Sequence in raw or FASTA format:
MPL MPL proto-oncogene, thrombopoietin receptor [Homo sapiens (human)]
|Entrez Gene ID||4352|
|Full Name||MPL proto-oncogene, thrombopoietin receptor|
|Synonyms||C-MPL, CD110, MPLV, THCYT2, TPOR|
|General protein information||
|Organism||Homo sapiens (human)|
|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, Jul 2008].|
Thrombocytopenia, congenital amegakaryocytic, 604498 (3);
|hsa04060||Cytokine-cytokine receptor interaction|
|hsa04630||Jak-STAT signaling pathway|
|REACT_798||Platelet activation, signaling and aggregation|
|REACT_278||Platelet Aggregation (Plug Formation)|
|Homo sapiens (human)||MPL||NP_005364.1|
|Macaca mulatta (Rhesus monkey)||MPL||XP_002801551.1|
|Bos taurus (cattle)||MPL||NP_001179592.1|
|Mus musculus (house mouse)||Mpl||NP_001116421.1|
|Rattus norvegicus (Norway rat)||Mpl||XP_345573.5|
|Gallus gallus (chicken)||MPL||NP_001001782.1|
|Danio rerio (zebrafish)||mpl||NP_001003858.1|
|GO:0007166||cell surface receptor signaling pathway||TAS|
|GO:0019221||cytokine-mediated signaling pathway||IEA|
|GO:0032642||regulation of chemokine production||IEA|
|GO:0048872||homeostasis of number of cells||IEA|
|GO:0005887||integral component of plasma membrane||TAS|
|GO:0004888||transmembrane signaling receptor activity||TAS|
|GO:0004896||cytokine receptor activity||IEA|
What is the normal function of the MPL gene?
The MPL gene provides instructions for making the thrombopoietin receptor protein, which promotes the growth and division (proliferation) of cells. This receptor is especially important for the proliferation of certain blood cells called megakaryocytes, which produce platelets, the cells involved in blood clotting. Research suggests that the thrombopoietin receptor may also play a role in the maintenance of hematopoietic stem cells, which are stem cells located within the bone marrow that have the potential to develop into red blood cells, white blood cells, and platelets.
The thrombopoietin receptor is turned on (activated) when a protein called thrombopoietin attaches (binds) to it. The activated thrombopoietin receptor stimulates a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus and is important for controlling the production of blood cells.
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