Kit KIT proto-oncogene receptor tyrosine kinase [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kitprovided by MGI
Official Full Name: KIT proto-oncogene receptor tyrosine kinaseprovided by MGI
Primary source: MGI:MGI:96677
See related: Ensembl:ENSMUSG00000005672 AllianceGenome:MGI:96677
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: W; Bs; Fdc; Ssm; SCO1; SCO5; SOW3; CD117; c-KIT; Tr-kit; Gsfsco1; Gsfsco5; Gsfsow3
Summary: The c-Kit proto-oncogene is the cellular homolog of the transforming gene of a feline retrovirus (v-Kit). The c-kit protein includes characteristics of a protein kinase transmembrane receptor. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Broad expression in lung adult (RPKM 39.0), cerebellum adult (RPKM 19.6) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.3; 5 39.55 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (75735647..75817382)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (75574987..75656722)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Kit Ligand and Kit receptor tyrosine kinase sustain synaptic inhibition of Purkinje cells.
Title: Kit Ligand and Kit receptor tyrosine kinase sustain synaptic inhibition of Purkinje cells.
Age-related liver endothelial zonation triggers steatohepatitis by inactivating pericentral endothelium-derived C-kit.
Title: Age-related liver endothelial zonation triggers steatohepatitis by inactivating pericentral endothelium-derived C-kit.
JNK signaling during IL-3-mediated differentiation contributes to the c-kit-potentiated allergic inflammatory capacity of mast cells.
Title: JNK signaling during IL-3-mediated differentiation contributes to the c-kit-potentiated allergic inflammatory capacity of mast cells.
Endothelial cell-derived stem cell factor promotes lipid accumulation through c-Kit-mediated increase of lipogenic enzymes in brown adipocytes.
Title: Endothelial cell-derived stem cell factor promotes lipid accumulation through c-Kit-mediated increase of lipogenic enzymes in brown adipocytes.
Lung-specific MCEMP1 functions as an adaptor for KIT to promote SCF-mediated mast cell proliferation.
Title: Lung-specific MCEMP1 functions as an adaptor for KIT to promote SCF-mediated mast cell proliferation.
Low c-Kit expression identifies primitive, therapy-resistant CML stem cells.
Title: Low c-Kit expression identifies primitive, therapy-resistant CML stem cells.
Effect of miR-129-3p on autophagy of interstitial cells of Cajal in slow transit constipation through SCF C-kit signaling pathway.
Title: Effect of miR-129-3p on autophagy of interstitial cells of Cajal in slow transit constipation through SCF C-kit signaling pathway.
A truncated derivative of FGFR1 kinase cooperates with FLT3 and KIT to transform hematopoietic stem cells in syndromic and de novo AML.
Title: A truncated derivative of FGFR1 kinase cooperates with FLT3 and KIT to transform hematopoietic stem cells in syndromic and de novo AML.
'Youthful' phenotype of c-Kit(+) cardiac fibroblasts.
Title: 'Youthful' phenotype of c-Kit(+) cardiac fibroblasts.
Differentiation of fetal hematopoietic stem cells requires ARID4B to restrict autocrine KITLG/KIT-Src signaling.
Title: Differentiation of fetal hematopoietic stem cells requires ARID4B to restrict autocrine KITLG/KIT-Src signaling.

Submit: New GeneRIF Correction See all GeneRIFs (297)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (72) 1 citation
Chemically induced (other) (1)
Radiation induced (2) 1 citation
Targeted (34) 1 citation
Chemically induced (ENU) (19) 1 citation
Endonuclease-mediated (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Kit (e-PCR), detects polymorphism
- UniSTS:463363

