• Gene id: 4352

Gene Summary

• Gene Symbol: MPL   Gene   UCSC   Ensembl
• Aliases: C-MPL, CD110, MPLV, THCYT2, THPOR, TPOR
• Gene name: MPL proto-oncogene, thrombopoietin receptor
• Alternate names: thrombopoietin receptor, TPO-R, myeloproliferative leukemia protein, myeloproliferative leukemia virus oncogene, proto-oncogene c-Mpl,
• Gene location: 1p34.2 (43336874: 43354465)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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 re
• OMIM: 159530

Protein Summary

• Protein general information: P40238  
  • Name: Thrombopoietin receptor (TPO R) (Myeloproliferative leukemia protein) (Proto oncogene c Mpl) (CD antigen CD110)
  • Length: 635  
  • Mass: 71245
  • Tissue specificity: Expressed at a low level in a large number of cells of hematopoietic origin. Isoform 1 and isoform 2 are always found to be coexpressed.
• Sequence:

  MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPR
  ACPLSSQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGEL
  QISWEEPAPEISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQT
  SPSREASALTAEGGSCLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVT
  CQWQQQDHASSQGFFYHSRARCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTV
  HSYLGSPFWIHQAVRLPTPNLHWREISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLE
  LRPRSRYRLQLRARLNGPTYQGPWSSWSDPTRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLR
  HALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTCEEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLG
  TMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP

• Structural information:
  • Protein Domains: (172..28-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (392..48-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316"-)
  • Interpro: IPR003961  IPR036116  IPR015152  IPR013783  IPR003528  
  • Prosite: PS50853 PS01352
  • CDD: cd00063
  • DIP: 5730
  • STRING: ENSP00000361548
• Other Databases: GeneCards:  MPL  Malacards:  MPL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0038164	thrombopoietin receptor activity	IMP	molecular function
GO:0004896	cytokine receptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1990960	basophil homeostasis	IEA	biological process
GO:1990959	eosinophil homeostasis	IEA	biological process
GO:0070527	platelet aggregation	IEA	biological process
GO:0050671	positive regulation of lymphocyte proliferation	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:1905221	positive regulation of platelet formation	IEA	biological process
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0035702	monocyte homeostasis	IEA	biological process
GO:0001780	neutrophil homeostasis	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0031965	nuclear membrane	IDA	cellular component
GO:0038163	thrombopoietin-mediated signaling pathway	IEA	biological process
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04060	Cytokine-cytokine receptor interaction
hsa04630	JAK-STAT signaling pathway

Diseases

Associated diseases	References
Myelofibrosis	KEGG:H01605
Essential thrombocytosis	KEGG:H01612
Congenital amegakaryocytic thrombocytopenia	KEGG:H00227
Myelofibrosis	KEGG:H01605
Essential thrombocytosis	KEGG:H01612
Congenital amegakaryocytic thrombocytopenia	KEGG:H00227
Thrombocytopenia	PMID:12209520
Thrombocytopenia	PMID:10077649
Essential thrombocythemia	PMID:11122159
Essential thrombocythemia	PMID:14764528
Thrombocytosis	PMID:19036112
myeloid leukemia	PMID:10621836
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)