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KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog [ Homo sapiens (human) ]

Gene ID: 3815, updated on 22-May-2013

Summary

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Official Symbol: KITprovided by HGNC
Official Full Name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homologprovided by HGNC
Primary source: HGNC:6342
See related: Ensembl:ENSG00000157404; HPRD:01287; MIM:164920; Vega:OTTHUMG00000128713
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PBT; SCFR; C-Kit; CD117
Summary: This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 4q11-q12

Sequence :: Chromosome: 4; NC_000004.11 (55524095..55606881)

See KIT in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

The expression of c-kit in the majority of mucosal melanomas suggests that it may be useful in the assessment of these tumors
Title: Expression of Sox10 and c-kit in sinonasal mucosal melanomas arising in the Chinese population.
The mutation analysis revealed a heterozygous deletion/insertion involving exon 11 of KIT (pK558_V559delNNins).
Title: A novel complex KIT mutation in a gastrointestinal stromal tumor of the vermiform appendix.
Immunohistochemical determination of c-kit may be helpful for the typing of ovarian tumors as benign, borderline and malignant or serous and mucinous.
Title: Immunohistochemistry with apoptotic-antiapoptotic proteins (p53, p21, bax, bcl-2), c-kit, telomerase, and metallothionein as a diagnostic aid in benign, borderline, and malignant serous and mucinous ovarian tumors.
Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.
Title: Lack of association between the functional c-kit rs6554199 polymorphism and achalasia in a Spanish population.
Increased SCF/c-kit by hypoxia promotes autophagy of human placental chorionic plate-derived mesenchymal stem cells via regulating the phosphorylation of mTOR.
Title: Increased SCF/c-kit by hypoxia promotes autophagy of human placental chorionic plate-derived mesenchymal stem cells via regulating the phosphorylation of mTOR.
activating c-KIT mutations were found in 53percent of ovarian dysgerminomas without disorders of sex development (DSD); in the 16 DSD cases a N505I and D820E mutation was found in a single tumor of a patient with gonadoblastoma and dysgerminoma
Title: Prevalence of c-KIT mutations in gonadoblastoma and dysgerminomas of patients with disorders of sex development (DSD) and ovarian dysgerminomas.
Data show that in contrast to the oncogenic KITD816V, TET2 mutation statistically associates with aggressive forms of the disease.
Title: In aggressive forms of mastocytosis, TET2 loss cooperates with c-KITD816V to transform mast cells.
Kit overexpression is associated with T-cell acute lymphoblastic leukemia.
Title: Receptor kinase profiles identify a rationale for multitarget kinase inhibition in immature T-ALL.
We conclude that non-type A CBFB-MYH11 fusion types associate with distinct clinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile in acute myeloid leukemia
Title: inv(16)/t(16;16) acute myeloid leukemia with non-type A CBFB-MYH11 fusions associate with distinct clinical and genetic features and lack KIT mutations.
Family study of gastrointestinal stromal tumors caused by mutation in exon 13 (K642E) of the KIT gene.
Title: [Familial gastrointestinal stroma tumor due to mutation in exon 13 (K642E) of the KIT gene].

Submit: New GeneRIF Correction See all (521)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Familial acute myeloid leukemia (AML) with mutated CEBPA is defined as AML in which a germline CEBPA mutation is present in a family in which multiple individuals have AML. In contrast, sporadic AML with mutated CEBPA is defined as AML in which a CEBPA mutation is identified in somatic (i.e., leukemic) cells but not in germline (i.e., non-leukemic) cells. Too few persons with familial AML with mutated CEBPA have been reported to be certain about the natural history of the disease. The age of onset of familial AML with mutated CEBPA appears to be earlier than sporadic AML; disease onset has been reported in persons as young as age four years and older than age 50 years. The prognosis of individuals with familial AML with mutated CEBPA appears to be favorable (~50%-65% overall survival) compared to the ~25%-40% overall survival of those who have normal karyotype AML but no germline CEPBA mutation. Individuals with familial AML with mutated CEBPA who have been cured of their initial disease may be at greater risk of developing additional malignant clones than persons with sporadic disease.

