| Gene Symbol |
KIT
|
| Entrez Gene |
3815
|
| Alt Symbol |
C-Kit, CD117, PBT, SCFR
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
|
| Other Description |
mast/stem cell growth factor receptor Kit|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-like protein
|
| Swissprots |
Q99662 P10721 D5LXN2 B5A956 Q6IQ28 F5H8F8 D5M931 Q9UM99
|
| Accessions |
AAB29301 AAB29529 AAC50968 AAC50969 ACI16424 ACI24886 CAA46771 CAA46772 CAA49159 CAJ15130 CAM35390 CAM91185 CAT16960 EAX05460 EAX05461 P10721 AJ438313 CAD27356 AK304031 BAG64945 BC071593 AAH71593 CN414753 DC376760 EU826594 ACF47630 GU983671 ADF36702 HM015525 ADF50068 HM015526 ADF50069 HM030712 ADF50070 HM030713 ADF50071 HM437240 ADN43071 X06182 CAA29548 XM_005265740 XP_005265797 XM_005265741 XP_005265798 XM_005265742 XP_005265799 NM_000222 NP_000213 NM_001093772 NP_001087241
|
| Function |
Tyrosine-protein kinase that acts as 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, migration and function, and in melanogenesis. In response to KITLG/SCF binding, KIT can activate several signaling pathways. Phosphorylates PIK3R1, PLCG1, SH2B2/APS and CBL. Activates the AKT1 signaling pathway by phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase. Activated KIT also transmits signals via GRB2 and activation of RAS, RAF1 and the MAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation of STAT family members STAT1, STAT3, STAT5A and STAT5B. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate. KIT signaling is modulated by protein phosphatases, and by rapid internalization and degradation of the receptor. Activated KIT p
|
| Subcellular Location |
Isoform 3: Cytoplasm. Note=Detected in the cytoplasm of spermatozoa, especially in the equatorial and subacrosomal region of the sperm head.
|
| Tissue Specificity |
Isoform 1 and isoform 2 are detected in spermatogonia and Leydig cells. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa (at protein level). Widely expressed. Detected in the hematopoietic system, the gastrointestinal system, in melanocytes and in germ cells. {ECO:0000269|PubMed:20601678, ECO:0000269|PubMed:2448137}.
|
| Top Pathways |
Rap1 signaling pathway, Cytokine-cytokine receptor interaction, Central carbon metabolism in cancer, PI3K-Akt signaling pathway, Endocytosis
|
