Human Gene EPO (ENST00000252723.3) Description and Page Index
Description: Homo sapiens erythropoietin (EPO), mRNA. (from RefSeq NM_000799) RefSeq Summary (NM_000799): 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]. Gencode Transcript: ENST00000252723.3 Gencode Gene: ENSG00000130427.3 Transcript (Including UTRs) Position: hg38 chr7:100,720,468-100,723,700 Size: 3,233 Total Exon Count: 5 Strand: + Coding Region Position: hg38 chr7:100,720,981-100,723,133 Size: 2,153 Coding Exon Count: 5
ID:EPO_HUMAN DESCRIPTION: RecName: Full=Erythropoietin; AltName: INN=Epoetin; Flags: Precursor; FUNCTION: Erythropoietin is the principal hormone involved in the regulation of erythrocyte differentiation and the maintenance of a physiological level of circulating erythrocyte mass. INTERACTION: P19235:EPOR; NbExp=2; IntAct=EBI-1027362, EBI-617321; SUBCELLULAR LOCATION: Secreted. TISSUE SPECIFICITY: Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals. DISEASE: Genetic variation in EPO is associated with susceptbility to microvascular complications of diabetes type 2 (MVCD2) [MIM:612623]. These are pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end-stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. PHARMACEUTICAL: Used for the treatment of anemia. Available under the names Epogen (Amgen), Epogin (Chugai), Epomax (Elanex), Eprex (Janssen-Cilag), NeoRecormon or Recormon (Roche), Dynepo (Shire Pharmaceuticals) and Procrit (Ortho Biotech). Variations in the glycosylation pattern of EPO distinguishes these products. Epogen, Epogin, Eprex and Procrit are generically known as epoetin alfa, NeoRecormon and Recormon as epoetin beta, Dynepo as epoetin delta and Epomax as epoetin omega. Epoetin zeta is the name used for some 'biosimilars' forms of epoetin alfa and is available under the names Silapo (Stada) and Retacrit (Hospira). Darbepoetin alfa is a form created by 5 substitutions (Asn-57, Thr-59, Val-114, Asn-115 and Thr-117) that create 2 new N-glycosylation sites. It has a longer circulating half-life in vivo. It is available under the name Aranesp (Amgen). EPO is being much misused as a performance-enhancing drug in endurance athletes. SIMILARITY: Belongs to the EPO/TPO family. WEB RESOURCE: Name=R&D Systems' cytokine source book: Erythropoietin; URL="http://www.rndsystems.com/molecule_detail.aspx?m=1405"; WEB RESOURCE: Name=Wikipedia; Note=Erythropoietin entry; URL="http://en.wikipedia.org/wiki/Erythropoietin";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P01588
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project h_eponfkbPathway - Erythropoietin mediated neuroprotection through NF-kB h_erythPathway - Erythrocyte Differentiation Pathway h_epoPathway - EPO Signaling Pathway h_hifPathway - Hypoxia-Inducible Factor in the Cardiovascular System h_stemPathway - Regulation of hematopoiesis by cytokines