Diagnosis Testing

CEBPA mutations are found in the leukemic cells of approximately 9% of persons with AML, including 15%-18% of persons with normal-karyotype AML; however, few of these individuals have a germline mutation. Detection of a germline CEBPA mutation in a specimen that contains only non-leukemic cells from an individual with AML or detection of a germline CEBPA mutation in a member of a pedigree in which more than one family member has had AML or myelodysplastic syndrome (MDS) establishes the diagnosis of familial AML with mutated CEBPA. Molecular genetic testing of CEBPA is available on a clinical basis.

Genetic Counseling

Familial AML with mutated CEBPA is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo germline mutation is unknown; currently, all seven reported affected individuals have had an affected parent. Each child of an affected individual has a 50% chance of inheriting the germline mutation. No laboratories offering molecular genetic testing for prenatal diagnosis of familial AML with mutated CEBPA are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing germline mutation has been identified. Requests for prenatal testing for conditions that do not affect intellect and have treatment available are not common.

NHGRI GWAS Catalog

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Nef, p27	nef	The mechanism of HIV-1 induced apoptosis in astrocytes involves the upregulation of the receptor tyrosine kinase protooncogene c-Kit by the HIV-1 Nef protein	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000213.1	NP_002077.1	GRB2	BIND	PubMed	Kit interacts with Grb2. This interaction was modeled on a demonstrated interaction between mouse proteins.
NP_000213.1	NP_002077.1	GRB2	BIND	PubMed	Grb2 interacts with c-Kit upon stimulation with SLF. This interaction was modeled on a demonstrated interaction between mouse Grb2 and human c-Kit.
NP_000213.1	AAB50019.1	LYN	BIND	PubMed	c-Kit interacts with p53Lyn.
NP_000213.1	NP_002341.1	LYN	BIND	PubMed	c-Kit interacts with p56Lyn.
NP_000213.1	NP_852664.1	PIK3R1	BIND	PubMed	Kit interacts with p85-alpha. This interaction was modeled on a demonstrated interaction between mouse proteins
NP_000213.1	NP_005018.1	PIK3R2	BIND	PubMed	Kit interacts with p85-beta. This interaction was modeled on a demonstrated interaction between mouse proteins.
NP_000213.1	NP_002651.2	PLCG1	BIND	PubMed	Kit interacts with PLC-gamma. This interaction was modeled on a demonstrated interaction between mouse proteins.
NP_000213.1	NP_002825.3	PTPN11	BIND	PubMed	Syp interacts with c-Kit via its SH2 domain.
NP_000213.1	NP_003736.1	SOCS1	BIND	PubMed	Socs1 interacts with Kit. This interaction was modeled on a demonstrated interaction between mouse proteins
NP_000213.1	NP_009330.1	STAT1	BIND	PubMed	STAT1-alpha interacts with c-kit
P10721	P00519	ABL1	HPRD	PubMed
P10721	Q06187	BTK	HPRD	PubMed
P10721	P22681	CBL	HPRD	PubMed
P10721	Q13191	CBLB	HPRD	PubMed
P10721	P60033	CD81	HPRD	PubMed
P10721	P21926	CD9	HPRD	PubMed
P10721	Q9NSE2	CISH	HPRD	PubMed
P10721	Q00610	CLTC	HPRD	PubMed
P10721	P46108	CRK	HPRD	PubMed
P10721	P46109	CRKL	HPRD	PubMed
P10721	P15509	CSF2RA	HPRD	PubMed
P10721	P32927	CSF2RB	HPRD	PubMed
P10721	Q99704	DOK1	HPRD	PubMed
P10721	P19235	EPOR	HPRD	PubMed
P10721	P06241	FYN	HPRD	PubMed
P10721	Q13588	GRAP	HPRD	PubMed
P10721	O75791	GRAP2	HPRD	PubMed
P10721	Q13322	GRB10	HPRD	PubMed
P10721	P62993	GRB2	HPRD	PubMed
P10721	Q14451	GRB7	HPRD	PubMed
P10721	P08631	HCK	HPRD	PubMed
P10721	O00145	INPP5D	HPRD	PubMed
P10721	O60674	JAK2	HPRD	PubMed
P10721	P10721	KIT	HPRD	PubMed
P10721	P21583	KITLG	HPRD	PubMed
P10721	P06239	LCK	HPRD	PubMed
