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UniProtKB - P01588 (EPO_HUMAN)

Entry version 201 (17 Jun 2020)
Sequence version 1 (21 Jul 1986)
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Protein

Erythropoietin

Gene

EPO

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass. Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionHormone
Biological processErythrocyte maturation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-9006335 Signaling by Erythropoietin
R-HSA-9027276 Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
R-HSA-9027277 Erythropoietin activates Phospholipase C gamma (PLCG)
R-HSA-9027283 Erythropoietin activates STAT5
R-HSA-9027284 Erythropoietin activates RAS

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P01588

SIGNOR Signaling Network Open Resource

More...SIGNORi		P01588

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Erythropoietin
Alternative name(s):
INN: Epoetin
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EPO
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000130427.2

Human Gene Nomenclature Database

More...HGNCi		HGNC:3415 EPO

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		133170 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P01588

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Microvascular complications of diabetes 2 (MVCD2)
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionPathological 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.
Related information in OMIM
Erythrocytosis, familial, 5 (ECYT5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_08057370D → N in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62483572Ensembl.1
Natural variantiVAR_08057484G → R in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137953994Ensembl.1
Natural variantiVAR_080576114P → L in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs11976235Ensembl.1
Natural variantiVAR_080577147S → C in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149431976Ensembl.1
Diamond-Blackfan anemia-like (DBAL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive hematologic disease characterized by severe red cell hypoplastic anemia, selective absence of red cell precursors and progenitors seen on bone marrow biopsy, and increased serum erythropoietin.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078447177R → Q in DBAL; loss of support of normal erythroid expansion or differentiation; reduced ability to promote EPOR dimer formation upon binding, resulting in reduced JAK2 activation and decreased STAT1 and STAT3 phosphorylation; mild decrease in affinity for EPOR; no effect on STAT5A phosphorylation. 1 PublicationCorresponds to variant dbSNP:rs1358275550EnsemblClinVar.1

<p>This subsection of the 'Pathology and Biotech' section describes the use of a protein as a pharmaceutical drug. It indicates the name of the drug, the name of the firm that commercializes it and explains in a few words in which context the drug is used. In some cases, drugs that are under development are also described.<p><a href='/help/pharmaceutical_use' target='_top'>More...</a></p>Pharmaceutical usei

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.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi127S → E: Decreased erythrocyte proliferation; impaired EPOR dimerization following binding. 1 Publication1

Keywords - Diseasei

Congenital erythrocytosis, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		2056

MalaCards human disease database

More...MalaCardsi		EPO
MIMi612623 phenotype
617907 phenotype
617911 phenotype

Open Targets

More...OpenTargetsi		ENSG00000130427

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		247511 Autosomal dominant secondary polycythemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27833

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P01588 Tbio

Protein family/group databases

Allergome; a platform for allergen knowledge

More...Allergomei		11697 Hom s EPO

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL5837

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EPO

Domain mapping of disease mutations (DMDM)

More...DMDMi		119526

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 271 PublicationAdd BLAST27
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000840128 – 193ErythropoietinAdd BLAST166

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi34 ↔ 1881 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>GlycosylationiCAR_00005251N-linked (GlcNAc...) asparagine1 Publication1
Disulfide bondi56 ↔ 601 Publication
GlycosylationiCAR_00016665N-linked (GlcNAc...) asparagine1 Publication1
GlycosylationiCAR_000192110N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi153O-linked (GalNAc...) serine1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P01588

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P01588

PeptideAtlas

More...PeptideAtlasi		P01588

PRoteomics IDEntifications database

More...PRIDEi		P01588

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51392

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		140
141
142

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P01588

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P01588

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P01588

UniCarbKB; an annotated and curated database of glycan structures

More...UniCarbKBi		P01588

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Produced by kidney or liver of adult mammals and by liver of fetal or neonatal mammals.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000130427 Expressed in right lobe of liver and 65 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P01588 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P01588 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000130427 Tissue enhanced (cervix, uterine, endometrium, liver)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		108370, 6 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P01588

Database of interacting proteins

More...DIPi		DIP-5731N

Protein interaction database and analysis system

More...IntActi		P01588, 5 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000252723

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P01588 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1193
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P01588

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P01588

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the EPO/TPO family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IHW5 Eukaryota
ENOG410XTRF LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000017226

