Mouse Gene Kit (ENSMUST00000144270.7) from GENCODE VM23 Comprehensive Transcript Set (only Basic displayed by default)
  Description: Mus musculus KIT proto-oncogene receptor tyrosine kinase (Kit), transcript variant 2, mRNA. (from RefSeq NM_021099)
RefSeq Summary (NM_001122733): 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].
Gencode Transcript: ENSMUST00000144270.7
Gencode Gene: ENSMUSG00000005672.12
Transcript (Including UTRs)
   Position: mm10 chr5:75,574,916-75,656,722 Size: 81,807 Total Exon Count: 21 Strand: +
Coding Region
   Position: mm10 chr5:75,575,052-75,654,545 Size: 79,494 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA Structure
Protein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther Names
Model InformationMethods
Data last updated at UCSC: 2019-09-19

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:75,574,916-75,656,722)mRNA (may differ from genome)Protein (975 aa)
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-  Comments and Description Text from UniProtKB
  ID: KIT_MOUSE
DESCRIPTION: RecName: Full=Mast/stem cell growth factor receptor Kit; Short=SCFR; EC=2.7.10.1; AltName: Full=Proto-oncogene c-Kit; AltName: Full=Tyrosine-protein kinase Kit; AltName: CD_antigen=CD117; Flags: Precursor;
FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT promotes phosphorylation of the protein phosphatases PTPN6/SHP-1 and PTPRU, and of the transcription factors STAT1, STAT3, STAT5A and STAT5B. Promotes phosphorylation of PIK3R1, CBL, CRK (isoform Crk-II), LYN, MAPK1/ERK2 and/or MAPK3/ERK1, PLCG1, SRC and SHC1.
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
ENZYME REGULATION: Present in an inactive conformation in the absence of bound ligand. KITLG/SCF binding leads to dimerization and activation by autophosphorylation.
SUBUNIT: Monomer in the absence of bound KITLG/SCF. Homodimer in the presence of bound KITLG/SCF, forming a heterotetramer with two KITLG/SCF molecules. Interacts (via phosphorylated tyrosine residues) with the adapter proteins GRB2 and GRB7 (via SH2 domain), and SH2B2/APS. Interacts (via C-terminus) with MPDZ (via the tenth PDZ domain). Interacts (via phosphorylated tyrosine residues) with the protein phosphatases PTPN6/SHP-1 (via SH2 domain), PTPN11/SHP-2 (via SH2 domain) and PTPRU. Interacts with DOK1 and TEC (By similarity). Interacts with the protein kinase FES/FPS. Interacts with PLCG1. Interacts (via phosphorylated tyrosine residues) with PIK3R1 and PIK3 catalytic subunit.
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.
SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Note=Detected in the cytoplasm of spermatozoa, especially in the equatorial and subacrosomal region of the sperm head (By similarity).
TISSUE SPECIFICITY: Isoform 1 and isoform 2 are detected in bone marrow cells, spermatogonia and spermatocytes, but not in round spermatids, elongating spermatids and spermatozoa. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa, but not in spermatogonia and spermatocytes (at protein level). Isoform 1 is widely expressed and detected in fetal liver and bone marrow. Isoform 3 is detected in bone marrow cells enriched in hematopoietic stem cells.
PTM: Ubiquitinated by SOCS6. KIT is rapidly ubiquitinated after autophosphorylation induced by KITLG/SCF binding, leading to internalization and degradation (By similarity).
PTM: Autophosphorylated on tyrosine residues. KITLG/SCF binding promotes autophosphorylation of isoform 1 and isoform 2. Isoform 1 shows low levels of tyrosine phosphorylation in the absence of added KITLG/SCF, while isoform 2 requires stimulation by KITLG/SCF for phosphorylation (in vitro). Phosphorylation of Tyr-573 is required for interaction with PTPN6/SHP-1. Phosphorylation of Tyr- 571 is required for interaction with PTPN11/SHP-2. Phosphorylated tyrosine residues are important for interaction with specific binding partners.
DISEASE: Note=Defects in Kit are the cause of the white-spotting phenotype (W). White-spotting variants induces severe effects on pigmentation, gametogenesis and hematopoiesis. Mice homozygous for W42 die perinatally of macrocytic anemia.
MISCELLANEOUS: Numerous proteins are phosphorylated in response to KIT signaling, but it is not evident to determine which are directly phosphorylated by KIT under in vivo conditions.
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. CSF-1/PDGF receptor subfamily.
SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
SIMILARITY: Contains 1 protein kinase domain.