Kit (e-PCR), detects polymorphism
- UniSTS:463364

Kit (e-PCR), detects polymorphism
- UniSTS:226054

Kit (e-PCR), detects polymorphism
- UniSTS:233997

Kit (e-PCR), detects polymorphism
- UniSTS:265230

Kit (e-PCR), detects polymorphism
- UniSTS:527400

UniSTS:498239 (e-PCR)
- UniSTS:498239

Kit (e-PCR), detects polymorphism
- UniSTS:498239

Kit (e-PCR), detects polymorphism
- UniSTS:259397

Kit (e-PCR), detects polymorphism
- UniSTS:143694

Kit (e-PCR), detects polymorphism
- UniSTS:532303

Kit (e-PCR), detects polymorphism
- UniSTS:143695

Kit (e-PCR), detects polymorphism
- UniSTS:525711

Kit (e-PCR), detects polymorphism
- UniSTS:496537

Kit (e-PCR), detects polymorphism
- UniSTS:256947

Kit (e-PCR), detects polymorphism
- UniSTS:256444

Kit (e-PCR), detects polymorphism
- UniSTS:527042

Y00864 (e-PCR)
- UniSTS:179184

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables SH2 domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine binding	ISO Inferred from Sequence Orthology more info
enables growth factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables kinase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info
enables stem cell factor receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables transferase activity	IEA Inferred from Electronic Annotation more info
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane receptor protein tyrosine kinase activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in Fc receptor signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in Kit signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in Kit signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in cell chemotaxis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell differentiation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chemotaxis	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cytokine-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in detection of mechanical stimulus involved in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within developmental pigmentation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in digestive tract development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ectopic germ cell programmed cell death	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of ectopic germ cell programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in erythrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_negative_effect erythrocyte differentiation	TAS Traceable Author Statement more info	PubMed
involved_in erythropoietin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within germ cell development	TAS Traceable Author Statement more info	PubMed
involved_in germ cell migration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycosphingolipid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in hematopoietic progenitor cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within hematopoietic stem cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hemopoiesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immature B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in lamellipodium assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lymphoid progenitor cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mast cell chemotaxis	ISO Inferred from Sequence Orthology more info
involved_in mast cell degranulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within mast cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mast cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mast cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in megakaryocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanocyte adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in melanocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanocyte migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within myeloid progenitor cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of developmental process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of programmed cell death	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of programmed cell death	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of reproductive process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ovarian follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within phosphorylation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within pigmentation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of MAP kinase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of MAP kinase activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of MAPK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of Notch signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of colon smooth muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of dendritic cell cytokine production	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of long-term neuronal synaptic plasticity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mast cell cytokine production	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of mast cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of pseudopodium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of pyloric antrum smooth muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of receptor signaling pathway via JAK-STAT	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of small intestine smooth muscle contraction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of tyrosine phosphorylation of STAT protein	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of vascular associated smooth muscle cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of programmed cell death	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein autophosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein autophosphorylation	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of bile acid metabolic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of cell shape	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within response to radiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in somatic stem cell population maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	ISO Inferred from Sequence Orthology more info
involved_in stem cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual learning	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in acrosomal vesicle	ISO Inferred from Sequence Orthology more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in fibrillar center	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: mast/stem cell growth factor receptor Kit

Names: Dominant white spotting; SCFR; Steel Factor Receptor; belly-spot; c-kit proto-oncogene protein; dominant spotting; kit oncogene; proto-oncogene c-Kit; proto-oncogene tyrosine-protein kinase Kit; spotted sterile male; tyrosine-protein kinase Kit

NP_001116205.1

EC 2.7.10.1

NP_066922.2

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001122733.1 → NP_001116205.1 mast/stem cell growth factor receptor Kit isoform 1 precursor

See identical proteins and their annotated locations for NP_001116205.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK047010, BC052457, BY123520

Consensus CDS

CCDS51525.1

UniProtKB/Swiss-Prot

P05532, Q61415, Q61416, Q61417, Q6LEE9, Q6QJB7, Q6QJB8, Q7TS86, Q8C8K9

Related

ENSMUSP00000005815.7, ENSMUST00000005815.7

Conserved Domains (6) summary

cd05860
Location:314 → 414

Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

smart00410
Location:221 → 310

IG_like; Immunoglobulin like

cd05104
Location:556 → 930

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:217 → 308

ig; Immunoglobulin domain

pfam07714
Location:592 → 926

Pkinase_Tyr; Protein tyrosine kinase

cl11960
Location:427 → 501

Ig; Immunoglobulin domain
NM_021099.3 → NP_066922.2 mast/stem cell growth factor receptor Kit isoform 2 precursor

See identical proteins and their annotated locations for NP_066922.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate splice site in the CDS and encodes a shorter isoform, as compared to variant 1.

Source sequence(s)

AY536430, BC052457, BY017579

Consensus CDS

CCDS80302.1

UniProtKB/Swiss-Prot

P05532

Related

ENSMUSP00000116465.3, ENSMUST00000144270.8

Conserved Domains (6) summary

cd05860
Location:314 → 414

Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

smart00410
Location:221 → 310

IG_like; Immunoglobulin like

cd05104
Location:552 → 926

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:217 → 308

ig; Immunoglobulin domain

pfam07714
Location:588 → 922

Pkinase_Tyr; Protein tyrosine kinase

cl11960
Location:427 → 501

Ig; Immunoglobulin domain