EPO Gene Summary [Human]

This gene encodes a secreted, glycosylated cytokine composed of four alpha helical bundles. The encoded protein is mainly synthesized in the kidney, secreted into the blood plasma, and binds to the erythropoietin receptor to promote red blood cell production, or erythropoiesis, in the bone marrow. Expression of this gene is upregulated under hypoxic conditions, in turn leading to increased erythropoiesis and enhanced oxygen-carrying capacity of the blood. Expression of this gene has also been observed in brain and in the eye, and elevated expression levels have been observed in diabetic retinopathy and ocular hypertension. Recombinant forms of the encoded protein exhibit neuroprotective activity against a variety of potential brain injuries, as well as antiapoptotic functions in several tissue types, and have been used in the treatment of anemia and to enhance the efficacy of cancer therapies. [provided by RefSeq, Aug 2017]

Details

Type
Protein Coding
Official Symbol
EPO
Official Name
erythropoietin [Source:HGNC Symbol;Acc:HGNC:3415]
Ensembl ID
ENSG00000130427
Bio databases IDs NCBI: 2056 Ensembl: ENSG00000130427
Aliases erythropoietin
Synonyms DBAL, ECYT5, EP, epoetin, epoetin alfa, epoetin alfa-epbx, epoetin alfa hexal, epoetin alpha, epoetin α, Epogen, ERYPO, Erythropoietin, erythropoietin alfa, heberitro, HX575, MVCD2, recombinant 1-165 erythropoietin, glycoform alpha, recombinant 1-165 erythropoietin, glycoform α, recombinant erythropoietin-alpha, recombinant erythropoietin-α, r-huEPO, rHuEPO-alpha, rHuEPO-α
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human EPO often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein kinase activator
  • extracellular domain
  • erythropoietin receptor binding
  • alpha helix
  • transmembrane domain
  • Erythropoietin/thrombopoietin
  • hormone
  • protein binding
  • cytokine

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • schizophrenia
  • hepatitis C
  • infection
  • metastasis
  • neoplasia
  • anemia
  • edema
  • acute stroke
  • acute myocardial infarction
  • sepsis
regulated by
  • nitric oxide
  • IL1B
  • TNF
  • N(G)-monomethyl-D-arginine
  • testosterone
  • MAPK9
  • doxorubicin
  • heavy metal
  • FG-4497
  • calphostin C
regulates
role in cell
  • cell death
  • expression in
  • quantity
  • activation in
  • apoptosis
  • binding
  • damage
  • transmembrane potential
  • proliferation
  • survival

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • cell surface
  • Plasma Membrane
  • perikaryon
  • dendrites

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human EPO gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to hyperoxia
  • response to estrogen stimulus
  • response to salt stress
  • positive regulation of cell proliferation
  • positive regulation of neuron differentiation
  • positive regulation of Ras protein signal transduction
  • response to axon injury
  • positive regulation of tyrosine phosphorylation of STAT protein
  • erythrocyte maturation
  • negative regulation of transcription from RNA polymerase II promoter
  • response to hypoxia
  • positive regulation of transcription, DNA-dependent
  • cellular hyperosmotic response
  • positive regulation of neuron projection development
  • response to testosterone stimulus
  • response to electrical stimulus
  • signal transduction
  • blood circulation
  • hemoglobin biosynthetic process
  • erythropoietin-mediated signaling pathway
  • acute-phase response
  • positive regulation of activated T cell proliferation
  • embryo implantation
  • erythrocyte differentiation
  • positive regulation of ERK1 and ERK2 cascade
  • negative regulation of cation channel activity
  • negative regulation of calcium ion transport into cytosol
  • response to interleukin-1
  • response to lipopolysaccharide
  • response to vitamin A
  • response to dexamethasone stimulus
  • myeloid cell apoptotic process

Cellular Component

Where in the cell the gene product is active
  • extracellular space
  • cell body
  • extracellular region
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • erythropoietin receptor binding
  • protein binding
  • protein kinase activator activity
  • cytokine activity
  • hormone activity

Gene-Specific Assays for Results You Can Trust

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