Version 5.4
Homo sapiens Gene: KIT
Summary
InnateDB Gene IDBG-18980.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIT
Gene Name v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Synonyms C-Kit; CD117; PBT; SCFR
Species Homo sapiens
Ensembl Gene ENSG00000157404
Encoded Proteins
IDBP-18984
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
IDBP-368132
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 4:54657918-54740715
Strand Forward strand
Band q12
Transcripts
ENST00000288135 ENSP00000288135
ENST00000412167 ENSP00000390987
ENST00000514582
ENST00000512959
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 119 experimentally validated interaction(s) in this database.
They are also associated with 24 interaction(s) predicted by orthology.
Experimentally validated
Total 119 [view]
Protein-Protein 117 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 24 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0002020 protease binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0004716 receptor signaling protein tyrosine kinase activity
GO:0005020 stem cell factor receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016772 transferase activity, transferring phosphorus-containing groups
GO:0019955 cytokine binding
GO:0042803 protein homodimerization activity
GO:0046872 metal ion binding
Biological Process
GO:0000187 activation of MAPK activity
GO:0001541 ovarian follicle development
GO:0002318 myeloid progenitor cell differentiation
GO:0002320 lymphoid progenitor cell differentiation
GO:0002327 immature B cell differentiation
GO:0002371 dendritic cell cytokine production
GO:0002551 mast cell chemotaxis
GO:0002573 myeloid leukocyte differentiation
GO:0006468 protein phosphorylation
GO:0006687 glycosphingolipid metabolic process
GO:0006954 inflammatory response
GO:0007165 signal transduction
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007173 epidermal growth factor receptor signaling pathway
GO:0007283 spermatogenesis
GO:0007286 spermatid development
GO:0008284 positive regulation of cell proliferation
GO:0008354 germ cell migration
GO:0008360 regulation of cell shape
GO:0008542 visual learning
GO:0008543 fibroblast growth factor receptor signaling pathway
GO:0008584 male gonad development
GO:0009314 response to radiation
GO:0010628 positive regulation of gene expression
GO:0010863 positive regulation of phospholipase C activity
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0019221 cytokine-mediated signaling pathway
GO:0019827 stem cell maintenance
GO:0023014 signal transduction by phosphorylation
GO:0030032 lamellipodium assembly
GO:0030097 hemopoiesis
GO:0030217 T cell differentiation
GO:0030218 erythrocyte differentiation
GO:0030318 melanocyte differentiation
GO:0030335 positive regulation of cell migration
GO:0031274 positive regulation of pseudopodium assembly
GO:0031532 actin cytoskeleton reorganization
GO:0032762 mast cell cytokine production
GO:0035019 somatic stem cell maintenance
GO:0035162 embryonic hemopoiesis
GO:0035234 ectopic germ cell programmed cell death
GO:0035556 intracellular signal transduction
GO:0035855 megakaryocyte development
GO:0038093 Fc receptor signaling pathway
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0038109 Kit signaling pathway
GO:0038162 erythropoietin-mediated signaling pathway
GO:0042127 regulation of cell proliferation
GO:0042511 positive regulation of tyrosine phosphorylation of Stat1 protein
GO:0042517 positive regulation of tyrosine phosphorylation of Stat3 protein
GO:0042523 positive regulation of tyrosine phosphorylation of Stat5 protein
GO:0043069 negative regulation of programmed cell death
GO:0043303 mast cell degranulation
GO:0043406 positive regulation of MAP kinase activity
GO:0043410 positive regulation of MAPK cascade
GO:0043473 pigmentation
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activity
GO:0045087 innate immune response
GO:0045747 positive regulation of Notch signaling pathway
GO:0046427 positive regulation of JAK-STAT cascade
