MPL
entrez
4352
canonical
uniprot
P40238
canonical
ensembl
ENSG00000117400
resolver
ensp
ENSP00000361548
resolver
genesymbol
MPL
resolver
genesymbol_syn
TPOR
resolver
hgnc
HGNC:7217
resolver
uniprot
Q5JUZ0
resolver
uniprot_entry
TPOR_HUMAN
resolver
uniprot_sec
Q5JUZ0
resolver
amino_acid_sequence
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPRACPLSSQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPEISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGSCLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRARCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWREISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDPTRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTCEEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP
uniprot
proteins
disease_involvement
DISEASE: Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498]: An autosomal recessive form of congenital amegakaryocytic thrombocytopenia, a hematologic disorder characterized by severe reduction of megakaryocytes and platelets at birth, and evolving into generalized bone marrow aplasia during childhood. {ECO:0000269|PubMed:16470591, ECO:0000269|PubMed:25538044}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:14764528, ECO:0000269|PubMed:19483125, ECO:0000269|PubMed:23441089, ECO:0000269|PubMed:25538044, ECO:0000269|PubMed:32029621}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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:0000269|PubMed:16834459, ECO:0000269|PubMed:16868251}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites for many signaling proteins such as STAT5, SHIP/INPP5D, GRB2, SOS1 and PI3K (PubMed:15899890, PubMed:37633268). In turn, These signaling cascades lead to the proliferation, survival, and differentiation of megakaryocytes, ultimately leading to increased platelet production. {ECO:0000269|PubMed:15899890, ECO:0000269|PubMed:37633268}.
uniprot
proteins
mass_dalton
71245
uniprot
proteins
mutagenesis
MUTAGEN 528; /note="L->A: About 75% loss of cell surface expression; when associated with A-529."; /evidence="ECO:0000269|PubMed:32029621"; MUTAGEN 529; /note="W->A: About 75% loss of cell surface expression; when associated with A-528."; /evidence="ECO:0000269|PubMed:32029621"; MUTAGEN 591; /note="Y->F: Exhibits enhanced and prolonged ERK1/2 activation upon THPO stimulation."; /evidence="ECO:0000269|PubMed:24607955
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Tyr-591 in response to THPO stimulation. {ECO:0000269|PubMed:24607955}.; PTM: Ubiquitination at Lys-553 and Lys-573 targets MPL for degradation by both the lysosomal and proteasomal pathways. The E3 ubiquitin-protein ligase CBL significantly contributes to this ubiquitination. {ECO:0000269|PubMed:19880496}.
uniprot
proteins
protein_family
Type 1 subfamily
uniprot
proteins
protein_family
Type I cytokine receptor family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
11784712
uniprot
proteins
pubmed
14764528
uniprot
proteins
pubmed
15269348
uniprot
proteins
pubmed
15899890
uniprot
proteins
pubmed
1608974
uniprot
proteins
pubmed
16470591
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16834459
uniprot
proteins
pubmed
16868251
uniprot
proteins
pubmed
19483125
uniprot
proteins
pubmed
19880496
uniprot
proteins
pubmed
23441089
uniprot
proteins
pubmed
24607955
uniprot
proteins
pubmed
25538044
uniprot
proteins
pubmed
32029621
uniprot
proteins
pubmed
37633268
uniprot
proteins
pubmed
8020956
uniprot
proteins
sequence_length
635
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15899890, ECO:0000269|PubMed:25538044, ECO:0000269|PubMed:32029621}; Single-pass type I membrane protein. Golgi apparatus {ECO:0000269|PubMed:25538044}. Cell surface {ECO:0000269|PubMed:25538044}.
uniprot
proteins
transmembrane_region
TRANSMEM 492..513; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins