Sequence in raw or FASTA format:
Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.
| RefSeq Version | NM_000222.2, 148005048 |
| Length | 5190 bp |
| Structure | linear |
| Update Date | 01-MAY-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA. |
| Product | mast/stem cell growth factor receptor isoform 1 precursor |
| Comment | 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]. Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). |
| RefSeq | NP_000213.1 |
| CDS | 88..3018 | Exon (1) | 1..154 | Exon (2) | 1..154 | Exon (3) | 155..424 | Exon (4) | 425..706 | Exon (5) | 707..843 | Exon (6) | 844..1012 | Exon (7) | 1013..1202 | Exon (8) | 1203..1318 | Exon (9) | 1319..1433 | Exon (10) | 1434..1627 | Exon (11) | 1628..1734 | Exon (12) | 1735..1861 | Exon (13) | 1862..1966 | Exon (14) | 1967..2077 | Exon (15) | 2078..2228 | Exon (16) | 2229..2320 | Exon (17) | 2321..2448 | Exon (18) | 2449..2571 | Exon (19) | 2572..2683 | Exon (20) | 2684..2783 | Exon (21) | 2784..2889 | Exon (22) | 2890..5176 |
| Translation | MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTD
PGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLV
DRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYH
RLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSS
SVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSAN
VTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWE
DYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDR
LVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDS
SAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIV
MILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAF
GKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGAC
TIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNE
YMDMKPGVSYVVPTKADKRRSVRIGSYIERDVTPAIMEDDELALDLEDLLSFSYQVAKGM
AFLASKNCIHRDLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLPVKWMAPES
IFNCVYTFESDVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMY
DIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPVVDHSVRINSV
GSTASSSQPLLVHDDV
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| Gene Symbol | KIT |
| Gene Synonym | C-Kit; CD117; PBT; SCFR |
| Chromosome | 4 |
| Locus Map | 4q11-q12 |
| All Transcripts | NM_000222 , NM_001093772 |
| Title | Stem cell factor/c-kit signaling enhances invasion of pancreatic cancer cells via HIF-1alpha under normoxic condition . |
| Author | Zhang,M., Ma,Q., Hu,H., Zhang,D., Li,J., Ma,G., Bhat,K. and Wu,E. |
| Journal | Cancer Lett. 303 (2), 108-117 (2011) |
| Title | Proposed histopathologic grading system derived from a study of KIT and CK19 expression in pancreatic endocrine neoplasm . |
| Author | Zhang,L., Lohse,C.M., Dao,L.N. and Smyrk,T.C. |
| Journal | Hum. Pathol. 42 (3), 324-331 (2011) |
| Title | C-KIT mutation cooperates with full-length AML1-ETO to induce acute myeloid leukemia in mice . |
| Author | Wang,Y.Y., Zhao,L.J., Wu,C.F., Liu,P., Shi,L., Liang,Y., Xiong,S.M., Mi,J.Q., Chen,Z., Ren,R. and Chen,S.J. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 108 (6), 2450-2455 (2011) |
| Title | Fluorescence in situ hybridization analysis and immunophenotyping of c-Kit/PDGFRA and Bcl-2 expression in gastrointestinal stromal tumors . |
| Author | Orsenigo,M., Brich,S., Riva,C., Conca,E., Bertulli,R., Dileo,P., Gronchi,A., Casali,P.G., Pierotti,M.A., Tamborini,E. and Pilotti,S. |
| Journal | Anal. Quant. Cytol. Histol. 32 (4), 225-233 (2010) |
| Title | qPCR in gastrointestinal stromal tumors: Evaluation of reference genes and expression analysis of KIT and the alternative receptor tyrosine kinases FLT3, CSF1-R, PDGFRB, MET and AXL . |
| Author | Fassunke,J., Blum,M.C., Schildhaus,H.U., Zapatka,M., Brors,B., Kunstlinger,H., Buttner,R., Wardelmann,E. and Merkelbach-Bruse,S. |
| Journal | BMC Mol. Biol. 11, 100 (2010) |
| Title | Deletion of the KIT and PDGFRA genes in a patient with piebaldism . |
| Author | Spritz,R.A., Droetto,S. and Fukushima,Y. |
| Journal | Am. J. Med. Genet. 44 (4), 492-495 (1992) |
| Title | Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene . |
| Author | Giebel,L.B., Strunk,K.M., Holmes,S.A. and Spritz,R.A. |
| Journal | Oncogene 7 (11), 2207-2217 (1992) |
| Title | Genomic organization of the human c-kit gene: evolution of the receptor tyrosine kinase subclass III . |
| Author | Andre,C., Martin,E., Cornu,F., Hu,W.X., Wang,X.P. and Galibert,F. |
| Journal | Oncogene 7 (4), 685-691 (1992) |
| Title | p21ras activation via hemopoietin receptors and c-kit requires tyrosine kinase activity but not tyrosine phosphorylation of p21ras GTPase-activating protein . |
| Author | Duronio,V., Welham,M.J., Abraham,S., Dryden,P. and Schrader,J.W. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (5), 1587-1591 (1992) |
| Title | Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism . |
| Author | Spritz,R.A., Giebel,L.B. and Holmes,S.A. |
| Journal | Am. J. Hum. Genet. 50 (2), 261-269 (1992) |
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