P10721	P07948	LYN	HPRD	PubMed
P10721	P42679	MATK	HPRD	PubMed
P10721	O75970	MPDZ	HPRD	PubMed
P10721	P48736	PIK3CG	HPRD	PubMed
P10721	P27986	PIK3R1	HPRD	PubMed
P10721	O00459	PIK3R2	HPRD	PubMed
P10721	Q9P212	PLCE1	HPRD	PubMed
P10721	P19174	PLCG1	HPRD	PubMed
P10721	P17252	PRKCA	HPRD	PubMed
P10721	P05771	PRKCB	HPRD	PubMed
P10721	Q06124	PTPN11	HPRD	PubMed
P10721	P29350	PTPN6	HPRD	PubMed
P10721	Q16827	PTPRO	HPRD	PubMed
P10721	Q92729	PTPRU	HPRD	PubMed
P10721	P20936	RASA1	HPRD	PubMed
P10721	O14492	SH2B2	HPRD	PubMed
P10721	Q9UQQ2	SH2B3	HPRD	PubMed
P10721	O15524	SOCS1	HPRD	PubMed
P10721	O75159	SOCS5	HPRD	PubMed
P10721	O14544	SOCS6	HPRD	PubMed
P10721	Q7Z699	SPRED1	HPRD	PubMed
P10721	Q7Z698	SPRED2	HPRD	PubMed
P10721	P12931	SRC	HPRD	PubMed
P10721	BCR downstream signaling 1	STAP1	HPRD	PubMed
P10721	P42224	STAT1	HPRD	PubMed
P10721	P42229	STAT5A	HPRD	PubMed
P10721	P51692	STAT5B	HPRD	PubMed
P10721	P42680	TEC	HPRD	PubMed
P10721	P07947	YES1	HPRD	PubMed
BioGRID:110015	BioGRID:107083	BCR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107316	CBLB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107405	CD63	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107413	CD81	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107366	CD9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107623	CLTC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107788	CRK	BioGRID	PubMed	Two-hybrid
BioGRID:110015	BioGRID:107789	CRKL	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:108131	DOK1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:115973	GRAP	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:109144	GRB10	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:109143	GRB7	BioGRID	PubMed	Protein-peptide; Reconstituted Complex
BioGRID:110015	BioGRID:109847	INPP5D	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:109920	JAK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:110410	KITLG	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:110124	LCK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:110245	LYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:110315	MATK	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:114307	MPDZ	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:111182	PDGFRA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:111313	PIK3R1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:111314	PIK3R2	BioGRID	PubMed	Two-hybrid
BioGRID:110015	BioGRID:111351	PLCG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:111745	PTPN11	BioGRID	PubMed	Affinity Capture-Western; Protein-peptide; Reconstituted Complex
BioGRID:110015	BioGRID:111742	PTPN6	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:111764	PTPRO	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:111913	RFC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:119029	SH3KBP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:116983	SIRT1	BioGRID	PubMed	Negative Genetic
BioGRID:110015	BioGRID:116593	SIRT2	BioGRID	PubMed	Negative Genetic
BioGRID:110015	BioGRID:114203	SOCS1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110015	BioGRID:114719	SOCS6	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Co-crystal Structure
BioGRID:110015	BioGRID:112592	SRC	BioGRID	PubMed	Protein-peptide
BioGRID:110015	BioGRID:112649	STAT1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:110015	BioGRID:204795	Sh2b2	BioGRID	PubMed	Protein-peptide; Reconstituted Complex
BioGRID:110015	BioGRID:112865	TEC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:204403	Ubc	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:113357	YES1	BioGRID	PubMed	Reconstituted Complex

