Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.
| RefSeq Version | NM_005373.2, 172072641 |
| Length | 3645 bp |
| Structure | linear |
| Update Date | 23-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA. |
| Product | thrombopoietin receptor precursor |
| Comment | Summary: In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data revealed that c-mpl encoded a protein that was homologous with members of the hematopoietic receptor superfamily. Presence of anti-sense oligodeoxynucleotides of c-mpl inhibited megakaryocyte colony formation. The ligand for c-mpl, thrombopoietin, was cloned in 1994. Thrombopoietin was shown to be the major regulator of megakaryocytopoiesis and platelet formation. The protein encoded by the c-mpl gene, CD110, is a 635 amino acid transmembrane domain, with two extracellular cytokine receptor domains and two intracellular cytokine receptor box motifs . TPO-R deficient mice were severely thrombocytopenic, emphasizing the important role of CD110 and thrombopoietin in megakaryocyte and platelet formation. Upon binding of thrombopoietin CD110 is dimerized and the JAK family of non-receptor tyrosine kinases, as well as the STAT family, the MAPK family, the adaptor protein Shc and the receptors themselves become tyrosine phosphorylated. [provided by RefSeq]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because no single transcript was available for the full length of the gene. The extent of this transcript is supported by transcript alignments. |
| RefSeq | NP_005364.1 |
| CDS | 46..1953 | Exon (1) | 1..124 | Exon (2) | 1..124 | Exon (3) | 125..257 | Exon (4) | 258..436 | Exon (5) | 437..735 | Exon (6) | 736..898 | Exon (7) | 899..1025 | Exon (8) | 1026..1210 | Exon (9) | 1211..1353 | Exon (10) | 1354..1513 | Exon (11) | 1514..1610 | Exon (12) | 1611..1698 | Exon (13) | 1699..3645 |
| Translation | MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPS
GTYQLLYAYPREKPRACPLSSQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTR
TQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPEISDFLRYELRYGPRDPKNST
GPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVT
CQWQQQDHASSQGFFYHSRARCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDS
IIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWREISSGHLELEWQHPSSWAAQE
TCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLG
QYLRDTAALSPPKATVSDTCEEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLG
TMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP
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| Position | Chain | Variation | Link |
| 41 | + | a, g | dbSNP:118013148 |
| 162 | + | g, t | dbSNP:17292650 |
| 218 | + | c, t | dbSNP:6087 |
| 254 | + | c, t | dbSNP:61754776 |
| 255 | + | a, g | dbSNP:6086 |
| 350 | + | c, g | dbSNP:28928907 |
| 385 | + | a, g | dbSNP:12731981 |
| 547 | + | a, g | dbSNP:6088 |
| 588 | + | c, t | dbSNP:17572791 |
| 667 | + | a, c | dbSNP:111460954 |
| 735 | + | a, g | dbSNP:16830693 |
| 838 | + | c, t | dbSNP:117656396 |
| 868 | + | a, c | dbSNP:28928908 |
| 929 | + | a, g | dbSNP:113696793 |
| 1033..1034 | + | , c | dbSNP:66678971 |
| 1081 | + | a, c | dbSNP:77222360 |
| 1085 | + | a, c | dbSNP:61769040 |
| 1095 | + | c, t | dbSNP:74560881 |
| complement(1311) | - | g, a | dbSNP:34928544 |
| 1655 | + | a, g | dbSNP:3820551 |
| 1938 | + | , t | dbSNP:67746978 |
| 2047 | + | a, c | dbSNP:77858532 |
| 2083 | + | c, t | dbSNP:79622176 |
| 2107 | + | , t | dbSNP:67416726 |
| complement(2615) | - | g, a | dbSNP:1763698 |
| 2625 | + | c, g | dbSNP:75425122 |
