GEPHE SUMMARY Print
Gephebase Gene
Kit (type III receptor protein-tyrosine kinase)
Entry Status
Published
GepheID
GP00002207
Main curator
Martin
PHENOTYPIC CHANGE
Trait Category
Morphology
Trait
Coloration (coat)
Trait State in Taxon A
Arabian
Trait State in Taxon B
Arabian - white
Ancestral State
Taxon A
Taxonomic Status
Domesticated
Taxon A
Latin Name
Equus caballus
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
Equus () - (Rank: subgenus)
NCBI Taxonomy ID
9796
is Taxon A an Infraspecies?
No
Taxon B
Latin Name
Equus caballus
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
Parent
Equus () - (Rank: subgenus)
NCBI Taxonomy ID
9796
is Taxon B an Infraspecies?
No
GENOTYPIC CHANGE
Generic Gene Name
Kit
Synonyms
W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3; Sl
String
10090.ENSMUSP00000005815
Sequence Similarities
Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
GO - Molecular Function
GO:0004888 : transmembrane signaling receptor activity ... show more
GO - Biological Process
GO:0043066 : negative regulation of apoptotic process ... show more
GO - Cellular Component
GO:0005886 : plasma membrane ... show more
UniProtKB
Mus musculus
P05532
GenebankID or UniProtKB
Presumptive Null
No
Molecular Type
Coding
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
c.1597T>C p.C533R
Experimental Evidence
Candidate Gene
Taxon A Taxon B Position
Codon - - -
Amino-acid Cys Arg 533
Main Reference
Five novel KIT mutations in horses with white coat colour phenotypes. (2011)
Authors
Haase B; Rieder S; Tozaki T; Hasegawa T; Penedo MC; Jude R; Leeb T
Abstract
-
Additional References
RELATED GEPHE
Related Genes
13 (Agouti, Endothelin receptor B, MC1R, MFSD12, Microphtalmia-associated transcription factor, Pax3, PMEL17, SLC24A, SLC36A1, SLC45A2=MATP, syntaxin-17, T-box transcription factor (TBX3), TRPM1)
Related Haplotypes
28
EXTERNAL LINKS
COMMENTS
@AllelicSeries https://omia.org/OMIA000209/9796/
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