Pathways from BioSystems

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Acute myeloid leukemia, organism-specific biosystem (from KEGG)
Acute myeloid leukemia, organism-specific biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
Acute myeloid leukemia, conserved biosystem (from KEGG)
Acute myeloid leukemia, conserved biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
Adaptive Immune System, organism-specific biosystem (from REACTOME)
Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
C-MYB transcription factor network, organism-specific biosystem
C-MYB transcription factor network
Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
Constitutive PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
Constitutive PI3K/AKT Signaling in Cancer, organism-specific biosystemClass IA PI3K is a heterodimer of a p85 regulatory subunit (encoded by PIK3R1, PIK3R2 or PIK3R3) and a p110 catalytic subunit (encoded by PIK3CA, PIK3CB or PIK3CD). In the absence of activating signa...
Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
DAP12 interactions, organism-specific biosystem (from REACTOME)
DAP12 interactions, organism-specific biosystemDNAX activation protein of 12kDa (DAP12) is an immunoreceptor tyrosine-based activation motif (ITAM)-bearing adapter molecule that transduces activating signals in natural killer (NK) and myeloid cel...
DAP12 signaling, organism-specific biosystem (from REACTOME)
DAP12 signaling, organism-specific biosystemIn response to receptor ligation, the tyrosine residues in DAP12's immunoreceptor tyrosine-based activation motif (ITAM) are phosphorylated by Src family kinases. These phosphotyrosines form the dock...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Downstream Signaling Events Of B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
Downstream Signaling Events Of B Cell Receptor (BCR), organism-specific biosystemSecond messengers (calcium, diacylglycerol, inositol 1,4,5-trisphosphate, and phosphatidyinositol 3,4,5-trisphosphate) trigger signaling pathways: NF-kappaB is activated via protein kinase C beta, RA...
Downstream signal transduction, organism-specific biosystem (from REACTOME)
Downstream signal transduction, organism-specific biosystemThe role of autophosphorylation sites on PDGF receptors are to provide docking sites for downstream signal transduction molecules which contain SH2 domains. The SH2 domain is a conserved motif of aro...
Downstream signaling of activated FGFR, organism-specific biosystem (from REACTOME)
Downstream signaling of activated FGFR, organism-specific biosystemSignaling via FGFRs is mediated via direct recruitment of signaling proteins that bind to tyrosine auto-phosphorylation sites on the activated receptor and via closely linked docking proteins that be...
Endocytosis, organism-specific biosystem (from KEGG)
Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
Endocytosis, conserved biosystem (from KEGG)
Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
GAB1 signalosome, organism-specific biosystem (from REACTOME)
GAB1 signalosome, organism-specific biosystemGAB1 is recruited to the activated EGFR indirectly, through GRB2. GAB1 acts as an adaptor protein that enables formation of an active PIK3, through recruitment of PIK3 regulatory subunit PIK3R1 (also...
Hematopoietic cell lineage, organism-specific biosystem (from KEGG)
Hematopoietic cell lineage, organism-specific biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Hematopoietic cell lineage, conserved biosystem (from KEGG)
Hematopoietic cell lineage, conserved biosystemBlood-cell development progresses from a hematopoietic stem cell (HSC), which can undergo either self-renewal or differentiation into a multilineage committed progenitor cell: a common lymphoid proge...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
Kit Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
Kit Receptor Signaling Pathway, organism-specific biosystemKit is a receptor protein tyrosine kinase, which is a receptor for stem cell factor or kit ligand. Signaling through Kit is important for formation of red cells, lymphocytes, mast cells and platelets...
Melanogenesis, organism-specific biosystem (from KEGG)
Melanogenesis, organism-specific biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
Melanogenesis, conserved biosystem (from KEGG)
Melanogenesis, conserved biosystemCutaneous melanin pigment plays a critical role in camouflage, mimicry, social communication, and protection against harmful effects of solar radiation. Melanogenesis is under complex regulatory cont...
NGF signalling via TRKA from the plasma membrane, organism-specific biosystem (from REACTOME)
NGF signalling via TRKA from the plasma membrane, organism-specific biosystemTrk receptors signal from the plasma membrane and from intracellular membranes, particularly from early endosomes. Signalling from the plasma membrane is fast but transient; signalling from endosomes...
PI-3K cascade, organism-specific biosystem (from REACTOME)
