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Kit
Gene Detail
 Symbol
Name
ID
Kit
kit oncogene
MGI:96677
Synonyms belly-spot, CD117, c-KIT, Dominant white spotting, Gsfsco1, Gsfsco5, Gsfsow3, SCO1, SCO5, SOW3, Steel Factor Receptor, Tr-kit
Feature Type protein coding gene
Genetic Map
Chromosome 5
39.55 cM
Detailed Genetic Map ± 1 cM


Mapping data(117)
Sequence Map
Chr5:75574916-75656722 bp, + strand
From VEGA annotation of GRCm38

  81807 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:187  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: tyrosine-protein kinase, CSF-1/PDGF receptor type
Gene Tree: Kit

Human
homologs
Human Homolog KIT, v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
NCBI Gene ID 3815
neXtProt AC  NX_P10721
Human Synonyms  CD117, C-Kit, PBT, SCFR
Human Chr (Location)  4q12; chr4:54657928-54740715 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human KIT
Mutations,
alleles, and
phenotypes
All mutations/alleles(150) : Chemically induced (ENU)(17) Chemically induced (other)(1) Gene trapped(39) Radiation induced(2) Spontaneous(70) Targeted(21)
Incidental mutations (data from Mutagenetix , APF )
 
Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hematopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.
 
Human Diseases Modeled Using Mouse Kit (2)    Alleles Annotated to Human Diseases(6)    Phenotype Images(13)
Interactions
Kit interacts with 322 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (116 annotations)
Process actin cytoskeleton reorganization, activation of MAPK activity, ...
Component acrosomal vesicle, cell-cell junction, ...
Function ATP binding, cytokine binding, ...
External Resources: FuncBase
Expression
Literature Summary: (170 records)
Data Summary: Results (950)    Tissues (506)    Images (234)
Theiler Stages: 1, 2, 3, 4, 5, 7, 9, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 68
RNA in situ 673
In situ reporter (knock in) 3
Northern blot 10
Western blot 4
RT-PCR 188
RNase protection 4
cDNA source data(218)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(296) Genomic(39) cDNA(228) Primer pair(21) Other(8)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000016671 (Evidence)
Ensembl Gene ModelENSMUSG00000005672 (Evidence)
Entrez Gene16590 (Evidence)
UniGene247073
DFCITC1572427, TC1588664, TC1593379, TC1596961
DoTSDT.101379609, DT.529646, DT.87057299
NIA Mouse Gene IndexU005697
EC2.7.10.1
PDB2O26
Consensus CDS ProjectCCDS51525.1
International Mouse Knockout Project StatusKit
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000016671 VEGA Gene Model | MGI Sequence Detail 81807 C57BL/6J ±  kb
transcript OTTMUST00000040350 VEGA | MGI Sequence Detail 5241 Not Applicable 
polypeptide OTTMUSP00000018029 VEGA | MGI Sequence Detail 987 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(4) UniProt(4)
Polymorphisms All PCR and RFLP(28) : PCR(3) RFLP(25) SNPs within 2kb(729 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR013098 Immunoglobulin I-set
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
InterPro IPR027263 Mast/stem cell growth factor receptor
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain
InterPro IPR008266 Tyrosine-protein kinase, active site
InterPro IPR020635 Tyrosine-protein kinase, catalytic domain
InterPro IPR016243 Tyrosine-protein kinase, CSF-1/PDGF receptor
InterPro IPR001824 Tyrosine-protein kinase, receptor class III, conserved site
Protein Ontology PR:000002065 mast/stem cell growth factor receptor
References (Earliest) J:2447 Little CC, et al., The occurrence of a dominant spotting mutation in the house mouse. Proc Natl Acad Sci U S A. 1937 Oct;23(10):535-537
(Latest) J:212200 Gomez-Pinilla PJ, et al., Mast cells play no role in the pathogenesis of postoperative ileus induced by intestinal manipulation. PLoS One. 2014;9(1):e85304
All references(1108)
Disease annotation references (6)
Other
accession IDs
MGD-MRK-11588, MGD-MRK-14609, MGD-MRK-15420, MGD-MRK-1672, MGD-MRK-9743, MGI:3530304, MGI:3530312, MGI:3530319

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/26/2014
MGI 5.19
The Jackson Laboratory