KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog [ Homo sapiens ]

Gene ID: 3815, updated on 20-May-2012

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Summary

Official Symbol: KITprovided by HGNC
Official Full Name: v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homologprovided by HGNC
Primary source: HGNC:6342
See related: Ensembl:ENSG00000157404; HPRD:01287; MIM:164920; Vega:OTTHUMG00000128713
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
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]

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Genomic context

Location :: 4q11-q12

Sequence :: Chromosome: 4; NC_000004.11 (55524095..55606881)

See KIT in Epigenomics, MapViewer

Chromosome 4 - NC_000004.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Vascular invasion and CD117 immunoreactivity were independent prognostic markers for colorectal poorly differentiated neuro-endocrine carcinomas and mixed adeno-neuroendocrine carcinomas.
Title: Colorectal poorly differentiated neuroendocrine carcinomas and mixed adenoneuroendocrine carcinomas: insights into the diagnostic immunophenotype, assessment of methylation profile, and search for prognostic markers.
Our findings indicate a lack of correlation between immunohistochemical expression of CKIT and KIT mutations in atypical acral nevi.
Title: Lack of correlation between immunohistochemical expression of CKIT and KIT mutations in atypical acral nevi.
The c-KIT expression-based classification is highly accurate and may provide a tool to overcome the difficulties in preoperative diagnosis of thyroid suspicious malignancies.
Title: c-KIT receptor expression is strictly associated with the biological behaviour of thyroid nodules.
Report protein expression and gene mutation status of KIT in renal cell carcinoma.
Title: Protein expression and gene mutation status of KIT and PDGFRA in renal cell carcinoma.
These results suggest that Rab27b negatively regulates the cell surface expression of c-kit via secretion of SCF and that ligation of SCF leads to the endolysosomal degradation system of c-kit.
Title: Rab27b regulates c-kit expression by controlling the secretion of stem cell factor.
Data suggest that c-kit is an important regulator of IL-1 receptor 1/IL-1beta signaling and effector functions in mast cells; such signaling is IL-relevant for IL-6 release.
Title: C-Kit controls IL-1β-induced effector functions in HMC-cells.
Data indicate that the c-Kit signalling network has potential as a target for therapy and/or prevention in BRCA1-associated breast cancer.
Title: c-Kit is required for growth and survival of the cells of origin of Brca1-mutation-associated breast cancer.
Mutational analysis reveals a novel mutation of KIT in exon 11 (K558N_V559insP) in metastatic pancreatic neuroendocrine tumor. High expression of KIT was significantly correlated with shorter patient survival.
Title: High KIT and PDGFRA are associated with shorter patients survival in gastroenteropancreatic neuroendocrine tumors, but mutations are a rare event.
activity in desmoid tumors variable
Title: Immunohistochemical and molecular analysis of tyrosine kinase activity in desmoid tumors.
There was statistically significant difference in KIT expression between clinically non-functioning, growth hormone- and adrenocorticotroph hormone-producing adenomas
Title: KIT protein expression and mutational status of KIT gene in pituitary adenomas.

Submit: New GeneRIF Correction See all (468)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Gastrointestinal stromal tumor, somatic

