No CSI details found for gene ID: 2056
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 2759517898
Symbol: EPO_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3838366
Title: Isolation and characterization of genomic and cDNA clones of human erythropoietin.
PubMed ID: 3838366
DOI: 10.1038/313806a0
PubMed ID: 3865178
Title: Cloning and expression of the human erythropoietin gene.
PubMed ID: 3865178
PubMed ID: 9799793
Title: Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.
PubMed ID: 9799793
DOI: 10.1101/gr.8.10.1060
PubMed ID: 12853948
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8396923
Title: Gene expression of mutant erythropoietin in hepatocellular carcinoma.
PubMed ID: 8396923
PubMed ID: 3949763
Title: Structural characterization of human erythropoietin.
PubMed ID: 3949763
PubMed ID: 6698989
Title: Isolation of human erythropoietin with monoclonal antibodies.
PubMed ID: 6698989
PubMed ID: 3346214
Title: Comparative study of the asparagine-linked sugar chains of human erythropoietins purified from urine and the culture medium of recombinant Chinese hamster ovary cells.
PubMed ID: 3346214
PubMed ID: 3219367
Title: Site-specific glycosylation of human recombinant erythropoietin: analysis of glycopeptides or peptides at each glycosylation site by fast atom bombardment mass spectrometry.
PubMed ID: 3219367
DOI: 10.1021/bi00423a017
PubMed ID: 1820196
Title: Structures and functional roles of the sugar chains of human erythropoietins.
PubMed ID: 1820196
PubMed ID: 11739166
Title: Sugar profiling proves that human serum erythropoietin differs from recombinant human erythropoietin.
PubMed ID: 11739166
PubMed ID: 32989016
Title: The endoplasmic reticulum cargo receptor SURF4 facilitates efficient erythropoietin secretion.
PubMed ID: 32989016
DOI: 10.1128/mcb.00180-20
PubMed ID: 29514032
Title: A Gain-of-function mutation in EPO in familial erythrocytosis.
PubMed ID: 29514032
PubMed ID: 9774108
Title: Efficiency of signalling through cytokine receptors depends critically on receptor orientation.
PubMed ID: 9774108
DOI: 10.1038/26773
PubMed ID: 9783743
Title: NMR structure of human erythropoietin and a comparison with its receptor bound conformation.
PubMed ID: 9783743
DOI: 10.1038/2302
PubMed ID: 18458324
Title: Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.
PubMed ID: 18458324
PubMed ID: 27651169
Title: Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
PubMed ID: 27651169
PubMed ID: 28283061
Title: Functional selectivity in cytokine signaling revealed through a pathogenic EPO mutation.
PubMed ID: 28283061
Sequence Information:
- Length: 193
- Mass: 21307
- Checksum: C91F0E4C26A52033
- Sequence:
MGVHECPAWL WLLLSLLSLP LGLPVLGAPP RLICDSRVLE RYLLEAKEAE NITTGCAEHC SLNENITVPD TKVNFYAWKR MEVGQQAVEV WQGLALLSEA VLRGQALLVN SSQPWEPLQL HVDKAVSGLR SLTTLLRALG AQKEAISPPD AASAAPLRTI TADTFRKLFR VYSNFLRGKL KLYTGEACRT GDR
Details Unavailable
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{
"geneID": 2056,
"tax": {
"id": 9606,
"name": [
{
"name": "Homo sapiens Linnaeus 1758"
},
{
"name": "Homo sapiens",
"type": 0
},
{
"name": "human",
"type": 4
}
]
},
"accession": {
"gene": [
"CP068271.2"
]
},
"genePos": {
"start": 4669,
