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FLASH GENE

Symbol

KIT

contributors: mct/npt/pgu - updated : 07-01-2017

HGNC name	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
HGNC id	6342

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FGIST predisposition to familial gastrointestinal stromal tumors FMST mastocytosis PBT1 piebald trait 1
Location	4q12      Physical location : 55.524.094 - 55.606.879
Synonym name	mast/stem cell factor
	proto-oncogen1e tyrosine-protein kinase Kit
	soluble KIT variant 1
	CD117 antigen
Synonym symbol(s)	SCFR, CD117, C-Kit
EC.number	2.7.10.1

DNA

TYPE	functioning gene
STRUCTURE	82.79 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 21 - 5190 isoform 1 109.7 976 - 2008 18697750 variant 2 21 - 5178 isoform 2 109.3 972 - 2008 18697750

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly Homo sapiens   pancreas         Homo sapiens   thyroid         Homo sapiens Reproductive male system male genital tract seminiferous tubule   highly Homo sapiens Skin/Tegument skin       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining endometrium     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic mature hematopoietic Homo sapiens Blood/Hematopoietic megakaryocyte Homo sapiens Blood/Hematopoietic progenitor cell Homo sapiens not specific mast cell Homo sapiens Reproductive epithelial cell Homo sapiens Skin/Tegument melanocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

five immunoglobulin-like C2-type domain

HOMOLOGY

interspecies	homolog to feline Hardy-Zuckerman 4 sarcoma viral (v-kit or c-kit) oncogene
	homolog to murine dominant spotting

Homologene

FAMILY	protein kinase superfamily
	Tyr protein kinase family
	CSF-1/PDGF receptor subfamily

CATEGORY

enzyme , protooncogene , receptor

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	type 1 membrane protein

basic FUNCTION	receptor tyrosine kinase,class III
	stem cell factor receptor playing an important physiological role in hematopoiesis, melanogenesis, and gametogenesis
	involved in activation of PI3K, dependent both on the direct PI3K-binding site in KIT and on the phosphorylation of GAB2
	tyrosine kinase receptor involved in the proliferation, differentiation, and secretory functions of various cells
	may be playing a role in regulating adrenocorticotropic hormone, and may be involved in the pituitary-adrenal axis regulation (ACTH) secretion
	KIT signaling regulates MITF expression through miRNAs in normal and malignant mast cell proliferation
	defines distinct progenitor populations in the mammary epithelium and is critical for mammary progenitor survival and proliferation
	KIT/KITLG system may play a role in corneal wound healing through epithelial cell attachment
	common marker for multipotential stem cells
	KIT activation is essential for the maturation, survival and proliferation of mast cells
	stem cell factor-dependent KIT activation is an essential process for mast cell homeostasis
	receptor tyrosine kinase, also known as the stem cell factor receptor, playing a key role in several developmental processes
	potential role for KIT signaling in perinatal oocyte cyst breakdown that may be mediated by MAP Kinase downstream of KIT
	critical roles for HAP1 and KIT in postnatal neurogenesis and adult depressive behavior

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	ZBTB16-mediated control on KIT expression in CD34(+) cells and early erythropoiesis
	RAB27B negatively regulates the cell surface expression of KIT via secretion of KITLG and ligation of KITLG leads to the endolysosomal degradation system of KIT
	SH3BP2 regulates human mast cells (huMCs) survival and participates in KIT-mediated signal transduction by directly controlling KIT receptor expression
	inhibition of KCNJ2 channels increases cell mobility without affecting cell cycling progression in human cardiac KIT progenitor cells
	FUBP1 and RUNX1 cooperate for the regulation of the expression of the oncogene KIT
	STRA8, indirectly, is able to exert a negative control on the SOHLH1-dependent stimulation of KIT expression in late differentiating spermatogonia and preleptotene spermatocytes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PBT1 , FMST , FGIST

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in mastocytosis, with an associated hematologic disorder, and in sporadic and familial stomach, intestines stromal tumors tumoral     --over   in gastrointestinal tumors tumoral somatic mutation       in acute myeloid leukemia tumoral somatic mutation       in synovial sarcoma tumoral     --over   of KIT and KITLG expression in primary Merkel cell carcinoma and in metastases suggests an early event in Merkel cell transformation tumoral somatic mutation       in mucosal melanomas irrespective of the location of the primary tumour tumoral   amplification     coamplification of PDGFRA or KDR with KIT may be clinically useful novel molecular markers in medulloblastomas and primitive neuroectodermal tumors tumoral     --over   of KIT, TP53, and MKI67 reflects tumor grade and predicts survival in neuroendocrine carcinomas, but fail as prognostic markers in the subset of small cell lung cancer patients constitutional germinal mutation     gain of function activating mutations found in the majority of patients with systemic mastocytosis tumoral     --over   in the human meningiomas

Susceptibility

to infertility in males

Variant & Polymorphism other	significant association of the rs3819392 polymorphism, which is located within the KIT gene, with idiopathic male infertility

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer skin   therapeutic attempts with tyrosine kinase inhibitors blocking KIT in mucosal melanomas cancer reproductive breast KIT signalling network has potential as a target for therapy and/or prevention in BRCA1-associated breast cancer

ANIMAL & CELL MODELS