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KIT KIT proto-oncogene, receptor tyrosine kinase [ Homo sapiens (human) ]

Gene ID: 3815, updated on 13-Jan-2020

Summary

Official Symbol
KITprovided by HGNC
Official Full Name
KIT proto-oncogene, receptor tyrosine kinaseprovided by HGNC
Primary source
HGNC:HGNC:6342
See related
Ensembl:ENSG00000157404 MIM:164920
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; MASTC
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]
Expression
Broad expression in thyroid (RPKM 30.0), ovary (RPKM 23.0) and 21 other tissues See more
Orthologs

Genomic context

See KIT in Genome Data Viewer
Location:
4q12
Exon count:
21
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (54657928..54740715)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (55524095..55606881)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr4.1581 Neighboring gene long intergenic non-protein coding RNA 2260 Neighboring gene uncharacterized LOC105377657 Neighboring gene long intergenic non-protein coding RNA 2358

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Acute myeloid leukemia Compare labs
Gastrointestinal stroma tumor
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
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
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

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Nef 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
Tat tat HIV-1 Tat downregulates the expression of v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT; CD117) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
SH2 domain binding IEA
Inferred from Electronic Annotation
more info
 
cytokine binding IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
PubMed 
stem cell factor receptor activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
B cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Fc receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Kit signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Kit signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
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
PubMed 
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
PubMed 
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
 
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
 
germ cell migration IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
hematopoietic progenitor cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hematopoietic stem cell migration 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
 
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
PubMed 
mast cell cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
mast cell degranulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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
PubMed 
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
 
ovarian follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
pigmentation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of JAK-STAT cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of JAK-STAT cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of MAP kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of cell proliferation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of colon smooth muscle contraction 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 protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of pseudopodium assembly IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pyloric antrum smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of small intestine smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of vascular smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of bile acid metabolic process IEA
Inferred from Electronic Annotation
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 transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
somatic stem cell population 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 population maintenance TAS
Traceable Author Statement
more info
PubMed 
tongue development IEA
Inferred from Electronic Annotation
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
cell-cell junction 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 
fibrillar center IDA
Inferred from Direct Assay
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mast cell granule IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
mast/stem cell growth factor receptor Kit
Names
c-Kit protooncogene
p145 c-kit
piebald trait protein
proto-oncogene c-Kit
proto-oncogene tyrosine-protein kinase Kit
soluble KIT variant 1
tyrosine-protein kinase Kit
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene-like protein
NP_000213.1
NP_001087241.1
XP_005265797.1
XP_005265798.1
XP_005265799.1
XP_016863667.1
XP_016863668.1
XP_016863669.1

NCBI Reference Sequences (RefSeq)

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_000222.3NP_000213.1  mast/stem cell growth factor receptor Kit isoform 1 precursor

    See identical proteins and their annotated locations for 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
    UniProtKB/TrEMBL
    A0A024RDA0
    Related
    ENSP00000288135.5, ENST00000288135.5
    Conserved Domains (6) summary
    cd00096
    Location:426505
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220307
    IG_like; Immunoglobulin like
    cd05104
    Location:553928
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216305
    ig; Immunoglobulin domain
    pfam07714
    Location:589924
    Pkinase_Tyr; Protein tyrosine kinase
  2. NM_001093772.1NP_001087241.1  mast/stem cell growth factor receptor Kit isoform 2 precursor

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000390987.2, ENST00000412167.6
    Conserved Domains (6) summary
    cd00096
    Location:426505
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220307
    IG_like; Immunoglobulin like
    cd05104
    Location:549924
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216305
    ig; Immunoglobulin domain
    pfam07714
    Location:585920
    Pkinase_Tyr; Protein tyrosine kinase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005265740.1XP_005265797.1  mast/stem cell growth factor receptor Kit isoform X1

    Conserved Domains (6) summary
    cd00096
    Location:427506
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    IG_like; Immunoglobulin like
    cd05104
    Location:554929
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    pfam07714
    Location:590925
    Pkinase_Tyr; Protein tyrosine kinase
  2. XM_005265741.1XP_005265798.1  mast/stem cell growth factor receptor Kit isoform X2

    Conserved Domains (6) summary
    cd00096
    Location:427506
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    IG_like; Immunoglobulin like
    cd05104
    Location:554928
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    pfam07714
    Location:590924
    Pkinase_Tyr; Protein tyrosine kinase
  3. XM_005265742.3XP_005265799.1  mast/stem cell growth factor receptor Kit isoform X4

    Conserved Domains (6) summary
    cd00096
    Location:427506
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220308
    IG_like; Immunoglobulin like
    cd05104
    Location:550925
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    pfam07714
    Location:586921
    Pkinase_Tyr; Protein tyrosine kinase
  4. XM_017008179.1XP_016863668.1  mast/stem cell growth factor receptor Kit isoform X5

  5. XM_017008178.1XP_016863667.1  mast/stem cell growth factor receptor Kit isoform X3

  6. XM_017008180.1XP_016863669.1  mast/stem cell growth factor receptor Kit isoform X6

    UniProtKB/TrEMBL
    A0A0U2N547
    Conserved Domains (6) summary
    cd00096
    Location:426505
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)
    smart00410
    Location:220307
    IG_like; Immunoglobulin like
    cd05104
    Location:549923
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216305
    ig; Immunoglobulin domain
    pfam07714
    Location:585919
    Pkinase_Tyr; Protein tyrosine kinase
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