"end": 7901
},
"orientation": true,
"symbol": "EPO",
"created": {
"$date": {
"$numberLong": "1738333348791"
}
},
"crossReference": {
"enseGeneID": "ENSG00000130427",
"enseRnaID": [
"ENST00000252723.3"
],
"enseProtID": [
"ENSP00000252723.2"
]
},
"chrom": {
"pos": "7",
"type": 1,
"loc": "7q22.1"
},
"desc": "erythropoietin",
"geneType": 5,
"mim": [
{
"id": 133170,
"relation": 0
}
],
"ontology": [
{
"id": "R-HSA-162582",
"term": "Signal Transduction",
"cat": 10
},
{
"id": "R-HSA-8953897",
"term": "Cellular responses to stimuli",
"cat": 10
},
{
"id": "R-HSA-2262752",
"term": "Cellular responses to stress",
"cat": 11
},
{
"id": "R-HSA-9006335",
"term": "Signaling by Erythropoietin",
"cat": 11
},
{
"id": "R-HSA-1234174",
"term": "Cellular response to hypoxia",
"cat": 12
},
{
"id": "R-HSA-9027276",
"term": "Erythropoietin activates Phosphoinositide-3-kinase (PI3K)",
"cat": 12
},
{
"id": "R-HSA-9027277",
"term": "Erythropoietin activates Phospholipase C gamma (PLCG)",
"cat": 12
},
{
"id": "R-HSA-9027283",
"term": "Erythropoietin activates STAT5",
"cat": 12
},
{
"id": "R-HSA-9027284",
"term": "Erythropoietin activates RAS",
"cat": 12
},
{
"id": "R-HSA-1234158",
"term": "Regulation of gene expression by Hypoxia-inducible Factor",
"cat": 13
},
{
"id": "GO:0005125",
"term": "cytokine activity",
"cat": 0
},
{
"id": "GO:0005125",
"term": "cytokine activity",
"pubMed": [
9774108,
28283061
],
"cat": 0
},
{
"id": "GO:0005128",
"term": "erythropoietin receptor binding",
"cat": 0
},
{
"id": "GO:0005128",
"term": "erythropoietin receptor binding",
"pubMed": [
28283061
],
"cat": 0
},
{
"id": "GO:0005179",
"term": "hormone activity",
"pubMed": [
9722506
],
"cat": 0
},
{
"id": "GO:0005515",
"term": "protein binding",
"pubMed": [
9774108,
26481148,
29997244,
33961781
],
"cat": 0
},
{
"id": "GO:0030295",
"term": "protein kinase activator activity",
"cat": 0
},
{
"id": "GO:0000122",
"term": "negative regulation of transcription by RNA polymerase II",
"pubMed": [
16497104
],
"cat": 1
},
{
"id": "GO:0001666",
"term": "response to hypoxia",
"cat": 1
},
{
"id": "GO:0006953",
"term": "acute-phase response",
"cat": 1
},
{
"id": "GO:0007165",
"term": "signal transduction",
"pubMed": [
3838366
],
"cat": 1
},
{
"id": "GO:0007566",
"term": "embryo implantation",
"cat": 1
},
{
"id": "GO:0008015",
"term": "blood circulation",
"pubMed": [
3838366
],
"cat": 1
},
{
"id": "GO:0008284",
"term": "positive regulation of cell population proliferation",
"cat": 1
},
{
"id": "GO:0008284",
"term": "positive regulation of cell population proliferation",
"pubMed": [
9722506
],
"cat": 1
},
{
"id": "GO:0009651",
"term": "response to salt stress",
"cat": 1
},
{
"id": "GO:0010523",
"term": "negative regulation of calcium ion transport into cytosol",
"pubMed": [
14569084
],
"cat": 1
},
{
"id": "GO:0010976",
"term": "positive regulation of neuron projection development",
"cat": 1
},
{
"id": "GO:0018105",
"term": "peptidyl-serine phosphorylation",
"cat": 1
},
{
"id": "GO:0030218",
"term": "erythrocyte differentiation",
"pubMed": [
15084469
],
"cat": 1
},
{
"id": "GO:0030218",
"term": "erythrocyte differentiation",
"pubMed": [
28283061
],
"cat": 1
},
{
"id": "GO:0032496",
"term": "response to lipopolysaccharide",
