Homo sapiens Protein: MPL
Summary
InnateDB Protein IDBP-97405.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MPL
Protein Name myeloproliferative leukemia virus oncogene
Synonyms C-MPL; CD110; MPLV; THCYT2; TPOR;
Species Homo sapiens
Ensembl Protein ENSP00000361548
InnateDB Gene IDBG-97403 (MPL)
Protein Structure
UniProt Annotation
Function Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune responses.
Subcellular Localization Membrane; Single-pass type I membrane protein.
Disease Associations Congenital amegakaryocytic thrombocytopenia (CAMT) [MIM:604498]: Disease characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Note=The disease is caused by mutations affecting the gene represented in this entry.Thrombocythemia 2 (THCYT2) [MIM:601977]: A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. {ECO:0000269PubMed:14764528, ECO:0000269PubMed:23441089}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myelofibrosis with myeloid metaplasia (MMM) [MIM:254450]: A chronic myeloproliferative disorder characterized by replacement of the bone marrow by fibrous tissue, extramedullary hematopoiesis, anemia, leukoerythroblastosis and hepatosplenomegaly. {ECO:0000269PubMed:16834459, ECO:0000269PubMed:16868251}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 8 [view]
Protein-Protein 8 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0004896 cytokine receptor activity
GO:0005515 protein binding
Biological Process
GO:0007166 cell surface receptor signaling pathway
GO:0007596 blood coagulation
GO:0008283 cell proliferation
GO:0019221 cytokine-mediated signaling pathway
GO:0030168 platelet activation
GO:0032642 regulation of chemokine production
GO:0048872 homeostasis of number of cells
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
Protein Structure and Domains
PDB ID
InterPro IPR003961 Fibronectin, type III
IPR015152 Growth hormone/erythropoietin receptor, ligand binding
PFAM PF00041
PF01108
PF09067
PRINTS
PIRSF
SMART SM00060
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P40238
PhosphoSite PhosphoSite-P40238
TrEMBL
UniProt Splice Variant
Entrez Gene 4352
UniGene Hs.82906
RefSeq NP_005364
HUGO HGNC:7217
OMIM 159530
CCDS CCDS483
HPRD 01161
IMGT
EMBL AL139289 CH471059 M90102 M90103 U68159 U68160 U68161 U68162
GenPept AAA69971 AAA69972 AAB08424 AAB08425 CAI23380 EAX07103