-  Primer design for this transcript
 

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-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -57.60136-0.424 Picture PostScript Text
3' UTR -632.002177-0.290 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR016243 - Tyr_kinase_CSF1/PDGF_rcpt
IPR001824 - Tyr_kinase_rcpt_3_CS

Pfam Domains:
PF00047 - Immunoglobulin domain
PF00069 - Protein kinase domain
PF07679 - Immunoglobulin I-set domain
PF07714 - Protein tyrosine kinase
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49384 - Carbohydrate-binding domain
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2O26 - X-ray


ModBase Predicted Comparative 3D Structure on P05532
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
HumanRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
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 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0002020 protease binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005020 stem cell factor receptor activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
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:0006935 chemotaxis
GO:0006954 inflammatory response
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007281 germ cell development
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:0008584 male gonad development
GO:0009314 response to radiation
GO:0010628 positive regulation of gene expression
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0019221 cytokine-mediated signaling pathway
GO:0030032 lamellipodium assembly
GO:0030097 hemopoiesis
GO:0030154 cell differentiation
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 population maintenance
GO:0035162 embryonic hemopoiesis
GO:0035234 ectopic germ cell programmed cell death
GO:0035556 intracellular signal transduction
GO:0035701 hematopoietic stem cell migration
GO:0035855 megakaryocyte development
GO:0038093 Fc receptor signaling pathway
GO:0038109 Kit signaling pathway
GO:0038162 erythropoietin-mediated signaling pathway
GO:0042531 positive regulation of tyrosine phosphorylation of STAT 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:0043586 tongue development
GO:0045747 positive regulation of Notch signaling pathway
GO:0046427 positive regulation of JAK-STAT cascade
GO:0046686 response to cadmium ion
GO:0046777 protein autophosphorylation
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:0097067 cellular response to thyroid hormone stimulus
GO:0097324 melanocyte migration
GO:0097326 melanocyte adhesion
GO:1904251 regulation of bile acid metabolic process
GO:1904343 positive regulation of colon smooth muscle contraction
GO:1904349 positive regulation of small intestine smooth muscle contraction
GO:1905065 positive regulation of vascular smooth muscle cell differentiation

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:0016020 membrane
GO:0016021 integral component of membrane
GO:0042629 mast cell granule


-  Descriptions from all associated GenBank mRNAs
  AK046795 - Mus musculus 10 days neonate medulla oblongata cDNA, RIKEN full-length enriched library, clone:B830009P17 product:kit oncogene, full insert sequence.
AK047010 - Mus musculus 10 days neonate cerebellum cDNA, RIKEN full-length enriched library, clone:B930010O12 product:kit oncogene, full insert sequence.
BC026713 - Mus musculus kit oncogene, mRNA (cDNA clone IMAGE:5008623).
BC075716 - Mus musculus kit oncogene, mRNA (cDNA clone MGC:78140 IMAGE:3673641), complete cds.
BC052457 - Mus musculus kit oncogene, mRNA (cDNA clone MGC:63313 IMAGE:6830637), complete cds.
Y00864 - Mouse c-kit mRNA.
AY536430 - Mus musculus proto-oncogene c-kit (Kit) mRNA, complete cds.
AY536431 - Mus musculus mutant proto-oncogene c-kit (Kit) mRNA, complete cds.
AK145462 - Mus musculus cDNA, RIKEN full-length enriched library, clone:I0C0048O08 product:kit oncogene, full insert sequence.
X65997 - M.musculus c-kit mRNA for truncated tyrosine-kinase.
AK047175 - Mus musculus 10 days neonate cerebellum cDNA, RIKEN full-length enriched library, clone:B930031O14 product:unclassifiable, full insert sequence.
EF472963 - Mus musculus strain CD1 KIT oncogene (Kit) mRNA, complete cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
mmu04060 - Cytokine-cytokine receptor interaction
mmu04144 - Endocytosis
mmu04640 - Hematopoietic cell lineage
mmu04916 - Melanogenesis
mmu05200 - Pathways in cancer
mmu05221 - Acute myeloid leukemia