"cat": 1
},
{
"id": "GO:0033028",
"term": "myeloid cell apoptotic process",
"cat": 1
},
{
"id": "GO:0033189",
"term": "response to vitamin A",
"cat": 1
},
{
"id": "GO:0033574",
"term": "response to testosterone",
"cat": 1
},
{
"id": "GO:0038162",
"term": "erythropoietin-mediated signaling pathway",
"cat": 1
},
{
"id": "GO:0038162",
"term": "erythropoietin-mediated signaling pathway",
"pubMed": [
9722506,
9774108
],
"cat": 1
},
{
"id": "GO:0038162",
"term": "erythropoietin-mediated signaling pathway",
"pubMed": [
28283061
],
"cat": 1
},
{
"id": "GO:0042104",
"term": "positive regulation of activated T cell proliferation",
"cat": 1
},
{
"id": "GO:0042541",
"term": "hemoglobin biosynthetic process",
"cat": 1
},
{
"id": "GO:0043249",
"term": "erythrocyte maturation",
"cat": 1
},
{
"id": "GO:0043627",
"term": "response to estrogen",
"cat": 1
},
{
"id": "GO:0045666",
"term": "positive regulation of neuron differentiation",
"cat": 1
},
{
"id": "GO:0045860",
"term": "positive regulation of protein kinase activity",
"cat": 1
},
{
"id": "GO:0045893",
"term": "positive regulation of DNA-templated transcription",
"pubMed": [
9722506
],
"cat": 1
},
{
"id": "GO:0046579",
"term": "positive regulation of Ras protein signal transduction",
"cat": 1
},
{
"id": "GO:0046579",
"term": "positive regulation of Ras protein signal transduction",
"pubMed": [
9722506
],
"cat": 1
},
{
"id": "GO:0048678",
"term": "response to axon injury",
"cat": 1
},
{
"id": "GO:0051602",
"term": "response to electrical stimulus",
"cat": 1
},
{
"id": "GO:0055093",
"term": "response to hyperoxia",
"cat": 1
},
{
"id": "GO:0070374",
"term": "positive regulation of ERK1 and ERK2 cascade",
"cat": 1
},
{
"id": "GO:0070555",
"term": "response to interleukin-1",
"cat": 1
},
{
"id": "GO:0071474",
"term": "cellular hyperosmotic response",
"pubMed": [
14569084
],
"cat": 1
},
{
"id": "GO:0071548",
"term": "response to dexamethasone",
"cat": 1
},
{
"id": "GO:0097696",
"term": "cell surface receptor signaling pathway via STAT",
"pubMed": [
9722506
],
"cat": 1
},
{
"id": "GO:1902219",
"term": "negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress",
"pubMed": [
14569084
],
"cat": 1
},
{
"id": "GO:1902251",
"term": "negative regulation of erythrocyte apoptotic process",
"pubMed": [
14569084
],
"cat": 1
},
{
"id": "GO:2001258",
"term": "negative regulation of cation channel activity",
"pubMed": [
14569084
],
"cat": 1
},
{
"id": "GO:0005576",
"term": "extracellular region",
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"pubMed": [
32989016
],
"cat": 2
},
{
"id": "GO:0005615",
"term": "extracellular space",
"pubMed": [
14569084
],
"cat": 2
},
{
"id": "GO:0009986",
"term": "cell surface",
"pubMed": [
14569084
],
"cat": 2
},
{
"id": "GO:0044297",
"term": "cell body",
"cat": 2
}
],
"protein": [
{
"symbol": "EPO_HUMAN",
"accession": [
"P01588",
"Q2M2L6",
"Q549U2",
"Q9UDZ0",
"Q9UEZ5",
"Q9UHA0"
],
"databaseIDs": {
"NCBI Taxonomy": [
"9606"
],
"MIM": [
"612623",
"617907",
"617911",
"133170",
"612623",
"617907",
"617911"
],
"EMBL": [
"X02158",
"X02157",
"M11319",
"AF053356",
"AF202308",
"AF202306",
"AF202307",
"AH009004",
"AF202311",
"AF202314",
"AF202312",
"AF202313",
"AC009488",
