InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EPOR

Summary

InnateDB Protein

IDBP-29283.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EPOR

Protein Name

erythropoietin receptor

Synonyms

EPO-R;

Species

Homo sapiens

Ensembl Protein

ENSP00000222139

InnateDB Gene

IDBG-29281 (EPOR)

Protein Structure

UniProt Annotation

Function

Receptor for erythropoietin. Mediates erythropoietin- induced erythroblast proliferation and differentiation. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. May also activate the LYN tyrosine kinase.Isoform EPOR-T acts as a dominant-negative receptor of EPOR-mediated signaling.

Subcellular Localization

Cell membrane; Single-pass type I membrane protein.Isoform EPOR-S: Secreted {ECO:0000269PubMed:11722595}. Note=Secreted and located to the cell surface.

Disease Associations

Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]: An autosomal dominant disorder characterized by increased serum red blood cell mass, elevated hemoglobin and hematocrit, hypersensitivity of erythroid progenitors to erythropoietin, erythropoietin low serum levels, and no increase in platelets nor leukocytes. It has a relatively benign course and does not progress to leukemia. {ECO:0000269PubMed:8174675, ECO:0000269PubMed:8506290, ECO:0000269PubMed:8608241}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Erythroid cells and erythroid progenitor cells. Isoform EPOR-F is the most abundant form in EPO-dependent erythroleukemia cells and in late-stage erythroid progenitors. Isoform EPOR-S and isoform EPOR-T are the predominant forms in bone marrow. Isoform EPOR-T is the most abundant from in early- stage erythroid progenitor cells.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 64 experimentally validated interaction(s) in this database.
They are also associated with 15 interaction(s) predicted by orthology.

Experimentally validated
Total	64 [view]
Protein-Protein	64 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	15 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0004900	erythropoietin receptor activity
GO:0005515	protein binding
GO:0042802	identical protein binding

Biological Process

GO:0007165	signal transduction
GO:0007420	brain development
GO:0007507	heart development
GO:0038162	erythropoietin-mediated signaling pathway
GO:0045087	innate immune response (InnateDB)
GO:0046697	decidualization