| 2627 | + | a, t | dbSNP:77858547 |
| 2630 | + | a, t | dbSNP:79736278 |
| 2638 | + | , ttttt | dbSNP:10572898 |
| 2647 | + | , tttttttt | dbSNP:10572899 |
| complement(2658..2659) | - | , aaaa | dbSNP:71307654 |
| 3032..3033 | + | , c | dbSNP:35225340 |
| 3133 | + | a, g | dbSNP:117166528 |
| 3173 | + | c, t | dbSNP:6689207 |
| 3459 | + | a, g | dbSNP:115780311 |
| Gene Symbol | MPL |
| Gene Synonym | C-MPL; CD110; MPLV; TPOR |
| Chromosome | 1 |
| Locus Map | 1p34 |
| All Transcripts | NM_005373 |
| Title | A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population . |
| Author | Jalas,C., Anderson,S.L., Laufer,T., Martimucci,K., Bulanov,A., Xie,X., Ekstein,J. and Rubin,B.Y. |
| Journal | Blood Cells Mol. Dis. (2011) In press |
| Title | CAMT in a female with developmental delay, facial malformations and central nervous system anomalies . |
| Author | Martinon-Torres,N., Vazquez-Donsion,M., Loidi,L. and Couselo,J.M. |
| Journal | Pediatr Blood Cancer 56 (3), 452-453 (2011) |
| Title | The association of JAK2V617F mutation and leukocytosis with thrombotic events in essential thrombocythemia . |
| Author | Hsiao,H.H., Yang,M.Y., Liu,Y.C., Lee,C.P., Yang,W.C., Liu,T.C., Chang,C.S. and Lin,S.F. |
| Journal | Exp. Hematol. 35 (11), 1704-1707 (2007) |
| Title | Analysis of JAK3, JAK2, and C-MPL mutations in transient myeloproliferative disorder and myeloid leukemia of Down syndrome blasts in children with Down syndrome . |
| Author | Norton,A., Fisher,C., Liu,H., Wen,Q., Mundschau,G., Fuster,J.L., Hasle,H., Zeller,B., Webb,D.K., O'Marcaigh,A., Sorrell,A., Hilden,J., Gamis,A., Crispino,J.D. and Vyas,P. |
| Journal | Blood 110 (3), 1077-1079 (2007) |
| Title | Anaemia characterises patients with myelofibrosis harbouring Mpl mutation . |
| Author | Guglielmelli,P., Pancrazzi,A., Bergamaschi,G., Rosti,V., Villani,L., Antonioli,E., Bosi,A., Barosi,G. and Vannucchi,A.M. |
| Journal | Br. J. Haematol. 137 (3), 244-247 (2007) |
| Title | Concurrent MPL515 and JAK2V617F mutations in myelofibrosis: chronology of clonal emergence and changes in mutant allele burden over time . |
| Author | Lasho,T.L., Pardanani,A., McClure,R.F., Mesa,R.A., Levine,R.L., Gilliland,D.G. and Tefferi,A. |
| Journal | Br. J. Haematol. 135 (5), 683-687 (2006) |
| Title | MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients . |
| Author | Pardanani,A.D., Levine,R.L., Lasho,T., Pikman,Y., Mesa,R.A., Wadleigh,M., Steensma,D.P., Elliott,M.A., Wolanskyj,A.P., Hogan,W.J., McClure,R.F., Litzow,M.R., Gilliland,D.G. and Tefferi,A. |
| Journal | Blood 108 (10), 3472-3476 (2006) |
| Title | MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia . |
| Author | Pikman,Y., Lee,B.H., Mercher,T., McDowell,E., Ebert,B.L., Gozo,M., Cuker,A., Wernig,G., Moore,S., Galinsky,I., DeAngelo,D.J., Clark,J.J., Lee,S.J., Golub,T.R., Wadleigh,M., Gilliland,D.G. and Levine,R.L. |
| Journal | PLoS Med. 3 (7), E270 (2006) |
| Title | Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily . |
| Author | Vigon,I., Mornon,J.P., Cocault,L., Mitjavila,M.T., Tambourin,P., Gisselbrecht,S. and Souyri,M. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 89 (12), 5640-5644 (1992) |
| Title | A putative truncated cytokine receptor gene transduced by the myeloproliferative leukemia virus immortalizes hematopoietic progenitors . |
| Author | Souyri,M., Vigon,I., Penciolelli,J.F., Heard,J.M., Tambourin,P. and Wendling,F. |
| Journal | Cell 63 (6), 1137-1147 (1990) |
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