"BC093628",
"BC111937",
"S65458"
],
"CCDS": [
"CCDS5705.1"
],
"PIR": [
"A01855"
],
"RefSeq": [
"NP_000790.2"
],
"PDB": [
"1BUY",
"1CN4",
"1EER"
],
"PDBsum": [
"1BUY",
"1CN4",
"1EER"
],
"AlphaFoldDB": [
"P01588"
],
"SMR": [
"P01588"
],
"BioGRID": [
"108370"
],
"CORUM": [
"P01588"
],
"DIP": [
"DIP-5731N"
],
"IntAct": [
"P01588"
],
"MINT": [
"P01588"
],
"STRING": [
"9606.ENSP00000252723"
],
"ChEMBL": [
"CHEMBL5837"
],
"Allergome": [
"11697"
],
"GlyConnect": [
"140"
],
"GlyCosmos": [
"P01588"
],
"GlyGen": [
"P01588"
],
"iPTMnet": [
"P01588"
],
"MetOSite": [
"P01588"
],
"PhosphoSitePlus": [
"P01588"
],
"BioMuta": [
"EPO"
],
"DMDM": [
"119526"
],
"MassIVE": [
"P01588"
],
"PaxDb": [
"9606-ENSP00000252723"
],
"PeptideAtlas": [
"P01588"
],
"Antibodypedia": [
"4151"
],
"DNASU": [
"2056"
],
"Ensembl": [
"ENST00000252723.3"
],
"KEGG": [
"hsa:2056"
],
"MANE-Select": [
"ENST00000252723.3"
],
"UCSC": [
"uc003uwi.5"
],
"AGR": [
"HGNC:3415"
],
"CTD": [
"2056"
],
"DisGeNET": [
"2056"
],
"GeneCards": [
"EPO"
],
"HGNC": [
"HGNC:3415"
],
"HPA": [
"ENSG00000130427"
],
"MalaCards": [
"EPO"
],
"neXtProt": [
"NX_P01588"
],
"OpenTargets": [
"ENSG00000130427"
],
"Orphanet": [
"247511"
],
"PharmGKB": [
"PA27833"
],
"VEuPathDB": [
"HostDB:ENSG00000130427"
],
"eggNOG": [
"ENOG502RXRC"
],
"GeneTree": [
"ENSGT00390000017226"
],
"HOGENOM": [
"CLU_110946_0_0_1"
],
"InParanoid": [
"P01588"
],
"OMA": [
"AMEFPRL"
],
"OrthoDB": [
"4338688at2759"
],
"PhylomeDB": [
"P01588"
],
"TreeFam": [
"TF333413"
],
"PathwayCommons": [
"P01588"
],
"Reactome": [
"R-HSA-1234158",
"R-HSA-9006335",
"R-HSA-9027276",
"R-HSA-9027277",
"R-HSA-9027283",
"R-HSA-9027284"
],
"SignaLink": [
"P01588"
],
"SIGNOR": [
"P01588"
],
"BioGRID-ORCS": [
"2056"
],
"EvolutionaryTrace": [
"P01588"
],
"GeneWiki": [
"Erythropoietin"
],
"GenomeRNAi": [
"2056"
],
"Pharos": [
"P01588"
],
"PRO": [
"PR:P01588"
],
"Proteomes": [
"UP000005640"
],
"RNAct": [
"P01588"
],
"Bgee": [
"ENSG00000130427"
],
"ExpressionAtlas": [
"P01588"
],
"GO": [
"GO:0044297",
"GO:0009986",
"GO:0005576",
"GO:0005615",
"GO:0005125",
"GO:0005128",
"GO:0005179",
"GO:0030295",
"GO:0006953",
"GO:0008015",
"GO:0071474",
"GO:0007566",
"GO:0030218",
"GO:0043249",
"GO:0038162",
"GO:0042541",
"GO:0033028",
"GO:0010523",
"GO:2001258",
"GO:1902251",
"GO:1902219",
"GO:0000122",
"GO:0042104",
"GO:0008284",
"GO:0045893",
"GO:0070374",
"GO:0045666",
"GO:0010976",
"GO:0046579",
"GO:0042531",
"GO:0048678",
"GO:0071548",
"GO:0051602",
"GO:0043627",
"GO:0055093",
"GO:0001666",
"GO:0070555",
"GO:0032496",
"GO:0009651",
"GO:0033574",
"GO:0033189",
"GO:0007165"
],
"Gene3D": [
"1.20.1250.10"
],
"InterPro": [
"IPR009079",
"IPR019767",
"IPR001323",
"IPR003013"
],
"PANTHER": [
"PTHR10370",
"PTHR10370:SF0"
],
"Pfam": [
"PF00758"
],
"PIRSF": [
"PIRSF001951"
],
"PRINTS": [
"PR00272"
],
"SUPFAM": [
"SSF47266"
],
"PROSITE": [
"PS00817"
]
},
"citations": [
{
"title": "Isolation and characterization of genomic and cDNA clones of human erythropoietin.",
"pubmedID": "3838366",
"doi": "10.1038\/313806a0"
},
{
"title": "Cloning and expression of the human erythropoietin gene.",
"pubmedID": "3865178",
"doi": "10.1073\/pnas.82.22.7580"
},
{