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_110946_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P01588

KEGG Orthology (KO)

More...KOi		K05437

Identification of Orthologs from Complete Genome Data

More...OMAi		ACQQDVS

Database of Orthologous Groups

More...OrthoDBi		1175751at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P01588

TreeFam database of animal gene trees

More...TreeFami		TF333413

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR009079 4_helix_cytokine-like_core
IPR019767 EPO/TPO_CS
IPR001323 EPO_TPO
IPR003013 Erythroptn

The PANTHER Classification System

More...PANTHERi		PTHR10370 PTHR10370, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00758 EPO_TPO, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF001951 EPO, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00272 ERYTHROPTN

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47266 SSF47266, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00817 EPO_TPO, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

P01588-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGVHECPAWL WLLLSLLSLP LGLPVLGAPP RLICDSRVLE RYLLEAKEAE 
        60         70         80         90        100
NITTGCAEHC SLNENITVPD TKVNFYAWKR MEVGQQAVEV WQGLALLSEA 
       110        120        130        140        150
VLRGQALLVN SSQPWEPLQL HVDKAVSGLR SLTTLLRALG AQKEAISPPD 
       160        170        180        190 
AASAAPLRTI TADTFRKLFR VYSNFLRGKL KLYTGEACRT GDR
Length:193
Mass (Da):21,307
Last modified:July 21, 1986 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC91F0E4C26A52033
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti40E → Q in CAA26095 (PubMed:3838366).Curated1
Sequence conflicti85Q → QQ AA sequence (PubMed:3949763).Curated1
Sequence conflicti140G → R in CAA26095 (PubMed:3838366).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08057370D → N in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62483572Ensembl.1
Natural variantiVAR_08057484G → R in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs137953994Ensembl.1
Natural variantiVAR_08057599E → G Found in a patient thought to have erythrocytosis, but had normal red cell mass; unknown pathological significance. 1 Publication1
Natural variantiVAR_080576114P → L in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs11976235Ensembl.1
Natural variantiVAR_009870131 – 132SL → NF in a hepatocellular carcinoma. 2
Natural variantiVAR_080577147S → C in ECYT5; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs149431976Ensembl.1
Natural variantiVAR_009871149P → Q in a hepatocellular carcinoma. 1 Publication1
Natural variantiVAR_078447177R → Q in DBAL; loss of support of normal erythroid expansion or differentiation; reduced ability to promote EPOR dimer formation upon binding, resulting in reduced JAK2 activation and decreased STAT1 and STAT3 phosphorylation; mild decrease in affinity for EPOR; no effect on STAT5A phosphorylation. 1 PublicationCorresponds to variant dbSNP:rs1358275550EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
X02158 Genomic DNA Translation: CAA26095.1
X02157 mRNA Translation: CAA26094.1
M11319 Genomic DNA Translation: AAA52400.1
AF053356 Genomic DNA Translation: AAC78791.1
AF202308, AF202306, AF202307 Genomic DNA Translation: AAF23132.1
AH009004 Genomic DNA Translation: AAF23133.1
AF202311 Genomic DNA Translation: AAF17572.1
AF202314, AF202312, AF202313 Genomic DNA Translation: AAF23134.1
AC009488 Genomic DNA Translation: AAP22357.1
BC093628 mRNA Translation: AAH93628.1
BC111937 mRNA Translation: AAI11938.1
S65458 mRNA Translation: AAD13964.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5705.1

Protein sequence database of the Protein Information Resource

More...PIRi		A01855 ZUHU

NCBI Reference Sequences

More...RefSeqi		NP_000790.2, NM_000799.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000252723; ENSP00000252723; ENSG00000130427

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2056

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2056

UCSC genome browser

More...UCSCi		uc003uwi.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Wikipedia

