EPO
entrez
2056
canonical
uniprot
P01588
canonical
ensembl
ENSG00000130427
resolver
ensp
ENSP00000252723
resolver
enst
ENST00000252723
resolver
genesymbol
EPO
resolver
hgnc
HGNC:3415
resolver
uniprot
G9JKG7
resolver
uniprot
Q2M2L6
resolver
uniprot
Q549U2
resolver
uniprot
Q9UDZ0
resolver
uniprot
Q9UEZ5
resolver
uniprot
Q9UHA0
resolver
uniprot_entry
EPO_HUMAN
resolver
uniprot_entry
G9JKG7_HUMAN
resolver
uniprot_sec
Q2M2L6
resolver
uniprot_sec
Q549U2
resolver
uniprot_sec
Q9UDZ0
resolver
uniprot_sec
Q9UEZ5
resolver
uniprot_sec
Q9UHA0
resolver
amino_acid_sequence
MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHCSLNENITVPDTKVNFYAWKRMEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTITADTFRKLFRVYSNFLRGKLKLYTGEACRTGDR
uniprot
proteins
disease_involvement
DISEASE: Microvascular complications of diabetes 2 (MVCD2) [MIM:612623]: 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. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.; DISEASE: Erythrocytosis, familial, 5 (ECYT5) [MIM:617907]: An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit. Some patients have increased serum erythropoietin levels. {ECO:0000269|PubMed:27651169, ECO:0000269|PubMed:29514032}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Diamond-Blackfan anemia-like (DBAL) [MIM:617911]: An 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. {ECO:0000269|PubMed:28283061}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Hormone involved in the regulation of erythrocyte proliferation and differentiation and the maintenance of a physiological level of circulating erythrocyte mass (PubMed:28283061). Binds to EPOR leading to EPOR dimerization and JAK2 activation thereby activating specific downstream effectors, including STAT1 and STAT3 (PubMed:9774108). {ECO:0000269|PubMed:28283061, ECO:0000269|PubMed:9774108}.
uniprot
proteins
mass_dalton
21307
uniprot
proteins
mutagenesis
MUTAGEN 127; /note="S->E: Decreased erythrocyte proliferation; impaired EPOR dimerization following binding."; /evidence="ECO:0000269|PubMed:28283061
uniprot
proteins
protein_family
EPO/TPO family
uniprot
proteins
pubmed
11739166
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1820196
uniprot
proteins
pubmed
18458324
uniprot
proteins
pubmed
27651169
uniprot
proteins
pubmed
28283061
uniprot
proteins
pubmed
29514032
uniprot
proteins
pubmed
3219367
uniprot
proteins
pubmed
32989016
uniprot
proteins
pubmed
3346214
uniprot
proteins
pubmed
3838366
uniprot
proteins
pubmed
3865178
uniprot
proteins
pubmed
3949763
uniprot
proteins
pubmed
6698989
uniprot
proteins
pubmed
8396923
uniprot
proteins
pubmed
9774108
uniprot
proteins
pubmed
9783743
uniprot
proteins
pubmed
9799793
uniprot
proteins
sequence_length
193
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:32989016}.
uniprot
proteins