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Literature summary for 2.7.10.1 extracted from

  • Nocka, K.; Tan, J.C.; Chiu, E.; Chu, T.Y.; Ray, P.; Traktman, P.; Besmer, P.
    Molecular bases of dominant negative and loss of function mutations at the murine c-kit/white spotting locus: W37, Wv, W41 and W (1990), EMBO J., 9, 1805-1813.
    View publication on PubMedView publication on EuropePMC
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Protein Variants

Protein Variants Comment Organism
additional information mutations at the W locus affect various aspects of hematopoiesis, the proliferation and migration of primordial germ cells and melanoblasts during development. The original W mutation and W37 are severe lethal mutations when homozygous. In the heterozygous state the W mutation has a weak phenotype while W37 has dominant characteristics. Wv and W41 are weak W mutations with dominant characteristics. W37, Wv and W41 are the result of missense mutations in the kinase domain of the c-kit coding sequence, E582K in W37, T660M in Wv, V831M in W41, which affect the c-kit associated tyrosine kinase to varying degrees Mus musculus
additional information the W42 mutation has a particularly severe effect in both the homozygous and the heterozygous states. The c-kit protein products in homozygous mutant mast cells are expressed normally but display a defective tyrosine kinase activity in vitro. Missense mutation D790N in the c-kit protein product, D790 is a conserved residue in all protein kinases Mus musculus

Localization

Localization Comment Organism GeneOntology No. Textmining
membrane transmembrane tyrosine protein kinase receptor Mus musculus 16020
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Organism

Organism UniProt Comment Textmining
Mus musculus P05532
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Synonyms

Synonyms Comment Organism
mast/stem cell growth factor receptor
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 Mus musculus