TPOR_HUMAN
Source:
BD_CD
Marked as 'Integral membrane protein'
Confidence:
high (a blood group or CD marker)
Search PubMed for
(RBC AND this entry)
Gene names:
MPL
, TPOR
Protein names and data:
TPOR_HUMAN
, Thrombopoietin receptor; TPO-R
, Myeloproliferative leukemia protein; Proto-oncogene c-Mpl; CD110; Flags: Precursor
Lenght: 635 a.a.
Mass: 71245 Da
fasta formatted sequence
Function:
Receptor for thrombopoietin. May represent a regulatory molecule specific for TPO-R-dependent immune responses.
Disease:
( OMIM:
159530
254450
601977
604498
)
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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Single-pass type I membrane protein.
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.
Genetic variants
39 - 39
K -> N (functional polymorphism associated with thrombocytosis; results in altered MPL expression; dbSNP:rs17292650). VAR_049173
17292650
58 - 58
A -> V (in dbSNP:rs6087). VAR_011988
6087
114 - 114
V -> M (in dbSNP:rs12731981). VAR_049174
12731981
168 - 168
E -> K (in dbSNP:rs6088). VAR_011989
6088
505 - 505
S -> N (in THCYT2; activating mutation; induces MPL autonomous dimerization and signal activation in the absence of the ligand; dbSNP:rs121913614). VAR_067559
121913614
515 - 515
W -> K (in MMM; somatic mutation; requires 2 nucleotide substitutions). VAR_067560
515 - 515
W -> L (in THCYT2 and MMM; somatic mutation in myelofibrosis with myeloid metaplasia; results in cytokine- independent growth and thrombopoietin hypersensitivity; results in constitutive activation of JAK-STAT signaling pathway; dbSNP:rs121913615). VAR_067561
121913615
Database cross-references
UniProt:
P40238
Ensembl:
ENST00000372470
MIM:
159530
MIM:
254450
MIM:
601977
MIM:
604498
neXtProt:
NX_P40238
Antibodypedia:
P40238
(may not find the protein thus also not any antibody)
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