Homo sapiens Protein: MPL | |||||||||||||||||||||||
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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 |
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR003961
Fibronectin, type III IPR015152 Growth hormone/erythropoietin receptor, ligand binding |
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PFAM |
PF00041
PF01108 PF09067 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART |
SM00060
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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 | ||||||||||||||||||||||