Erythropoietin Receptor (EPOR) Human Recombinant Protein

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]

EPOR: erythropoietin receptor: a member of the cytokine receptor family. Mediates erythropoietin-induced erythroblast proliferation, differentiation and survival. Upon EPO stimulation, EPOR dimerizes triggering the JAK2/STAT5 signaling cascade. In some cell types, can also activate STAT1 and STAT3. Forms homodimers on EPO stimulation. Tyrosine-phosphorylated EpoR may bind several SH2 domain-containing proteins including LYN, the adapter protein APS, SHP-1, SHP-2, JAK2, PI3 kinases, STAT5A/B, SOCS3, and CRKL. Defects in the erythropoietin receptor may produce erythroleukemia and familial erythrocytosis. Three alternatively-spliced isoforms have been described. Isoform EPOR-T, missing the cytoplasmic tail, acts as a dominant-negative receptor of EPOR-mediated signaling.

Protein type: Membrane protein, integral; Receptor, cytokine

Chromosomal Location of Human Ortholog: 19p13.3-p13.2

Cellular Component: integral to plasma membrane; extracellular region

Molecular Function: identical protein binding; protein binding; erythropoietin receptor activity

Biological Process: heart development; brain development; decidualization; signal transduction

Disease: Erythrocytosis, Familial, 1