MIM: 606764

Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

HIV-1 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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000213.1	NP_002077.1	GRB2	BIND	PubMed	Kit interacts with Grb2. This interaction was modeled on a demonstrated interaction between mouse proteins.
NP_000213.1	NP_002077.1	GRB2	BIND	PubMed	Grb2 interacts with c-Kit upon stimulation with SLF. This interaction was modeled on a demonstrated interaction between mouse Grb2 and human c-Kit.
NP_000213.1	AAB50019.1	LYN	BIND	PubMed	c-Kit interacts with p53Lyn.
NP_000213.1	NP_002341.1	LYN	BIND	PubMed	c-Kit interacts with p56Lyn.
NP_000213.1	NP_852664.1	PIK3R1	BIND	PubMed	Kit interacts with p85-alpha. This interaction was modeled on a demonstrated interaction between mouse proteins
NP_000213.1	NP_005018.1	PIK3R2	BIND	PubMed	Kit interacts with p85-beta. This interaction was modeled on a demonstrated interaction between mouse proteins.
NP_000213.1	NP_002651.2	PLCG1	BIND	PubMed	Kit interacts with PLC-gamma. This interaction was modeled on a demonstrated interaction between mouse proteins.
NP_000213.1	NP_002825.3	PTPN11	BIND	PubMed	Syp interacts with c-Kit via its SH2 domain.
NP_000213.1	NP_003736.1	SOCS1	BIND	PubMed	Socs1 interacts with Kit. This interaction was modeled on a demonstrated interaction between mouse proteins
NP_000213.1	NP_009330.1	STAT1	BIND	PubMed	STAT1-alpha interacts with c-kit
P10721	P00519	ABL1	HPRD	PubMed
P10721	Q06187	BTK	HPRD	PubMed
P10721	P22681	CBL	HPRD	PubMed
P10721	Q13191	CBLB	HPRD	PubMed
P10721	P60033	CD81	HPRD	PubMed
P10721	P21926	CD9	HPRD	PubMed
P10721	Q9NSE2	CISH	HPRD	PubMed
P10721	Q00610	CLTC	HPRD	PubMed
P10721	P46108	CRK	HPRD	PubMed
P10721	P46109	CRKL	HPRD	PubMed
P10721	P15509	CSF2RA	HPRD	PubMed
P10721	P32927	CSF2RB	HPRD	PubMed
P10721	Q99704	DOK1	HPRD	PubMed
P10721	P19235	EPOR	HPRD	PubMed
P10721	P06241	FYN	HPRD	PubMed
P10721	Q13588	GRAP	HPRD	PubMed
P10721	O75791	GRAP2	HPRD	PubMed
P10721	Q13322	GRB10	HPRD	PubMed
P10721	P62993	GRB2	HPRD	PubMed
P10721	Q14451	GRB7	HPRD	PubMed
P10721	P08631	HCK	HPRD	PubMed
P10721	O00145	INPP5D	HPRD	PubMed
P10721	O60674	JAK2	HPRD	PubMed
P10721	P10721	KIT	HPRD	PubMed
P10721	P21583	KITLG	HPRD	PubMed
P10721	P06239	LCK	HPRD	PubMed
P10721	P07948	LYN	HPRD	PubMed
P10721	P42679	MATK	HPRD	PubMed
P10721	O75970	MPDZ	HPRD	PubMed
P10721	P48736	PIK3CG	HPRD	PubMed
P10721	P27986	PIK3R1	HPRD	PubMed
P10721	O00459	PIK3R2	HPRD	PubMed
P10721	Q9P212	PLCE1	HPRD	PubMed
P10721	P19174	PLCG1	HPRD	PubMed
P10721	P17252	PRKCA	HPRD	PubMed
P10721	P05771	PRKCB	HPRD	PubMed
P10721	Q06124	PTPN11	HPRD	PubMed
P10721	P29350	PTPN6	HPRD	PubMed
P10721	Q16827	PTPRO	HPRD	PubMed
P10721	Q92729	PTPRU	HPRD	PubMed
P10721	P20936	RASA1	HPRD	PubMed
P10721	O14492	SH2B2	HPRD	PubMed
P10721	Q9UQQ2	SH2B3	HPRD	PubMed
P10721	O15524	SOCS1	HPRD	PubMed
P10721	O75159	SOCS5	HPRD	PubMed
P10721	O14544	SOCS6	HPRD	PubMed
P10721	Q7Z699	SPRED1	HPRD	PubMed
P10721	Q7Z698	SPRED2	HPRD	PubMed
P10721	P12931	SRC	HPRD	PubMed
P10721	BCR downstream signaling 1	STAP1	HPRD	PubMed
P10721	P42224	STAT1	HPRD	PubMed
P10721	P42229	STAT5A	HPRD	PubMed
P10721	P51692	STAT5B	HPRD	PubMed
P10721	P42680	TEC	HPRD	PubMed
P10721	P07947	YES1	HPRD	PubMed
BioGRID:110015	BioGRID:107083	BCR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107316	CBLB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107405	CD63	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107413	CD81	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107366	CD9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107623	CLTC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:107789	CRKL	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:108131	DOK1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:115973	GRAP	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:109144	GRB10	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:109143	GRB7	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:109847	INPP5D	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:109920	JAK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:110410	KITLG	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:110124	LCK	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:110245	LYN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:110315	MATK	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:114307	MPDZ	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:111313	PIK3R1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110015	BioGRID:111314	PIK3R2	BioGRID	PubMed	Two-hybrid
BioGRID:110015	BioGRID:111351	PLCG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:110015	BioGRID:111745	PTPN11	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:111742	PTPN6	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:111764	PTPRO	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:111913	RFC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:119029	SH3KBP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:114203	SOCS1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:110015	BioGRID:114719	SOCS6	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Co-crystal Structure
BioGRID:110015	BioGRID:112649	STAT1	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Reconstituted Complex
BioGRID:110015	BioGRID:112865	TEC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:110015	BioGRID:204403	Ubc	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110015	BioGRID:113357	YES1	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
cytokine binding	IDA Inferred from Direct Assay more info
metal ion binding	IEA Inferred from Electronic Annotation more info
nucleotide 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
protein tyrosine kinase activity	TAS Traceable Author Statement more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
receptor signaling 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	IDA Inferred from Direct Assay more info

