GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

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KIT (KIT proto-oncogene, receptor tyrosine kinase)

Gene

3815

KIT proto-oncogene, receptor tyrosine kinase

KIT

C-Kit, CD117, MASTC, PBT, SCFR

4q12

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

Show/Hide all(77)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933371	T>G	Pathogenic	Missense variant, coding sequence variant
rs121913234	AAACCCATGTATGAAGTACAGTGGAAG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs121913235	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913505	G>A	Likely-benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913506	G>A,C,T	Other, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913507	A>T	Other, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913509	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913512	A>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913513	T>C	Not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913514	T>A,G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913516	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121913517	T>A,C,G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913520	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913521	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913523	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913524	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913679	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913680	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913682	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913684	A>G	Pathogenic	Missense variant, coding sequence variant
rs121913685	TTGTTG>-,TTG	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs121913687	A>C	Pathogenic	Missense variant, coding sequence variant
rs200375589	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs387907217	T>C	Pathogenic	Coding sequence variant, missense variant
rs587776804	CCATGTATGAAGTAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs753212327	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs763308199	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs773828910	G>A,C	Drug-response, uncertain-significance	Coding sequence variant, missense variant
rs794726671	T>C,G	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs794726672	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794726673	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794726674	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794726675	G>A	Pathogenic	Splice donor variant
rs869025568	TGGAAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs886042030	CTTT>-	Pathogenic	Coding sequence variant, stop gained
rs993022333	A>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519701	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519702	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057519703	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1057519704	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057519705	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057519706	T>G	Pathogenic	Coding sequence variant, missense variant
rs1057519707	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1057519708	T>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057519709	GA>AT	Pathogenic	Coding sequence variant, missense variant
rs1057519710	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs1057519711	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057519713	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057519761	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519907	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520031	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520032	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1057520033	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520035	GG>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs1060502521	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502543	GAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1131692239	CTTATGATC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1301704156	G>A	Likely-pathogenic	Splice donor variant
rs1306680919	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553887262	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553887960	TCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553890995	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1560395607	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560417385	CCATGTATGAAGTACAGTGGA>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1560417396	CATGTATG>AA	Likely-pathogenic	Inframe indel, coding sequence variant
rs1560417427	ACAGTGGA>CC	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1560417438	GTGGAAGGTTGTTGAGGAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1560417535	TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1560417642	->ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1560417666	->CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1560417673	->ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1560418178	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1560419312	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1560420761	AC>-	Pathogenic	Stop gained, coding sequence variant
rs1577992594	A>T	Pathogenic	Coding sequence variant, missense variant
rs1577995761	A>G	Likely-pathogenic	Splice acceptor variant
rs1578003055	G>A	Likely-pathogenic	Splice acceptor variant

