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

Gene ID: 3815, updated on 21-Apr-2014
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]
Location :
4q12
Sequence :
Chromosome: 4; NC_000004.12 (54657928..54740715)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene platelet-derived growth factor receptor, alpha polypeptide Neighboring gene uncharacterized LOC339978 Neighboring gene ribosomal protein L38 pseudogene 3 Neighboring gene kinase insert domain receptor (a type III receptor tyrosine kinase)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Gastrointestinal Stromal Tumors
MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
Compare labs
Malignant tumor of testis
MedGen: C0153594 OMIM: 273300 GeneReviews: Not available
Compare labs
Mastocytosis
MedGen: C0024899 OMIM: 154800 GeneReviews: Not available
Compare labs
Partial albinism
MedGen: C0080024 OMIM: 172800 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
NHGRI GWA Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Protein interactions

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

  • 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...
  • Fc epsilon receptor (FCERI) signaling, organism-specific biosystem (from REACTOME)
    Fc epsilon receptor (FCERI) signaling, organism-specific biosystemMast cells (MC) are distributed in tissues throughout the human body and have long been recognized as key cells of type I hypersensitivity reactions. They also play important roles in inflammatory an...
  • 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
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Ras signaling pathway, organism-specific biosystem (from KEGG)
    Ras signaling pathway, organism-specific biosystemThe Ras proteins are GTPases that function as molecular switches for signaling pathways regulating cell proliferation, survival, growth, migration, differentiation or cytoskeletal dynamism. Ras prote...
  • 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.
  • Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystem (from REACTOME)
    Role of LAT2/NTAL/LAB on calcium mobilization, organism-specific biosystemThe lipid raft resident adaptor molecules LAT1 and Non-T cell activation linker (NTAL), also known as linker for activation of B cells (LAB)/LAT2 are known participants in the regulation of mast cell...
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
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
 
ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
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
 
epithelial cell proliferation IEA
Inferred from Electronic Annotation
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 migration 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
 
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 Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration IEA
Inferred from Electronic Annotation
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 long-term neuronal synaptic plasticity 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 signaling TAS
Traceable Author Statement
more info
PubMed 
positive regulation of phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
positive regulation of pseudopodium assembly IEA
Inferred from Electronic Annotation
more info
 
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
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
signal transduction by phosphorylation TAS
Traceable Author Statement
more info
PubMed 
somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell maintenance IEA
Inferred from Electronic Annotation
more info
 
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
 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
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 component of membrane IEA
Inferred from Electronic Annotation
more info
 
mast cell granule IMP
Inferred from Mutant Phenotype
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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
NP_001087241.1

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

  1. NG_007456.1 RefSeqGene

    Range
    4935..87721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_307

mRNA and Protein(s)

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

    See proteins identical to NP_000213.1

    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 (6) summary
    cd05104
    Location:553928
    Blast Score: 2062
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    cd00096
    Location:230304
    Blast Score: 117
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    Blast Score: 486
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220307
    Blast Score: 148
    IG_like; Immunoglobulin like
    pfam07714
    Location:589924
    Blast Score: 967
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:44111
    Blast Score: 107
    Ig_2; Immunoglobulin domain
  2. NM_001093772.1NP_001087241.1  mast/stem cell growth factor receptor Kit isoform 2 precursor

    See proteins identical to NP_001087241.1

    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 (6) summary
    cd05104
    Location:549924
    Blast Score: 2062
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    cd00096
    Location:230304
    Blast Score: 117
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    Blast Score: 487
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220307
    Blast Score: 148
    IG_like; Immunoglobulin like
    pfam07714
    Location:585920
    Blast Score: 967
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:44111
    Blast Score: 107
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12

    Range
    54657928..54740715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265740.1XP_005265797.1  

    Conserved Domains (6) summary
    cd05104
    Location:554929
    Blast Score: 2063
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    cd00096
    Location:230305
    Blast Score: 115
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Blast Score: 486
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    Blast Score: 148
    IG_like; Immunoglobulin like
    pfam07714
    Location:590925
    Blast Score: 967
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:44111
    Blast Score: 107
    Ig_2; Immunoglobulin domain
  2. XM_005265741.1XP_005265798.1  

    Conserved Domains (6) summary
    cd05104
    Location:554928
    Blast Score: 2075
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    cd00096
    Location:230305
    Blast Score: 115
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Blast Score: 486
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    Blast Score: 148
    IG_like; Immunoglobulin like
    pfam07714
    Location:590924
    Blast Score: 968
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:44111
    Blast Score: 107
    Ig_2; Immunoglobulin domain
  3. XM_005265742.1XP_005265799.1  

    Conserved Domains (6) summary
    cd05104
    Location:550925
    Blast Score: 2062
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    cd00096
    Location:230305
    Blast Score: 115
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Blast Score: 487
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    Blast Score: 148
    IG_like; Immunoglobulin like
    pfam07714
    Location:586921
    Blast Score: 967
    Pkinase_Tyr; Protein tyrosine kinase
    pfam13895
    Location:44111
    Blast Score: 107
    Ig_2; Immunoglobulin domain
  4. XM_006714038.1XP_006714101.1  

    Conserved Domains (4) summary
    cd00096
    Location:230305
    Blast Score: 111
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Blast Score: 478
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    Blast Score: 144
    IG_like; Immunoglobulin like
    pfam13895
    Location:44111
    Blast Score: 104
    Ig_2; Immunoglobulin domain

Alternate HuRef

Genomic

  1. AC_000136.1 Alternate HuRef

    Range
    51471979..51554769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 Alternate CHM1_1.1

    Range
    55559642..55642426
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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