Process	Evidence Code	Pubs
activation of MAPK activity	IDA Inferred from Direct Assay more info
cytokine-mediated signaling pathway	IDA Inferred from Direct Assay more info
germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
glycosphingolipid metabolic process	IEA Inferred from Electronic Annotation more info
hemopoiesis	TAS Traceable Author Statement more info	PubMed
intracellular protein kinase cascade	IEA Inferred from Electronic Annotation 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 differentiation	TAS Traceable Author Statement more info	PubMed
mast cell proliferation	TAS Traceable Author Statement more info
melanocyte differentiation	TAS Traceable Author Statement 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
peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info
positive regulation of JAK-STAT cascade	IMP Inferred from Mutant Phenotype more info
positive regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info
positive regulation of cell proliferation	IEA Inferred from Electronic Annotation more info
positive regulation of gene expression	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 cascade	TAS Traceable Author Statement more info	PubMed
positive regulation of phospholipase C activity	TAS Traceable Author Statement more info	PubMed
positive regulation of sequence-specific DNA binding transcription factor activity	IMP Inferred from Mutant Phenotype more info
positive regulation of tyrosine phosphorylation of Stat1 protein	IMP Inferred from Mutant Phenotype more info
positive regulation of tyrosine phosphorylation of Stat3 protein	IMP Inferred from Mutant Phenotype more info
positive regulation of tyrosine phosphorylation of Stat5 protein	IMP Inferred from Mutant Phenotype more info
protein autophosphorylation	IDA Inferred from Direct Assay more info
regulation of cell proliferation	TAS Traceable Author Statement more info	PubMed
regulation of developmental pigmentation	IEA Inferred from Electronic Annotation more info
response to radiation	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed
signal transduction by phosphorylation	TAS Traceable Author Statement more info	PubMed
spermatid development	IEA Inferred from Electronic Annotation more info
spermatogenesis	TAS Traceable Author Statement more info	PubMed
stem cell maintenance	TAS Traceable Author Statement more info
transmembrane receptor protein tyrosine kinase signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: mast/stem cell growth factor receptor Kit

Names: mast/stem cell growth factor receptor Kit; p145 c-kit; proto-oncogene c-Kit; piebald trait protein; soluble KIT variant 1; tyrosine-protein kinase Kit; proto-oncogene tyrosine-protein kinase Kit; 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

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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

NG_007456.1 RefSeqGene

Range

4935..87721

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000222.2 → NP_000213.1 mast/stem cell growth factor receptor Kit isoform 1 precursor

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

Related

ENSP00000288135, OTTHUMP00000158901, ENST00000288135, OTTHUMT00000250618

Conserved Domains (4) summary

cd05104
Location:553 – 928
Blast Score: 2048

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

cd00096
Location:230 – 304
Blast Score: 113

Ig; Immunoglobulin domain

cd05860
Location:311 – 411
Blast Score: 486

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

cl11960
Location:44 – 111
Blast Score: 103

Ig; Immunoglobulin domain
NM_001093772.1 → NP_001087241.1 mast/stem cell growth factor receptor Kit isoform 2 precursor

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, OTTHUMP00000218587, ENST00000412167, OTTHUMT00000361417

Conserved Domains (4) summary

cd05104
Location:549 – 924
Blast Score: 2047

PTKc_Kit; Catalytic domain of the Protein Tyrosine Kinase, Kit

cd00096
Location:230 – 304
Blast Score: 113

Ig; Immunoglobulin domain

cd05860
Location:311 – 411
Blast Score: 486

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

cl11960
Location:44 – 111
Blast Score: 103

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000004.11 Reference GRCh37.p5 Primary Assembly

Range

55524095..55606881

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000136.1 Alternate HuRef

Range

51471979..51554769

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC006552.7 (143624..183392)	None
genomic	AC092545.3	None
genomic	CH471057.1	EAX05460.1
		EAX05461.1
genomic	CS117948.1	CAJ15130.1
genomic	CS479297.1	CAM35390.1
genomic	CS542496.1	CAM91185.1
genomic	GM868983.1	CAT16960.1
genomic	L04143.1	None
genomic	S67773.1	AAB29529.1
genomic	S68472.1	AAB29301.1
genomic	U63834.1	AAC50968.1
		AAC50969.1
genomic	X65959.1	CAA46771.1
		CAA46772.1
genomic	X69301.1	CAA49159.1
mRNA	AJ438313.1	CAD27356.1
mRNA	AK304031.1	BAG64945.1
mRNA	BC071593.1	AAH71593.1
mRNA	CN414753.1	None
mRNA	DC376760.1	None
mRNA	EU826594.1	ACF47630.1
mRNA	GU983671.1	ADF36702.1
mRNA	HM015525.1	ADF50068.1
mRNA	HM015526.1	ADF50069.1
mRNA	HM030712.1	ADF50070.1
mRNA	HM030713.1	ADF50071.1
mRNA	HM437240.1	ADN43071.1
mRNA	X06182.1	CAA29548.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P10721.1	GenPept	UniProtKB/Swiss-Prot:P10721
Q14708	GenPept	UniProtKB/TrEMBL:Q14708
Q14709	GenPept	UniProtKB/TrEMBL:Q14709
Q8TCG9	GenPept	UniProtKB/TrEMBL:Q8TCG9