaciodigital Syndrome

References: PMID:21552264, PMID:22246503, PMID:21633164, PMID:26349186, PMID:25714560, PMID:26648833, PMID:23142271, PMID:23125460, PMID:26174511, PMID:39063141, PMID:36580738, PMID:20635334, PMID:40774045

Subcellular localization

cilia, ciliary tip

References: PMID:41005307, PMID:24981634, PMID:24952464, PMID:19592253, PMID:31031197

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Metabolism
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Negative regulator of Hedgehog signalling at cilia in mammals by controlling the activity of Gli and Sufu. Controls the localization of Hh signaling complexes through its ability to regulate the dynamics of microtubule plus- ends. It inhibits microtubule growth to regulate the length of axonemal at the ciliary tip and control cilia structure (24981634, 24952464, 19592253). A conserved non- motile kinesin, Kif7 defines a cilium-tip compartment by localizing to the distal ends of axonemal , preferentially binds GTP- tubulin at microtubule ends over GDP-tubulin in the mature microtubule lattice (31031197). Using Arl13b as a cilia marker 25, wild-type MEF cilia were 2.80±0.47 µm in length, whereas mutant cilia were 3.58±1.14 µm and 3.46±1.10 µm in Kif7L130P and Kif7−/− MEFs, respectively. Thus Kif7 mutant cilia were ~30% longer, on average, and more variable in length, than wild type (PMID: 24952464).