GO:0046777 protein autophosphorylation
GO:0048011 neurotrophin TRK receptor signaling pathway
GO:0048015 phosphatidylinositol-mediated signaling
GO:0048066 developmental pigmentation
GO:0048070 regulation of developmental pigmentation
GO:0048103 somatic stem cell division
GO:0048170 positive regulation of long-term neuronal synaptic plasticity
GO:0048565 digestive tract development
GO:0048863 stem cell differentiation
GO:0050673 epithelial cell proliferation
GO:0050910 detection of mechanical stimulus involved in sensory perception of sound
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060326 cell chemotaxis
GO:0060374 mast cell differentiation
GO:0070662 mast cell proliferation
GO:0097067 cellular response to thyroid hormone stimulus
GO:0097324 melanocyte migration
GO:0097326 melanocyte adhesion
Cellular Component
GO:0001669 acrosomal vesicle
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0009897 external side of plasma membrane
GO:0009898 cytoplasmic side of plasma membrane
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0042629 mast cell granule
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000005672
View Gene Order
ENSBTAG00000002699
Not yet available
Pathways
NETPATH
NetPath_4
EGFR1 pathway
NetPath_6
KitReceptor pathway
REACTOME
REACT_75829
PIP3 activates AKT signaling pathway
REACT_147814
DAP12 signaling pathway
REACT_147694
DAP12 interactions pathway
REACT_12464
PI3K/AKT activation pathway
REACT_12578
GAB1 signalosome pathway
REACT_9417
Signaling by EGFR pathway
REACT_115961
PI3K events in ERBB4 signaling pathway
REACT_115596
Signaling by ERBB4 pathway
REACT_116008
PI3K events in ERBB2 signaling pathway
REACT_115755
Signaling by ERBB2 pathway
REACT_21270
PI-3K cascade pathway
REACT_9470
Signaling by FGFR pathway
REACT_111225
Regulation of KIT signaling pathway
REACT_111040
Signaling by SCF-KIT pathway
REACT_17025
Downstream signal transduction pathway
REACT_16888
Signaling by PDGF pathway
REACT_147727
Constitutive PI3K/AKT Signaling in Cancer pathway
REACT_120736
Signaling by FGFR in disease pathway
REACT_11061
Signalling by NGF pathway
REACT_115871
Signaling by EGFR in Cancer pathway
REACT_21272
Downstream signaling of activated FGFR pathway
REACT_163769
Role of LAT2/NTAL/LAB on calcium mobilization pathway
REACT_6802
Innate Immune System pathway
REACT_163936
Fc epsilon receptor (FCERI) signaling pathway
REACT_111102
Signal Transduction pathway
REACT_75774
Adaptive Immune System pathway
REACT_6900
Immune System pathway
REACT_12056
NGF signalling via TRKA from the plasma membrane pathway
REACT_147723
PI3K/AKT Signaling in Cancer pathway
REACT_118773
Signaling by the B Cell Receptor (BCR) pathway
REACT_118638
Downstream signaling events of B Cell Receptor (BCR) pathway
REACT_116125
Disease pathway
KEGG
hsa04640
Hematopoietic cell lineage pathway
hsa05221
Acute myeloid leukemia pathway
hsa04060
Cytokine-cytokine receptor interaction pathway
hsa04916
Melanogenesis pathway
hsa04144
Endocytosis pathway
hsa05200
Pathways in cancer pathway
INOH
INOH website
IL-7 signaling pathway
INOH website
JAK STAT pathway and regulation pathway
INOH website
EPO signaling pathway pathway
INOH website
VEGF signaling pathway pathway
PID NCI
cmyb_pathway
C-MYB transcription factor network
kitpathway
Signaling events mediated by Stem cell factor receptor (c-Kit)
Cross-References
SwissProt P10721
TrEMBL Q8TCG9
UniProt Splice Variant
Entrez Gene 3815
UniGene Hs.479754 Hs.717339
RefSeq NM_001093772 XM_006714038 NM_000222 XM_005265740 XM_005265741 XM_005265742
HUGO HGNC:6342
OMIM 164920
CCDS CCDS47058 CCDS3496
HPRD 01287
IMGT
EMBL AC006552 AC092545 AJ438313 AK304031 BC071593 EU826594 GU983671 HM015525 HM015526 S67773 U63834 X06182 X69301 X69302 X69303 X69304 X69305 X69306 X69307 X69308 X69309 X69310 X69311 X69312 X69313 X69314 X69315 X69316
GenPept AAB29529 AAC50968 AAC50969 AAH71593 ACF47630 ADF36702 ADF50068 ADF50069 BAG64945 CAA29548 CAA49159 CAD27356
RNA Seq Atlas 3815

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca