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EPOR erythropoietin receptor [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_000121 Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. Full Length $713.11
ORF Sequence $442.83


Gene Symbol EPOR
Entrez Gene ID 2057
Full Name erythropoietin receptor
Synonyms EPO-R, MGC138358
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

19

19p13.3-p13.2
Summary This gene encodes the erythropoietin receptor which is a member of the cytokine receptor family. Upon erythropoietin binding, this receptor activates Jak2 tyrosine kinase which activates different intracellular pathways including: Ras/MAP kinase, phosphatidylinositol 3-kinase and STAT transcription factors. The stimulated erythropoietin receptor appears to have a role in erythroid cell survival. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Dysregulation of this gene may affect the growth of certain tumors. Alternate splicing results in multiple transcript variants.
Disorder

MIM: 133171

[Erythrocytosis, familial], 133100 (3)
mRNA NM_000121, 296040523
Protein NP_000112, 4503591
Product erythropoietin receptor precursor
RefSeq Status REVIEWED
KEGG
hsa04060Cytokine-cytokine receptor interaction
hsa04640Hematopoietic cell lineage
hsa04630Jak-STAT signaling pathway
Pathway Interaction Database
a4b1_paxindep_pathwayPaxillin-independent events mediated by a4b1 and a4b7
epopathwayEPO signaling pathway
kitpathwaySignaling events mediated by Stem cell factor receptor (c-Kit)
WikiPathways
WP581EPO Receptor Signaling
WP304Kit Receptor Signaling Pathway
Homo sapiens (human)EPORNP_000112.1
Canis lupus familiaris (dog)EPORXP_542059.1
Bos taurus (cattle)EPORXP_583711.2
Mus musculus (house mouse)EporNP_034279.3
Rattus norvegicus (Norway rat)EporNP_058698.2
Danio rerio (zebrafish)eporNP_001036799.1
Process
IDNameEvidence
GO:0007165signal transductionIEA
GO:0007204elevation of cytosolic calcium ion concentrationIEA
GO:0007420brain developmentIEA
GO:0007507heart developmentIEA
GO:0009790embryo developmentIEA
GO:0046697decidualizationIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005886plasma membraneIEA
GO:0005887integral to plasma membraneTAS
Function
IDNameEvidence
GO:0004900erythropoietin receptor activityIDA
GO:0005515protein bindingIPI
GO:0042802identical protein bindingIPI
GeneCards EPOR
PDB 2JIX, 1EBP, 1EBA, 1CN4, 1ERN, 1EER
UniProt P19235
MIM 133171
Ensembl ENSG00000187266
HGNC 3416
HPRD 00587

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