"title": "Large-scale sequencing of two regions in human chromosome 7q22: analysis of 650 kb of genomic sequence around the EPO and CUTL1 loci reveals 17 genes.",
"pubmedID": "9799793",
"doi": "10.1101\/gr.8.10.1060"
},
{
"title": "The DNA sequence of human chromosome 7.",
"pubmedID": "12853948",
"doi": "10.1038\/nature01782"
},
{
"title": "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).",
"pubmedID": "15489334",
"doi": "10.1101\/gr.2596504"
},
{
"title": "Gene expression of mutant erythropoietin in hepatocellular carcinoma.",
"pubmedID": "8396923",
"doi": "10.1006\/bbrc.1993.2104"
},
{
"title": "Structural characterization of human erythropoietin.",
"pubmedID": "3949763",
"doi": "10.1016\/s0021-9258(17)35756-3"
},
{
"title": "Isolation of human erythropoietin with monoclonal antibodies.",
"pubmedID": "6698989",
"doi": "10.1016\/s0021-9258(17)43202-9"
},
{
"title": "Comparative study of the asparagine-linked sugar chains of human erythropoietins purified from urine and the culture medium of recombinant Chinese hamster ovary cells.",
"pubmedID": "3346214",
"doi": "10.1016\/s0021-9258(18)68975-6"
},
{
"title": "Site-specific glycosylation of human recombinant erythropoietin: analysis of glycopeptides or peptides at each glycosylation site by fast atom bombardment mass spectrometry.",
"pubmedID": "3219367",
"doi": "10.1021\/bi00423a017"
},
{
"title": "Structures and functional roles of the sugar chains of human erythropoietins.",
"pubmedID": "1820196",
"doi": "10.1093\/glycob\/1.4.337"
},
{
"title": "Sugar profiling proves that human serum erythropoietin differs from recombinant human erythropoietin.",
"pubmedID": "11739166",
"doi": "10.1182\/blood.v98.13.3626"
},
{
"title": "The endoplasmic reticulum cargo receptor SURF4 facilitates efficient erythropoietin secretion.",
"pubmedID": "32989016",
"doi": "10.1128\/mcb.00180-20"
},
{
"title": "A Gain-of-function mutation in EPO in familial erythrocytosis.",
"pubmedID": "29514032",
"doi": "10.1056\/nejmoa1709064"
},
{
"title": "Efficiency of signalling through cytokine receptors depends critically on receptor orientation.",
"pubmedID": "9774108",
"doi": "10.1038\/26773"
},
{
"title": "NMR structure of human erythropoietin and a comparison with its receptor bound conformation.",
"pubmedID": "9783743",
"doi": "10.1038\/2302"
},
{
"title": "Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications.",
"pubmedID": "18458324",
"doi": "10.1073\/pnas.0800454105"
},
{
"title": "Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.",
"pubmedID": "27651169",
"doi": "10.3324\/haematol.2016.144063"
},
{
"title": "Functional selectivity in cytokine signaling revealed through a pathogenic EPO mutation.",
"pubmedID": "28283061",
"doi": "10.1016\/j.cell.2017.02.026"
}
],
"sequence": {
"length": 193,
"mass": 21307,
"checksum": "C91F0E4C26A52033",
"modified": {
"$date": {
"$numberLong": "522288000000"
}
},
"version": 1,
"sequence": "MGVHECPAWLWLLLSLLSLPLGLPVLGAPPRLICDSRVLERYLLEAKEAENITTGCAEHCSLNENITVPDTKVNFYAWKRMEVGQQAVEVWQGLALLSEAVLRGQALLVNSSQPWEPLQLHVDKAVSGLRSLTTLLRALGAQKEAISPPDAASAAPLRTITADTFRKLFRVYSNFLRGKLKLYTGEACRTGDR"
},
"existence": 0,
"relevance": 1,
"proteinID": 2759517898
}
],
"singleCellExpressions": {
"cellSignificanceIndex": []
}
}