PI-3K cascade, organism-specific biosystemThe ability of growth factors to protect from apoptosis is primarily due to the activation of the AKT survival pathway. P-I-3-kinase dependent activation of PDK leads to the activation of AKT which i...
PI3K events in ERBB2 signaling, organism-specific biosystem (from REACTOME)
PI3K events in ERBB2 signaling, organism-specific biosystemERBB2:ERBB3 and ERBB2:ERBB4cyt1 heterodimers activate PI3K signaling by direct binding of PI3K regulatory subunit p85 (Yang et al. 2007, Cohen et al. 1996, Kaushansky et al. 2008) to phosphorylated t...
PI3K events in ERBB4 signaling, organism-specific biosystem (from REACTOME)
PI3K events in ERBB4 signaling, organism-specific biosystemThe CYT1 isoforms of ERBB4 possess a C-tail tyrosine residue that, upon trans-autophosphorylation, serves as a docking site for the p85 alpha subunit of PI3K - PIK3R1 (Kaushansky et al. 2008, Cohen e...
PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
PI3K/AKT Signaling in Cancer, organism-specific biosystem (from REACTOME)
PI3K/AKT Signaling in Cancer, organism-specific biosystemThis pathway describes how normal signaling by PI3K/AKT, presented in the contained module 'PIP3 Activates AKT Signaling' and recently reviewed by Manning and Cantley in 2007, is perturbed in cancer,...
PI3K/AKT activation, organism-specific biosystem (from REACTOME)
PI3K/AKT activation, organism-specific biosystemPI3K/AKT signalling is a major regulator of neuron survival. It blocks cell death by both impinging on the cytoplasmic cell death machinery and by regulating the expression of genes involved in cell...
PIP3 activates AKT signaling, organism-specific biosystem (from REACTOME)
PIP3 activates AKT signaling, organism-specific biosystemSignaling by AKT is one of the key outcomes of receptor tyrosine kinase (RTK) activation. AKT is activated by the cellular second messenger PIP3, a phospholipid that is generated by PI3K. In ustimula...
Pathways in cancer, organism-specific biosystem (from KEGG)
Pathways in cancer, organism-specific biosystem
Pathways in cancer
Regulation of KIT signaling, organism-specific biosystem (from REACTOME)
Regulation of KIT signaling, organism-specific biosystemSCF induced proliferation is negatively regulated by various proteins including SHP1, PKC, CBL, SOCS1, SOCS6 and LNK.
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by EGFR, organism-specific biosystem (from REACTOME)
Signaling by EGFR, organism-specific biosystemThe epidermal growth factor receptor (EGFR) is one member of the ERBB family of transmembrane glycoprotein tyrosine receptor kinases (RTK). Binding of EGFR to its ligands induces conformational chang...
Signaling by EGFR in Cancer, organism-specific biosystem (from REACTOME)
Signaling by EGFR in Cancer, organism-specific biosystemThe pathway "Signaling by EGFR in Cancer" shows "Signaling by constitutively active EGFR" in parallel with "Signaling by EGFR". This allows users to compare signaling by constitutively active EGFR ca...
Signaling by ERBB2, organism-specific biosystem (from REACTOME)
Signaling by ERBB2, organism-specific biosystemERBB2, also known as HER2 or NEU, is a receptor tyrosine kinase (RTK) belonging to the EGFR family. ERBB2 possesses an extracellular domain that does not bind any known ligand, contrary to other EGFR...
Signaling by ERBB4, organism-specific biosystem (from REACTOME)
Signaling by ERBB4, organism-specific biosystemERBB4, also known as HER4, belongs to the ERBB family of receptors, which also includes ERBB1 (EGFR i.e. HER1), ERBB2 (HER2 i.e. NEU) and ERBB3 (HER3). Similar to EGFR, ERBB4 has an extracellular lig...
Signaling by FGFR, organism-specific biosystem (from REACTOME)
Signaling by FGFR, organism-specific biosystemThe 22 members of the fibroblast growth factor (FGF) family of growth factors mediate their cellular responses by binding to and activating the different isoforms encoded by the four receptor tyrosin...
Signaling by FGFR in disease, organism-specific biosystem (from REACTOME)
Signaling by FGFR in disease, organism-specific biosystemThe pathway 'Signaling by FGFR in disease' shows 'Signaling by FGFR mutants' in parallel with the wild-type pathway 'Signaling by FGFR', allowing users to compare disease and normal events. FGFR mut...
Signaling by PDGF, organism-specific biosystem (from REACTOME)
Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
Signaling by SCF-KIT, organism-specific biosystem (from REACTOME)
Signaling by SCF-KIT, organism-specific biosystemStem cell factor (SCF) is a growth factor with membrane bound and soluble forms. It is expressed by fibroblasts and endothelial cells throughout the body, promoting proliferation, migration, survival...
Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...
Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem (from Pathway Interaction Database)
Signaling events mediated by Stem cell factor receptor (c-Kit), organism-specific biosystem
Signaling events mediated by Stem cell factor receptor (c-Kit)
Signalling by NGF, organism-specific biosystem (from REACTOME)
Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...