Show/Hide all(134)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001780	hsa-miR-221-3p	qRT-PCR, Western blot	19126397
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay	18246122
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay	18983236
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay	18246122
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay	18983236
MIRT001780	hsa-miR-221-3p	Review	20130964
MIRT001779	hsa-miR-222-3p	Review	20130964
MIRT001780	hsa-miR-221-3p	Review	20029422
MIRT001779	hsa-miR-222-3p	Review	20029422
MIRT001780	hsa-miR-221-3p	qRT-PCR, Western blot	18417445
MIRT001779	hsa-miR-222-3p	qRT-PCR, Western blot	18417445
MIRT001780	hsa-miR-221-3p	Northern blot, qRT-PCR, Western blot	16365291
MIRT001779	hsa-miR-222-3p	Northern blot, qRT-PCR, Western blot	16365291
MIRT005371	hsa-miR-146b-5p	Northern blot, qRT-PCR, Western blot	16365291
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot	19088079
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT017735	hsa-miR-335-5p	Microarray	18185580
MIRT021165	hsa-miR-186-5p	Sequencing	20371350
MIRT001779	hsa-miR-222-3p	Reporter assay	16330772
MIRT001780	hsa-miR-221-3p	Reporter assay;Microarray	20018759
MIRT001780	hsa-miR-221-3p	Reporter assay	16330772
MIRT047222	hsa-miR-181c-5p	CLASH	23622248
MIRT054626	hsa-miR-199b-5p	ChIP-seq, Flow, qRT-PCR, Western blot	24608802
MIRT437423	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	24465609
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay, qRT-PCR, microarray, Western blotting	23969726
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay, qRT-PCR, microarray, Western blotting	23969726
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT656856	hsa-miR-8063	HITS-CLIP	23824327
MIRT656855	hsa-miR-549a	HITS-CLIP	23824327
MIRT656854	hsa-miR-4504	HITS-CLIP	23824327
MIRT656853	hsa-miR-1262	HITS-CLIP	23824327
MIRT656852	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT656851	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay	27056900
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay	27056900
MIRT001779	hsa-miR-222-3p	Immunohistochemistry (IHC), qRT-PCR, Western blotting	33564933
MIRT733439	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Western blotting	32708220
MIRT735971	hsa-miR-142-5p	Microarray, qRT-PCR	31552107
MIRT001780	hsa-miR-221-3p	RNA-seq, qRT-PCR	33187494
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay, Western blotting, Flow cytometry	32943991
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT656856	hsa-miR-8063	HITS-CLIP	23824327
MIRT656855	hsa-miR-549a	HITS-CLIP	23824327
MIRT656854	hsa-miR-4504	HITS-CLIP	23824327
MIRT656853	hsa-miR-1262	HITS-CLIP	23824327
MIRT656852	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT656851	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT1095310	hsa-miR-3183	CLIP-seq
MIRT1095311	hsa-miR-4469	CLIP-seq
MIRT1095312	hsa-miR-4480	CLIP-seq
MIRT1095313	hsa-miR-4723-3p	CLIP-seq
MIRT1095314	hsa-miR-4753-3p	CLIP-seq
MIRT1095315	hsa-miR-488	CLIP-seq
MIRT1095316	hsa-miR-642a	CLIP-seq
MIRT1095312	hsa-miR-4480	CLIP-seq
MIRT2025573	hsa-miR-3978	CLIP-seq
MIRT2025574	hsa-miR-4501	CLIP-seq
MIRT2256804	hsa-miR-522	CLIP-seq
MIRT2256805	hsa-miR-548v	CLIP-seq
MIRT2430439	hsa-miR-3140-5p	CLIP-seq
MIRT2430440	hsa-miR-3152-5p	CLIP-seq
MIRT2430441	hsa-miR-3688-3p	CLIP-seq
MIRT2430442	hsa-miR-4643	CLIP-seq
MIRT2430443	hsa-miR-4659a-5p	CLIP-seq
MIRT2430444	hsa-miR-4659b-5p	CLIP-seq
MIRT2430445	hsa-miR-466	CLIP-seq
MIRT2430446	hsa-miR-4727-5p	CLIP-seq
MIRT2430447	hsa-miR-4769-3p	CLIP-seq
MIRT2430448	hsa-miR-4774-3p	CLIP-seq
MIRT2430449	hsa-miR-4789-3p	CLIP-seq
MIRT2430450	hsa-miR-498	CLIP-seq

Transcription factors

Show/Hide all(4)

Transcription factor	Regulation	Reference
MITF	Activation	19937254
RBMX	Repression	16707624
SP1	Unknown	9834219
TFAP2A	Unknown	20805990

