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

Gene ID: 3815, updated on 3-Oct-2021

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 a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]
Expression
Broad expression in thyroid (RPKM 30.0), ovary (RPKM 23.0) and 21 other tissues See more
Orthologs
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Genomic context

See KIT in Genome Data Viewer
Location:
4q12
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (54657957..54740715)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (55524124..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 stromal tumor
MedGen: C0238198 OMIM: 606764 GeneReviews: Not available
Compare labs
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Germ cell tumor of testis
MedGen: C1336708 OMIM: 273300 GeneReviews: Not available
Compare labs
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
GeneReviews: Not available
Mastocytosis
MedGen: C0024899 OMIM: 154800 GeneReviews: Not available
Compare labs
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
Partial albinism
MedGen: C0080024 OMIM: 172800 GeneReviews: Not available
Compare labs
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available

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
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables SH2 domain binding IEA
Inferred from Electronic Annotation
more info
 
enables cytokine binding IDA
Inferred from Direct Assay
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protease binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
enables stem cell factor receptor activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in B cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Fc receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Kit signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in Kit signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in actin cytoskeleton reorganization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to thyroid hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in cytokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in detection of mechanical stimulus involved in sensory perception of sound ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in digestive tract development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ectopic germ cell programmed cell death IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic hemopoiesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in epithelial cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in erythrocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in erythropoietin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in germ cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in glycosphingolipid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in hematopoietic progenitor cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in hematopoietic stem cell migration IEA
Inferred from Electronic Annotation
more info
 
involved_in hemopoiesis TAS
Traceable Author Statement
more info
PubMed 
involved_in immature B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
involved_in lamellipodium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lymphoid progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in mast cell chemotaxis IDA
Inferred from Direct Assay
more info
PubMed 
involved_in mast cell degranulation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mast cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in mast cell differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in mast cell proliferation TAS
Traceable Author Statement
more info
PubMed 
involved_in megakaryocyte development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in melanocyte adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in melanocyte differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in melanocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in melanocyte migration ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in myeloid progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of programmed cell death IEA
Inferred from Electronic Annotation
more info
 
involved_in ovarian follicle development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in pigmentation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of MAP kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of MAPK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of colon smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of dendritic cell cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of long-term neuronal synaptic plasticity IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of mast cell cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase activity TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of phosphatidylinositol 3-kinase signaling TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of phospholipase C activity TAS
Traceable Author Statement
more info
PubMed 
involved_in positive regulation of pseudopodium assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of pyloric antrum smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of receptor signaling pathway via JAK-STAT IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of receptor signaling pathway via JAK-STAT IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of small intestine smooth muscle contraction IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of tyrosine phosphorylation of STAT protein IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of vascular associated smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of bile acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of cell population proliferation TAS
Traceable Author Statement
more info
PubMed 
involved_in regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in somatic stem cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in somatic stem cell population maintenance IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatid development IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in spermatogenesis TAS
Traceable Author Statement
more info
PubMed 
involved_in stem cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in stem cell population maintenance TAS
Traceable Author Statement
more info
PubMed 
involved_in tongue development IEA
Inferred from Electronic Annotation
more info
 
involved_in transmembrane receptor protein tyrosine kinase signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in visual learning IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasmic side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
is_active_in integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of 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
NP_001372213.1
NP_001372214.1
NP_001372215.1
NP_001372217.1
NP_001372219.1
NP_001372221.1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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) uses an alternate in-frame splice site in the coding region, compared to variant 3, resulting in a shorter protein (isoform 1). Isoforms 1 and 7 have identical lengths but distinct sequences.
    Source sequence(s)
    BC071593, DC376760, X06182
    Consensus CDS
    CCDS3496.1
    UniProtKB/Swiss-Prot
    P10721
    UniProtKB/TrEMBL
    A0A024RDA0
    Related
    ENSP00000288135.6, ENST00000288135.6
    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: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_001093772.2NP_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 two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 2). Isoforms 2 and 8 have identical lengths but distinct sequences.
    Source sequence(s)
    AC006552, AC092545
    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
  3. NM_001385284.1NP_001372213.1  mast/stem cell growth factor receptor Kit isoform 3 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC006552, AC092545
    Conserved Domains (4) summary
    cd05104
    Location:554929
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    cd00096
    Location:427503
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
  4. NM_001385285.1NP_001372214.1  mast/stem cell growth factor receptor Kit isoform 4 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 4).
    Source sequence(s)
    AC006552, AC092545
    Conserved Domains (4) summary
    cd05104
    Location:553927
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216305
    ig; Immunoglobulin domain
    cd00096
    Location:426502
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
  5. NM_001385286.1NP_001372215.1  mast/stem cell growth factor receptor Kit isoform 5 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 5).
    Source sequence(s)
    AC006552, AC092545
    Conserved Domains (4) summary
    cd05104
    Location:549923
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216305
    ig; Immunoglobulin domain
    cd00096
    Location:426502
    Ig; Immunoglobulin domain
    cd05860
    Location:311411
    IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
  6. NM_001385288.1NP_001372217.1  mast/stem cell growth factor receptor Kit isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice site in the coding region, compared to variant 3, resulting in a shorter protein (isoform 6).
    Source sequence(s)
    AC006552, AC092545
    Conserved Domains (4) summary
    cd05104
    Location:550925
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    cd00096
    Location:427503
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
  7. NM_001385290.1NP_001372219.1  mast/stem cell growth factor receptor Kit isoform 7 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate in-frame splice site in the coding region, compared to variant 3, resulting in a shorter protein (isoform 7). Isoforms 1 and 7 have identical lengths but distinct sequences.
    Source sequence(s)
    AC006552, AC092545
    Conserved Domains (4) summary
    cd05104
    Location:554928
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    cd00096
    Location:427503
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains
  8. NM_001385292.1NP_001372221.1  mast/stem cell growth factor receptor Kit isoform 8 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses two alternate in-frame splice sites in the coding region, compared to variant 3, resulting in a shorter protein (isoform 8). Isoforms 2 and 8 have identical lengths but distinct sequences.
    Source sequence(s)
    AC006552, AC092545
    Conserved Domains (4) summary
    cd05104
    Location:550924
    PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit
    pfam00047
    Location:216306
    ig; Immunoglobulin domain
    cd00096
    Location:427503
    Ig; Immunoglobulin domain
    cd05860
    Location:312412
    IgI_4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR); member of the I-set of IgSF domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    54657957..54740715
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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