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

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: mouse all
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Genomic context

Location:: 4q12

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
109.20210226	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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Coexpression of CD71 and CD117 Identifies an Early Unipotent Neutrophil Progenitor Population in Human Bone Marrow.
Title: Coexpression of CD71 and CD117 Identifies an Early Unipotent Neutrophil Progenitor Population in Human Bone Marrow.
A case of planar-type GIST of the sigmoid colon showing diverticular structure with perforation.
Title: A case of planar-type GIST of the sigmoid colon showing diverticular structure with perforation.
New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood.
Title: New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood.
Characterization of a distinct low-grade oncocytic renal tumor (CD117-negative and cytokeratin 7-positive) based on a tertiary oncology center experience: the new evidence from China.
Title: Characterization of a distinct low-grade oncocytic renal tumor (CD117-negative and cytokeratin 7-positive) based on a tertiary oncology center experience: the new evidence from China.
Morphological Correlates of KIT and PDGFRA Genotypes in Gastrointestinal Stromal Tumour.", trans "Morphological Correlates of KIT and PDGFRA Genotypes in Gastrointestinal Stromal Tumour.
Title: Morphological Correlates of KIT and PDGFRA Genotypes in Gastrointestinal Stromal Tumour.
CD117 Is a Specific Marker of Intraductal Papillary Mucinous Neoplasms (IPMN) of the Pancreas, Oncocytic Subtype.
Title: CD117 Is a Specific Marker of Intraductal Papillary Mucinous Neoplasms (IPMN) of the Pancreas, Oncocytic Subtype.
Persistent Human KIT Receptor Signaling Disposes Murine Placenta to Premature Differentiation Resulting in Severely Disrupted Placental Structure and Functionality.
Title: Persistent Human KIT Receptor Signaling Disposes Murine Placenta to Premature Differentiation Resulting in Severely Disrupted Placental Structure and Functionality.
KIT Mutation Incidence and Pattern of Melanoma in Central Europe.
Title: KIT Mutation Incidence and Pattern of Melanoma in Central Europe.
A shift of dynamic equilibrium between the KIT active and inactive states causes drug resistance.
Title: A shift of dynamic equilibrium between the KIT active and inactive states causes drug resistance.
Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.
Title: Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.

Submit: New GeneRIF Correction See all GeneRIFs (927)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626	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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-67781 (e-PCR)
- UniSTS:853

GDB:512789 (e-PCR)
- UniSTS:157531

STS-N21003 (e-PCR)
- UniSTS:21855

GDB:181531 (e-PCR)
- UniSTS:155257

SHGC-12679 (e-PCR)
- UniSTS:62849

SHGC4-128 (e-PCR)
- UniSTS:79238

GDB:250632 (e-PCR)
- UniSTS:156301

GDB:626073 (e-PCR)
- UniSTS:158385

SHGC-50170 (e-PCR)
- UniSTS:72370

GDB:626077 (e-PCR)
- UniSTS:158386

GDB:626080 (e-PCR)
- UniSTS:158387

Kit (e-PCR), detects polymorphism
- UniSTS:527042

G15879 (e-PCR)
- UniSTS:79825

Homology

Homologs of the KIT gene: The KIT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 351 organisms have orthologs with human gene KIT
Orthologs

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
multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 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 population 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 kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
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 receptor signaling pathway via JAK-STAT	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of receptor signaling pathway via JAK-STAT	IMP Inferred from Mutant Phenotype more info	PubMed
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 associated 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 population 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
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

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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

EC 2.7.10.1

NP_001087241.1

EC 2.7.10.1

NP_001372213.1

EC 2.7.10.1

NP_001372214.1

EC 2.7.10.1

NP_001372215.1

EC 2.7.10.1

NP_001372217.1

EC 2.7.10.1

NP_001372219.1

EC 2.7.10.1

NP_001372221.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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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

NG_007456.1 RefSeqGene

Range

4935..87721

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_307

mRNA and Protein(s)

NM_000222.3 → NP_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

ENSP00000288135.5, ENST00000288135.5

Conserved Domains (6) summary

cd00096
Location:426 → 505

Ig; Immunoglobulin domain

cd05860
Location:311 → 411

Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

smart00410
Location:220 → 307

IG_like; Immunoglobulin like

cd05104
Location:553 → 928

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 305

ig; Immunoglobulin domain

pfam07714
Location:589 → 924

Pkinase_Tyr; Protein tyrosine kinase
NM_001093772.2 → NP_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:426 → 505

Ig; Immunoglobulin domain

cd05860
Location:311 → 411

Ig4_SCFR; Fourth immunoglobulin (Ig)-like domain of stem cell factor receptor (SCFR)

smart00410
Location:220 → 307

IG_like; Immunoglobulin like

cd05104
Location:549 → 924

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

pfam00047
Location:216 → 305

ig; Immunoglobulin domain

pfam07714
Location:585 → 920

Pkinase_Tyr; Protein tyrosine kinase
NM_001385284.1 → NP_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
NM_001385285.1 → NP_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
NM_001385286.1 → NP_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
NM_001385288.1 → NP_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
NM_001385290.1 → NP_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
NM_001385292.1 → NP_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