GTR Home > Genes

MPL MPL proto-oncogene, thrombopoietin receptor

Also known as: MPLV; TPOR; C-MPL; CD110; THCYT2

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Congenital amegakaryocytic thrombocytopenia
MedGen: C1327915OMIM: 604498GeneReviews: Not available
See labs
Myelofibrosis
MedGen: C0001815OMIM: 254450GeneReviews: Not available
See labs
Thrombocytosis, benign familial microcytic
MedGen: C1865987OMIM: 601977GeneReviews: Not available
See labs

Genomic context

Location:
1p34.2
Sequence:
Chromosome: 1; NC_000001.11 (43336875..43354464)
Total number of exons:
11

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Support Center