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; 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)		4q11-q12; chr4:55524095-55606881 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human KIT

Alleles and phenotypes

All alleles(145) : Targeted(17) Gene trapped(39) Spontaneous(70) Chemically induced(17) Radiation induced(2)
 

Mutations at this locus affect migration of embryonic stem cell populations, resulting in mild to severe impairments in hemopoiesis, and pigmentation. Some alleles are homozygous lethal, sterile, or result in the formation of gastrointestinal tumors.

 
Human Diseases Modeled Using Mouse Kit (1)    Alleles Annotated to Human Diseases(5)    Phenotype Images(9)

Gene Ontology (GO) classifications

All GO classifications: (113 annotations)

Process	actin cytoskeleton reorganization, activation of MAPK activity, ...
Component	acrosomal vesicle, cell surface, ...
Function	ATP binding, cytokine binding, ...

External Resources: FuncBase

Expression

Literature Summary: (154 records)
Data Summary: Results (858)    Tissues (415)    Images (232)
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, 28

Assay Type	Results
Immunohistochemistry	63
RNA in situ	587
Northern blot	10
RT-PCR	194
RNase protection	4

cDNA source data(209)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(287) Genomic(39) cDNA(219) Primer pair(21) Other(8)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000016671 (Evidence)
Ensembl Gene Model	ENSMUSG00000005672 (Evidence)
Entrez Gene	16590 (Evidence)
UniGene	247073
DFCI	TC1572427, TC1588664, TC1593379, TC1596961
DoTS	DT.101379609, DT.529646, DT.87057299
NIA Mouse Gene Index	U005697
EC	2.7.10.1
PDB	2O26
Consensus CDS Project	CCDS51525.1
International Mouse Knockout Project Status	Kit

Sequences

Length	Strain/Species
genomic	OTTMUSG00000016671	VEGA Gene Model | MGI Sequence Detail	81807	C57BL/6J
transcript	OTTMUST00000040350	VEGA | MGI Sequence Detail	5241	Not Applicable
polypeptide	OTTMUSP00000018029	VEGA | MGI Sequence Detail	987	Not Applicable

All sequences(54) RefSeq(4) UniProt(4)

Polymorphisms

All PCR and RFLP(28) : PCR(3) RFLP(25) SNPs(620 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:195933 Feng ZC, et al., Downregulation of Fas activity rescues early onset of diabetes in c-Kit(Wv/+) mice. Am J Physiol Endocrinol Metab. 2013 Mar 15;304(6):E557-65
All references(1023)

Other accession IDs

MGD-MRK-11588, MGD-MRK-14609, MGD-MRK-15420, MGD-MRK-1672, MGD-MRK-9743, MGI:3530304, MGI:3530312, MGI:3530319