General gene information

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Markers

SHGC-67781 (e-PCR)
- UniSTS:853

GDB:512789 (e-PCR)
- UniSTS:157531

STS-N21003 (e-PCR)
- UniSTS:21855

GDB:181531 (e-PCR)
- UniSTS:155257

SHGC-12679 (e-PCR)
- UniSTS:62849

SHGC4-128 (e-PCR)
- UniSTS:79238

GDB:250632 (e-PCR)
- UniSTS:156301

GDB:626073 (e-PCR)
- UniSTS:158385

SHGC-50170 (e-PCR)
- UniSTS:72370

GDB:626077 (e-PCR)
- UniSTS:158386

GDB:626080 (e-PCR)
- UniSTS:158387

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

G15879 (e-PCR)
- UniSTS:79825

Genotypes

See KIT SNP Geneview Report
See KIT SNP Genotype Report
See KIT SNP Variation Viewer Report

Homology

Homologs of the KIT gene: The KIT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
cytokine binding	IDA Inferred from Direct Assay more info
metal ion binding	IEA Inferred from Electronic Annotation more info
protease binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IPI Inferred from Physical Interaction more info
protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed
receptor signaling protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
stem cell factor receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane receptor protein tyrosine kinase activity	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
Fc receptor signaling pathway	IDA Inferred from Direct Assay more info
Kit signaling pathway	IDA Inferred from Direct Assay more info	PubMed
T cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
actin cytoskeleton reorganization	IDA Inferred from Direct Assay more info	PubMed
activation of MAPK activity	IDA Inferred from Direct Assay more info
cell chemotaxis	IDA Inferred from Direct Assay more info	PubMed
cellular response to thyroid hormone stimulus	IEA Inferred from Electronic Annotation more info
cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info
dendritic cell cytokine production	ISS Inferred from Sequence or Structural Similarity more info
detection of mechanical stimulus involved in sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info
digestive tract development	ISS Inferred from Sequence or Structural Similarity more info
embryonic hemopoiesis	ISS Inferred from Sequence or Structural Similarity more info
epidermal growth factor receptor signaling pathway	TAS Traceable Author Statement more info
erythrocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
erythropoietin-mediated signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
fibroblast growth factor receptor signaling pathway	TAS Traceable Author Statement more info
germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
glycosphingolipid metabolic process	IEA Inferred from Electronic Annotation more info
hemopoiesis	TAS Traceable Author Statement more info	PubMed
immature B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
innate immune response	TAS Traceable Author Statement more info
intracellular protein kinase cascade	IEA Inferred from Electronic Annotation more info
lamellipodium assembly	ISS Inferred from Sequence or Structural Similarity more info
lymphoid progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
male gonad development	IEP Inferred from Expression Pattern more info	PubMed
mast cell chemotaxis	IDA Inferred from Direct Assay more info
mast cell cytokine production	IDA Inferred from Direct Assay more info
mast cell degranulation	IMP Inferred from Mutant Phenotype more info
mast cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
mast cell differentiation	TAS Traceable Author Statement more info	PubMed
mast cell proliferation	TAS Traceable Author Statement more info
megakaryocyte development	ISS Inferred from Sequence or Structural Similarity more info
melanocyte adhesion	ISS Inferred from Sequence or Structural Similarity more info
melanocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
melanocyte differentiation	TAS Traceable Author Statement more info
melanocyte migration	ISS Inferred from Sequence or Structural Similarity more info
myeloid progenitor cell differentiation	IEA Inferred from Electronic Annotation more info
negative regulation of programmed cell death	IEA Inferred from Electronic Annotation more info
neurotrophin TRK receptor signaling pathway	TAS Traceable Author Statement more info
ovarian follicle development	ISS Inferred from Sequence or Structural Similarity more info
peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info
phosphatidylinositol-mediated signaling	TAS Traceable Author Statement more info
pigmentation	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of JAK-STAT cascade	IMP Inferred from Mutant Phenotype more info
positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info
positive regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
positive regulation of phosphatidylinositol 3-kinase activity	TAS Traceable Author Statement more info	PubMed
positive regulation of phosphatidylinositol 3-kinase cascade	TAS Traceable Author Statement more info	PubMed
positive regulation of phospholipase C activity	TAS Traceable Author Statement more info	PubMed
positive regulation of sequence-specific DNA binding transcription factor activity	IMP Inferred from Mutant Phenotype more info
positive regulation of tyrosine phosphorylation of Stat1 protein	IMP Inferred from Mutant Phenotype more info
positive regulation of tyrosine phosphorylation of Stat3 protein	IMP Inferred from Mutant Phenotype more info
positive regulation of tyrosine phosphorylation of Stat5 protein	IMP Inferred from Mutant Phenotype more info
protein autophosphorylation	IDA Inferred from Direct Assay more info
regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
regulation of cell shape	ISS Inferred from Sequence or Structural Similarity more info
regulation of developmental pigmentation	IEA Inferred from Electronic Annotation more info
response to radiation	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
signal transduction by phosphorylation	TAS Traceable Author Statement more info	PubMed
spermatid development	IEA Inferred from Electronic Annotation more info
spermatogenesis	ISS Inferred from Sequence or Structural Similarity more info
spermatogenesis	TAS Traceable Author Statement more info	PubMed
stem cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
stem cell maintenance	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: mast/stem cell growth factor receptor Kit

