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EPOR erythropoietin receptor [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000121 Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

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Gene Symbol EPOR
Entrez Gene ID 2057
Full Name erythropoietin receptor
Synonyms EPO-R
General protein information
Preferred Names
erythropoietin receptor
Names
erythropoietin receptor
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.[provided by RefSeq, May 2010].
Disorder

MIM: 133171

[Erythrocytosis, familial], 133100 (3)

mRNA Protein Product Sequence Price Select
NM_000121, 296040523 NP_000112, 4503591 erythropoietin receptor precursor ORF Sequence $360.00
KEGG
hsa04060Cytokine-cytokine receptor interaction
hsa04630Jak-STAT signaling pathway
hsa04640Hematopoietic cell lineage
hsa04151PI3K-Akt signaling pathway
WikiPathways
WP304Kit Receptor Signaling Pathway
WP581EPO Receptor Signaling
Pathway Interaction Database
a4b1_paxindep_pathwayPaxillin-independent events mediated by a4b1 and a4b7
kitpathwaySignaling events mediated by Stem cell factor receptor (c-Kit)
epopathwayEPO signaling pathway
Homo sapiens (human)EPORNP_000112.1
Pan troglodytes (chimpanzee)EPORXP_003953409.1
Macaca mulatta (Rhesus monkey)EPORXP_001105833.1
Canis lupus familiaris (dog)EPORNP_001041576.1
Bos taurus (cattle)EPORNP_001192530.1
Mus musculus (house mouse)EporNP_034279.3
Rattus norvegicus (Norway rat)EporNP_058698.2
Danio rerio (zebrafish)eporNP_001036799.1
Process
IDNameEvidence
GO:0007165signal transductionNAS
GO:0007420brain developmentIEA
GO:0007507heart developmentIEA
GO:0009790embryo developmentIEA
GO:0038162erythropoietin-mediated signaling pathwayIDA
GO:0038162erythropoietin-mediated signaling pathwayTAS
GO:0046697decidualizationIEA
Component
IDNameEvidence
GO:0005576extracellular regionIEA
GO:0005887integral component of plasma membraneTAS
Function
IDNameEvidence
GO:0004900erythropoietin receptor activityIDA
GO:0005515protein bindingIPI
GO:0042802identical protein bindingIPI
GeneCards EPOR
UniProt P19235
Vega OTTHUMG00000182027
MIM 133171
Ensembl ENSG00000187266
HGNC 3416
HPRD 00587

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the EPOR gene?

The EPOR gene provides instructions for making a protein called the erythropoietin receptor. Erythropoietin is a hormone that directs the production of new red blood cells (erythrocytes) in the bone marrow. Red blood cells make up about half of total blood volume, and their primary function is to carry oxygen from the lungs to tissues and organs throughout the body. New red blood cells are constantly being produced by the body as worn-out red blood cells are broken down. To trigger the production of red blood cells, erythropoietin attaches (binds) to the erythropoietin receptor. This binding turns on (activates) the receptor, which stimulates several signaling pathways (particularly a cascade of signals known as the JAK/STAT pathway) that lead to the formation and maturation of red blood cells.

Interactant

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