Show/Hide all(105)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0000187	Process	Activation of MAPK activity	IDA	21640708
GO:0001541	Process	Ovarian follicle development	ISS
GO:0001650	Component	Fibrillar center	IDA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0002020	Function	Protease binding	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IBA	21873635
GO:0002318	Process	Myeloid progenitor cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002327	Process	Immature B cell differentiation	ISS
GO:0002371	Process	Dendritic cell cytokine production	ISS
GO:0002551	Process	Mast cell chemotaxis	IDA	20100931
GO:0004713	Function	Protein tyrosine kinase activity	TAS	1717985
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	21640708
GO:0005020	Function	Stem cell factor receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	1382595, 7523381, 7537096, 10377264, 10397721, 11018522, 12878163, 17662946, 24728074, 25241761
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IDA	14625290
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005911	Component	Cell-cell junction	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS
GO:0006687	Process	Glycosphingolipid metabolic process	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007165	Process	Signal transduction	TAS	9990072
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007283	Process	Spermatogenesis	ISS
GO:0007283	Process	Spermatogenesis	TAS	16129412
GO:0007286	Process	Spermatid development	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008354	Process	Germ cell migration	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0008542	Process	Visual learning	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010863	Process	Positive regulation of phospholipase C activity	TAS	16129412
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	TAS	16129412
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	21640708
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	21640708
GO:0019827	Process	Stem cell population maintenance	TAS	21057534
GO:0019955	Function	Cytokine binding	IDA	21640708
GO:0030032	Process	Lamellipodium assembly	ISS
GO:0030097	Process	Hemopoiesis	TAS	16129412
GO:0030183	Process	B cell differentiation	IBA	21873635
GO:0030217	Process	T cell differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030318	Process	Melanocyte differentiation	ISS
GO:0030318	Process	Melanocyte differentiation	TAS	21057534
GO:0030335	Process	Positive regulation of cell migration	IBA	21873635
GO:0031274	Process	Positive regulation of pseudopodium assembly	IEA
GO:0031532	Process	Actin cytoskeleton reorganization	IDA	1721869
GO:0032762	Process	Mast cell cytokine production	IDA	20100931
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035162	Process	Embryonic hemopoiesis	ISS
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0035701	Process	Hematopoietic stem cell migration	IEA
GO:0035855	Process	Megakaryocyte development	ISS
GO:0038093	Process	Fc receptor signaling pathway	IDA	20100931
GO:0038109	Process	Kit signaling pathway	IBA	21873635
GO:0038109	Process	Kit signaling pathway	IDA	17662946
GO:0038162	Process	Erythropoietin-mediated signaling pathway	ISS
GO:0042127	Process	Regulation of cell population proliferation	TAS	16129412, 21057534
GO:0042169	Function	SH2 domain binding	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	21135090
GO:0042803	Function	Protein homodimerization activity	IPI	21640708
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043303	Process	Mast cell degranulation	IMP	20100931
GO:0043406	Process	Positive regulation of MAP kinase activity	IBA	21873635
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	21640708
GO:0043473	Process	Pigmentation	ISS
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	TAS	16129412
GO:0043586	Process	Tongue development	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA	21873635
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IMP	21135090
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	21640708
GO:0046872	Function	Metal ion binding	IEA
GO:0048103	Process	Somatic stem cell division	IEA
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IEA
GO:0048565	Process	Digestive tract development	ISS
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	21135090
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0060326	Process	Cell chemotaxis	IDA	1721869
GO:0060374	Process	Mast cell differentiation	ISS
GO:0060374	Process	Mast cell differentiation	TAS	16129412
GO:0070662	Process	Mast cell proliferation	TAS	21057534
GO:0097067	Process	Cellular response to thyroid hormone stimulus	IEA
GO:0097324	Process	Melanocyte migration	ISS
GO:0097326	Process	Melanocyte adhesion	ISS
GO:0120072	Process	Positive regulation of pyloric antrum smooth muscle contraction	IEA
GO:1904251	Process	Regulation of bile acid metabolic process	IEA
GO:1904343	Process	Positive regulation of colon smooth muscle contraction	IEA
GO:1904349	Process	Positive regulation of small intestine smooth muscle contraction	IEA
GO:1905065	Process	Positive regulation of vascular associated smooth muscle cell differentiation	IDA	19088079

MIM	HGNC	e!Ensembl
164920	6342	ENSG00000157404

Protein

UniProt ID

P10721

Protein name

Mast/stem cell growth factor receptor Kit (SCFR) (EC 2.7.10.1) (Piebald trait protein) (PBT) (Proto-oncogene c-Kit) (Tyrosine-protein kinase Kit) (p145 c-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (CD antigen CD117)

Protein function

Tyrosine-protein kinase that acts as a 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,

PDB

1PKG , 1T45 , 1T46 , 2E9W , 2EC8 , 2IUH , 2VIF , 3G0E , 3G0F , 4HVS , 4K94 , 4K9E , 4PGZ , 4U0I , 6GQJ , 6GQK , 6GQL , 6GQM , 6HH1 , 6ITT , 6ITV , 6KLA , 6MOB , 6XV9 , 6XVA , 6XVB , 7KHG , 7KHJ , 7KHK , 7ZW8 , 7ZY6 , 8DFM , 8DFP , 8DFQ , 8PQ9 , 8PQA , 8PQB , 8PQC , 8PQD , 8PQE , 8PQF , 8PQG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00047	ig	216 → 305	Immunoglobulin domain	Domain
PF07714	PK_Tyr_Ser-Thr	589 → 924	Protein tyrosine and serine/threonine kinase	Domain

Sequence

MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTD
PGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLV
DRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYH
RLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSS
SVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSAN
VTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWE
DYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDR
LVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDS
SAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIV
MILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAF
GKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGAC
TIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNE
YMDMKPGVSYVVPTKADKRRSVRIGSYIERDVTPAIMEDDELALDLEDLLSFSYQVAKGM
AFLASKNCIHRDLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLPVKWMAPES
IFNCVYTFESDVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMY
DIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPVVDHSVRINSV
GSTASSSQPLLVHDDV

Sequence length

976

Interactions

View interactions

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