Thrombopoietin receptor

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Myeloproliferative leukemia virus oncogene
Identifiers
Symbols MPL ; C-MPL; CD110; MPLV; THCYT2; TPOR
External IDs OMIM159530 MGI97076 HomoloGene7845 ChEMBL: 1864 GeneCards: MPL Gene
RNA expression pattern
PBB GE MPL 211903 s at tn.png
PBB GE MPL 207550 at tn.png
PBB GE MPL 216825 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 4352 17480
Ensembl ENSG00000117400 ENSMUSG00000006389
UniProt P40238 Q08351
RefSeq (mRNA) NM_005373 NM_001122949
RefSeq (protein) NP_005364 NP_001116421
Location (UCSC) Chr 1:
43.8 – 43.82 Mb
Chr 4:
118.44 – 118.46 Mb
PubMed search [1] [2]

Myeloproliferative leukemia virus oncogene (MPL) also known as CD110 (Cluster of Differentiation 110), is a human gene.[1]

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.[1]

Interactions[edit]

Myeloproliferative leukemia virus oncogene has been shown to interact with ATXN2L.[2]

Clinical relevance[edit]

Mutations in this gene have been shown to cause familial aplastic anemia.[3]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: MPL myeloproliferative leukemia virus oncogene". 
  2. ^ Meunier, Caroline; Bordereaux Didier, Porteu Francoise, Gisselbrecht Sylvie, Chrétien Stany, Courtois Geneviève (Mar 2002). "Cloning and characterization of a family of proteins associated with Mpl". J. Biol. Chem. (United States) 277 (11): 9139–47. doi:10.1074/jbc.M105970200. ISSN 0021-9258. PMID 11784712. 
  3. ^ Walne A, Dokal A, Plagnol V, Beswick R, Kirwan M, de la Fuente J, Vulliamy T, Dokal I (December 2011). "Exome sequencing identifies MPL as a causative gene in familial aplastic anemia". Haematologica 97 (4): 524–8. doi:10.3324/haematol.2011.052787. PMC 3347658. PMID 22180433. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.