EPOR

Protein identityUniProt · HPA

UniProt accession

P19235

Gene

EPOR

Ensembl

ENSG00000187266

Chromosome

19

Canonical length

508 aa

Protein class

Cancer-related genes, Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins

Subcellular location

Nuclear speckles,Plasma membrane

Secretome location

Intracellular and membrane

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

508 residues, UniProt reviewed canonical sequence.

>P19235|EPOR
     1  MDHLGASLWP QVGSLCLLLA GAAWAPPPNL PDPKFESKAA LLAARGPEEL LCFTERLEDL
    61  VCFWEEAASA GVGPGNYSFS YQLEDEPWKL CRLHQAPTAR GAVRFWCSLP TADTSSFVPL
   121  ELRVTAASGA PRYHRVIHIN EVVLLDAPVG LVARLADESG HVVLRWLPPP ETPMTSHIRY
   181  EVDVSAGNGA GSVQRVEILE GRTECVLSNL RGRTRYTFAV RARMAEPSFG GFWSAWSEPV
   241  SLLTPSDLDP LILTLSLILV VILVLLTVLA LLSHRRALKQ KIWPGIPSPE SEFEGLFTTH
   301  KGNFQLWLYQ NDGCLWWSPC TPFTEDPPAS LEVLSERCWG TMQAVEPGTD DEGPLLEPVG
   361  SEHAQDTYLV LDKWLLPRNP PSEDLPGPGG SVDIVAMDEG SEASSCSSAL ASKPSPEGAS
   421  AASFEYTILD PSSQLLRPWT LCPELPPTPP HLKYLYLVVS DSGISTDYSS GDSQGAQGGL
   481  SDGPYSNPYE NSLIPAAEPL PPSYVACS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPOR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.51

Highest tissue expression

30 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPOR.

Disease | AllUniProt

Conditions EPOR is implicated in, by any mechanism.

• Erythrocytosis, familial, 1 (ECYT1) MIM:133100

Disease | GeneticClinVar

6 pathogenic / likely-pathogenic of 178 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary familial polycythemia due to EPO receptor mutation
• Acute megakaryoblastic leukemia without down syndrome

Disease | ImmuneIEDB

Conditions an epitope on EPOR was assayed in.

• renal cell carcinoma T cell

Disease | AutoantibodyPubMed

Conditions in which antibodies against EPOR are reported. Each links to that disease's full target list.

• Anemia 4
• Kidney Diseases 3
• Lupus Erythematosus, Systemic 3

ReferencesPubMed · IEDB

Publications for EPOR from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.65

gnomAD pLI

0.01

gnomAD missense Z

1.14

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• decidualization
• erythropoietin-mediated signaling pathway
• heart development
• signal transduction

Molecular functions

• identical protein binding
• erythropoietin receptor activity

Cellular components

• external side of plasma membrane
• extracellular region
• nuclear speck
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Long hematopoietin receptor, single chain, conserved site
• Fibronectin type III
• Immunoglobulin-like fold
• Growth hormone/erythropoietin receptor, ligand binding
• Fibronectin type III superfamily
• Fibronectin type III domain
• Erythropoietin receptor, ligand binding
• Erythropoietin receptor

KeywordsUniProt

• Cell membrane
• Congenital erythrocytosis
• Disulfide bond
• Glycoprotein
• Isopeptide bond
• Membrane
• Phosphoprotein
• Receptor
• Secreted
• Signal
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of EPOR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ATXN2L
• CRKL
• JAK2
• PTPN11
• PTPN6
• RHEX
• SOCS3
• SH2B2
• RNF41
• LYN
• EPO