Erythropoietin entry

Protein Spotlight

Journey into a tiny world - Issue 84 of July 2007

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X02158 Genomic DNA Translation: CAA26095.1
X02157 mRNA Translation: CAA26094.1
M11319 Genomic DNA Translation: AAA52400.1
AF053356 Genomic DNA Translation: AAC78791.1
AF202308, AF202306, AF202307 Genomic DNA Translation: AAF23132.1
AH009004 Genomic DNA Translation: AAF23133.1
AF202311 Genomic DNA Translation: AAF17572.1
AF202314, AF202312, AF202313 Genomic DNA Translation: AAF23134.1
AC009488 Genomic DNA Translation: AAP22357.1
BC093628 mRNA Translation: AAH93628.1
BC111937 mRNA Translation: AAI11938.1
S65458 mRNA Translation: AAD13964.1
CCDSiCCDS5705.1
PIRiA01855 ZUHU
RefSeqiNP_000790.2, NM_000799.2

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1BUYNMR-A28-193[»]
1CN4X-ray2.80C28-193[»]
1EERX-ray1.90A28-193[»]
SMRiP01588
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi108370, 6 interactors
CORUMiP01588
DIPiDIP-5731N
IntActiP01588, 5 interactors
STRINGi9606.ENSP00000252723

Chemistry databases

ChEMBLiCHEMBL5837

Protein family/group databases

Allergomei11697 Hom s EPO

PTM databases

GlyConnecti140
141
142
iPTMnetiP01588
MetOSiteiP01588
PhosphoSitePlusiP01588
UniCarbKBiP01588

Polymorphism and mutation databases

BioMutaiEPO
DMDMi119526

Proteomic databases

EPDiP01588
PaxDbiP01588
PeptideAtlasiP01588
PRIDEiP01588
ProteomicsDBi51392

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		4151 1243 antibodies

Genome annotation databases

EnsembliENST00000252723; ENSP00000252723; ENSG00000130427
GeneIDi2056
KEGGihsa:2056
UCSCiuc003uwi.5 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2056
DisGeNETi2056
EuPathDBiHostDB:ENSG00000130427.2

GeneCards: human genes, protein and diseases

More...GeneCardsi		EPO
HGNCiHGNC:3415 EPO
HPAiENSG00000130427 Tissue enhanced (cervix, uterine, endometrium, liver)
MalaCardsiEPO
MIMi133170 gene
612623 phenotype
617907 phenotype
617911 phenotype
neXtProtiNX_P01588
OpenTargetsiENSG00000130427
Orphaneti247511 Autosomal dominant secondary polycythemia
PharmGKBiPA27833

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IHW5 Eukaryota
ENOG410XTRF LUCA
GeneTreeiENSGT00390000017226
HOGENOMiCLU_110946_0_0_1
InParanoidiP01588
KOiK05437
OMAiACQQDVS
OrthoDBi1175751at2759
PhylomeDBiP01588
TreeFamiTF333413

Enzyme and pathway databases

ReactomeiR-HSA-1234158 Regulation of gene expression by Hypoxia-inducible Factor
R-HSA-9006335 Signaling by Erythropoietin
R-HSA-9027276 Erythropoietin activates Phosphoinositide-3-kinase (PI3K)
R-HSA-9027277 Erythropoietin activates Phospholipase C gamma (PLCG)
R-HSA-9027283 Erythropoietin activates STAT5
R-HSA-9027284 Erythropoietin activates RAS
SignaLinkiP01588
SIGNORiP01588

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		2056 2 hits in 787 CRISPR screens
EvolutionaryTraceiP01588

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Erythropoietin

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2056
PharosiP01588 Tbio

Protein Ontology

More...PROi		PR:P01588
RNActiP01588 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000130427 Expressed in right lobe of liver and 65 other tissues
ExpressionAtlasiP01588 baseline and differential
GenevisibleiP01588 HS

Family and domain databases

InterProiView protein in InterPro
IPR009079 4_helix_cytokine-like_core
IPR019767 EPO/TPO_CS
IPR001323 EPO_TPO
IPR003013 Erythroptn
PANTHERiPTHR10370 PTHR10370, 1 hit
PfamiView protein in Pfam
PF00758 EPO_TPO, 1 hit
PIRSFiPIRSF001951 EPO, 1 hit
PRINTSiPR00272 ERYTHROPTN
SUPFAMiSSF47266 SSF47266, 1 hit
PROSITEiView protein in PROSITE
PS00817 EPO_TPO, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEPO_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P01588
Secondary accession number(s): Q2M2L6
, Q549U2, Q9UDZ0, Q9UEZ5, Q9UHA0
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: June 17, 2020
This is version 201 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Direct protein sequencing, Pharmaceutical, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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