BioCarta from NCI Cancer Genome Anatomy Project
m_badPathway - Regulation of BAD phosphorylation
m_melanocytepathway - Melanocyte Development and Pigmentation Pathway

Reactome (by CSHL, EBI, and GO)

Protein P05532 (Reactome details) participates in the following event(s):

R-MMU-205231 Dimerization of KIT upon SCF binding
R-MMU-205321 Interaction of KIT and sSCF
R-MMU-1433423 PTP-RO interacts with p-c-Kit complex
R-MMU-1433508 PKC alpha interacts with and phosphorylates KIT
R-MMU-1433273 Interaction of Src kinases with c-Kit
R-MMU-1470014 Downregulation of c-Kit signaling by Socs6
R-MMU-1524177 Socs1 as a regulator of kit signaling
R-MMU-205289 Autophosphorylation of KIT
R-MMU-205262 Direct recruitment of PI3K to p-KIT
R-MMU-205286 GRB2:SOS interacts with p-KIT
R-MMU-205306 Interaction of SHP1 and KIT
R-MMU-205328 Interaction of other tyrosine kinases with p-KIT
R-MMU-1433501 Interaction of other adapter proteins with p-KIT
R-MMU-1562640 LNK binds to p-KIT and inhibit downstream signaling
R-MMU-205238 SHP2 interacts with p-KIT
R-MMU-1433451 JAK2 binds to p-KIT
R-MMU-1472121 Phosphorylation of p-KIT on Y900 by Src kinases
R-MMU-1433428 GRB2 is indirectly recruited to p-KIT through SHP2
R-MMU-1433488 Phosphorylation of SHP2 by SFKs
R-MMU-1433506 Phosphorylation of APS
R-MMU-1433418 Phosphorylation of JAK2
R-MMU-1433456 Recruitment of STATs
R-MMU-1470012 Disassociation and translocation of STATs to the nucleus
R-MMU-1470010 Dimerization of STATs
R-MMU-1433542 Phosphorylation and activation of VAV1
R-MMU-205244 Recruitment of CBL to KIT
R-MMU-1433471 Activation of RAS by p-KIT bound SOS1
R-MMU-205234 Indirect recruitment of GAB2 to p-KIT
R-MMU-5672965 RAS GEFs promote RAS nucleotide exchange
R-MMU-1433514 Synthesis of PIP3 from PIP2 by PI3K
R-MMU-2316434 PI3K phosphorylates PIP2 to PIP3
R-MMU-1562641 Indirect recruitment of PI3K to KIT via p(Y)-GAB2
R-MMU-1433557 Signaling by SCF-KIT
R-MMU-1433559 Regulation of KIT signaling
R-MMU-9006934 Signaling by Receptor Tyrosine Kinases
R-MMU-162582 Signal Transduction
R-MMU-5673001 RAF/MAP kinase cascade
R-MMU-1257604 PIP3 activates AKT signaling
R-MMU-6811558 PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-MMU-5684996 MAPK1/MAPK3 signaling
R-MMU-9006925 Intracellular signaling by second messengers
R-MMU-199418 Negative regulation of the PI3K/AKT network
R-MMU-5683057 MAPK family signaling cascades

-  Other Names for This Gene
  Alternate Gene Symbols: KIT_MOUSE, NM_021099, P05532, Q61415, Q61416, Q61417, Q6LEE9, Q6QJB7, Q6QJB8, Q7TS86, Q8C8K9, Sl, uc012dxj.1, uc012dxj.2, uc012dxj.3
UCSC ID: uc012dxj.3
RefSeq Accession: NM_001122733
Protein: P05532 (aka KIT_MOUSE)
CCDS: CCDS51525.1, CCDS80302.1

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.