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

Gene Symbol	KIT
Entrez Gene ID	3815
Full Name	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Synonyms	C-Kit, CD117, PBT, SCFR
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:4 Map Location:4q11-q12
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].
Disorder	MIM: 164920 Piebaldism (3); Mast cell leukemia (3); Mastocytosis with associated

mRNA	NM_000222, 148005048
Protein	NP_000213, 4557695
Product	mast/stem cell growth factor receptor isoform 1 precursor
RefSeq Status	REVIEWED
mRNA	NM_001093772, 148005038
Protein	NP_001087241, 148005039
Product	mast/stem cell growth factor receptor isoform 2 precursor
RefSeq Status	REVIEWED

KEGG

hsa04640	Hematopoietic cell lineage
hsa05200	Pathways in cancer
hsa04916	Melanogenesis
hsa04060	Cytokine-cytokine receptor interaction
hsa05221	Acute myeloid leukemia
hsa04144	Endocytosis

WikiPathways

WP304

Kit Receptor Signaling Pathway

Pathway Interaction Database

kitpathway	Signaling events mediated by Stem cell factor receptor (c-Kit)
cmyb_pathway	C-MYB transcription factor network

Homo sapiens (human)	KIT	NP_000213.1
Pan troglodytes (chimpanzee)	KIT	XP_517285.2
Canis lupus familiaris (dog)	KIT	NP_001003181.1
Bos taurus (cattle)	KIT	XP_612028.4
Mus musculus (house mouse)	Kit	NP_066922.1
Rattus norvegicus (Norway rat)	Kit	NP_071600.1
Gallus gallus (chicken)	KIT	NP_989692.1

Process

ID	Name	Evidence
GO:0002318	myeloid progenitor cell differentiation	IEA
GO:0002320	lymphoid progenitor cell differentiation	IEA
GO:0002573	myeloid leukocyte differentiation	IEA
GO:0006687	glycosphingolipid metabolic process	IEA
GO:0007165	signal transduction	TAS
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA
GO:0007243	intracellular protein kinase cascade	IEA
GO:0007283	spermatogenesis	IEA
GO:0007286	spermatid development	IEA
GO:0008284	positive regulation of cell proliferation	IEA
GO:0008542	visual learning	IEA
GO:0008584	male gonad development	IEP
GO:0009314	response to radiation	IEA
GO:0010628	positive regulation of gene expression	IEA
GO:0018108	peptidyl-tyrosine phosphorylation	IEA
GO:0019221	cytokine-mediated signaling pathway	IEA
GO:0030097	hemopoiesis	IEA
GO:0030335	positive regulation of cell migration	IEA
GO:0031274	positive regulation of pseudopodium assembly	IEA
GO:0035019	somatic stem cell maintenance	IEA
GO:0035234	germ cell programmed cell death	IEA
GO:0043069	negative regulation of programmed cell death	IEA
GO:0043406	positive regulation of MAP kinase activity	IEA
GO:0045747	positive regulation of Notch signaling pathway	IEA
GO:0046777	protein autophosphorylation	IEA
GO:0048070	regulation of developmental pigmentation	IEA
GO:0048103	somatic stem cell division	IEA
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	IEA
GO:0050673	epithelial cell proliferation	IEA

Component

ID	Name	Evidence
GO:0001669	acrosomal vesicle	IEA
GO:0005615	extracellular space	IDA
GO:0005737	cytoplasm	IEA
GO:0009897	external side of plasma membrane	IEA
GO:0009898	internal side of plasma membrane	IEA
GO:0016020	membrane	IEA
GO:0016021	integral to membrane	IEA

Function

ID	Name	Evidence
GO:0000166	nucleotide binding	IEA
GO:0004713	protein tyrosine kinase activity	TAS
GO:0004716	receptor signaling protein tyrosine kinase activity	TAS
GO:0004872	receptor activity	IEA
GO:0005020	stem cell factor receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA

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RefSeq Accession	Definition	Sequence	Price	Select
NM_000222	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Full Length	$2335.50
NM_000222		ORF Sequence	$849.99
NM_001093772	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 2, mRNA.	Full Length	$2330.10
NM_001093772		ORF Sequence	$846.51