Names: mast/stem cell growth factor receptor Kit; p145 c-kit; proto-oncogene c-Kit; piebald trait protein; soluble KIT variant 1; tyrosine-protein kinase Kit; proto-oncogene tyrosine-protein kinase Kit; v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein

NP_000213.1

EC 2.7.10.1

NP_001087241.1

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.

Genomic

NG_007456.1 RefSeqGene

Range

4935..87721

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000222.2 → NP_000213.1 mast/stem cell growth factor receptor Kit isoform 1 precursor

Status: REVIEWED

Description

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

Source sequence(s)

BC071593, DC376760, X06182

Consensus CDS

CCDS3496.1

UniProtKB/Swiss-Prot

P10721

Related

ENSP00000288135, OTTHUMP00000158901, ENST00000288135, OTTHUMT00000250618

Conserved Domains (5) summary

cd05104
Location:553 – 928
Blast Score: 2048

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

cd00096
Location:230 – 304
Blast Score: 113

Ig; Immunoglobulin domain

cd05860
Location:311 – 411
Blast Score: 486

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

pfam07714
Location:771 – 924
Blast Score: 702

Pkinase_Tyr; Protein tyrosine kinase

pfam13895
Location:44 – 111
Blast Score: 103

Ig_2; Immunoglobulin domain
NM_001093772.1 → NP_001087241.1 mast/stem cell growth factor receptor Kit isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in a shorter protein (isoform 2).

Source sequence(s)

BC071593, CN414753, DC376760, X06182

Consensus CDS

CCDS47058.1

UniProtKB/Swiss-Prot

P10721

Conserved Domains (5) summary

cd05104
Location:549 – 924
Blast Score: 2047

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

cd00096
Location:230 – 304
Blast Score: 113

Ig; Immunoglobulin domain

cd05860
Location:311 – 411
Blast Score: 486

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

pfam07714
Location:767 – 920
Blast Score: 702

Pkinase_Tyr; Protein tyrosine kinase

pfam13895
Location:44 – 111
Blast Score: 103

Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p10 Primary Assembly

Range

55524095..55606881

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

51471979..51554769

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018915.1 Alternate CHM1_1.0

Range

55426458..55509245

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01003404.1 (345284..428074)	None
genomic	AC006552.7 (143625..183393)	None
genomic	AC092545.3	None
genomic	AMYH01014188.1 (217738..300525)	None
genomic	CH471057.1	EAX05460.1
		EAX05461.1
genomic	CS117948.1	CAJ15130.1
genomic	CS479297.1	CAM35390.1
genomic	CS542496.1	CAM91185.1
genomic	GM868983.1	CAT16960.1
genomic	L04143.1	None
genomic	S67773.1	AAB29529.1
genomic	S68472.1	AAB29301.1
genomic	U63834.1	AAC50968.1
		AAC50969.1
genomic	X65959.1	CAA46771.1
		CAA46772.1
genomic	X69301.1	CAA49159.1
mRNA	AJ438313.1	CAD27356.1
mRNA	AK304031.1	BAG64945.1
mRNA	BC071593.1	AAH71593.1
mRNA	CN414753.1	None
mRNA	DC376760.1	None
mRNA	EU826594.1	ACF47630.1
mRNA	GU983671.1	ADF36702.1
mRNA	HM015525.1	ADF50068.1
mRNA	HM015526.1	ADF50069.1
mRNA	HM030712.1	ADF50070.1
mRNA	HM030713.1	ADF50071.1
mRNA	HM437240.1	ADN43071.1
mRNA	X06182.1	CAA29548.1