KIT

KIT proto-oncogene, receptor tyrosine kinase

Ensembl:
ENSG00000157404
UniProt:
P10721
OMIM:
164920
Synonyms:
C-KIT, CD117, PBT, SCFR

Cilia effects upon perturbation of KIT

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-3.33) 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:
renal cell carcinoma

Ciliopathy associations

  • Greig Cephalopolysyndactyly Syndrome

Subcellular localization

cilia associated gene, plasma membrane

Functional category

  • Metabolism

Function

Involvement of C-Kit receptor tyrosine kinase in the maintenance of ciliary epithelial neural stem cells: interaction with notch signaling(A.V. Das). GLI3 and KIT mutations had a synergistic, tumorigenic effect on the onset of mastocytosis in a Greig cephalopolysyndactyly syndrome mouse model (PMID: 34424959).

Model organism evidence

Drosophila (1 reference)

The Sperm Neck provides a stable connection between the sperm head and tail, which is critical for fertility in species with flagellated sperm.

PMIDs: 39700389