ENSG00000130427


Homo sapiens

Features
Gene ID: ENSG00000130427
  
Biological name :EPO
  
Synonyms : EPO / erythropoietin / P01588
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q22.1
Gene start: 100720800
Gene end: 100723700
  
Corresponding Affymetrix probe sets: 207257_at (Human Genome U133 Plus 2.0 Array)   217254_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000252723
NCBI entrez gene - 2056     See in Manteia.
OMIM - 133170
RefSeq - NM_000799
RefSeq Peptide - NP_000790
swissprot - G9JKG7
swissprot - P01588
Ensembl - ENSG00000130427
  
Related genetic diseases (OMIM): 612623 - {Microvascular complications of diabetes 2}, 612623
  617907 - Erythrocytosis, familial, 5, 617907
  617911 - ?Diamond-Blackfan anemia-like, 617911
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 epoaENSDARG00000055163Danio rerio
 epobENSDARG00000100737Danio rerio
 EpoENSMUSG00000029711Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR001323  Erythropoietin/thrombopoeitin
 IPR003013  Erythropoietin
 IPR009079  Four-helical cytokine-like, core
 IPR019767  Erythropoietin/thrombopoeitin, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IMP
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006915 apoptotic process IEA
 biological_processGO:0006953 acute-phase response IEA
 biological_processGO:0007165 signal transduction NAS
 biological_processGO:0007566 embryo implantation IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008015 blood circulation NAS
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0009651 response to salt stress IEA
 biological_processGO:0010469 regulation of signaling receptor activity IEA
 biological_processGO:0010523 negative regulation of calcium ion transport into cytosol IDA
 biological_processGO:0010976 positive regulation of neuron projection development IEA
 biological_processGO:0018105 peptidyl-serine phosphorylation IEA
 biological_processGO:0030218 erythrocyte differentiation IDA
 biological_processGO:0032147 activation of protein kinase activity IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0033033 negative regulation of myeloid cell apoptotic process IEA
 biological_processGO:0033189 response to vitamin A IEA
 biological_processGO:0033574 response to testosterone IEA
 biological_processGO:0038162 erythropoietin-mediated signaling pathway IMP
 biological_processGO:0042104 positive regulation of activated T cell proliferation IEA
 biological_processGO:0042531 positive regulation of tyrosine phosphorylation of STAT protein IDA
 biological_processGO:0042541 hemoglobin biosynthetic process IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043249 erythrocyte maturation IEA
 biological_processGO:0043627 response to estrogen IEA
 biological_processGO:0045666 positive regulation of neuron differentiation IEA
 biological_processGO:0045740 positive regulation of DNA replication IDA
 biological_processGO:0045860 positive regulation of protein kinase activity IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0046579 positive regulation of Ras protein signal transduction IDA
 biological_processGO:0048678 response to axon injury IEA
 biological_processGO:0051602 response to electrical stimulus IEA
 biological_processGO:0055093 response to hyperoxia IEA
 biological_processGO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0070555 response to interleukin-1 IEA
 biological_processGO:0071474 cellular hyperosmotic response IDA
 biological_processGO:0071548 response to dexamethasone IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1902219 negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress IDA
 biological_processGO:1902251 negative regulation of erythrocyte apoptotic process IDA
 biological_processGO:2001258 negative regulation of cation channel activity IDA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0005125 cytokine activity IDA
 molecular_functionGO:0005128 erythropoietin receptor binding IMP
 molecular_functionGO:0005179 hormone activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030295 protein kinase activator activity IEA


Pathways (from Reactome)
Pathway description
Regulation of gene expression by Hypoxia-inducible Factor


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000187266 EPOR / P19235 / erythropoietin receptor  / reaction / complex
 ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1  / complex / reaction
 ENSG00000109458 GAB1 / Q13480 / GRB2 associated binding protein 1  / complex / reaction
 ENSG00000173757 P51692 / STAT5B / signal transducer and activator of transcription 5B  / complex / reaction
 ENSG00000141968 VAV1 / P15498 / vav guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2  / complex / reaction
 ENSG00000099942 CRKL / P46109 / CRK like proto-oncogene, adaptor protein  / complex / reaction
 ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2  / complex / reaction
 ENSG00000126561 P42229 / STAT5A / signal transducer and activator of transcription 5A  / complex / reaction
 ENSG00000107263 Q13905 / RAPGEF1 / Rap guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000185950 IRS2 / Q9Y4H2 / insulin receptor substrate 2  / complex / reaction
 ENSG00000096968 JAK2 / O60674 / Janus kinase 2  / complex / reaction
 ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000121879 P42336 / PIK3CA / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha  / complex / reaction
 ENSG00000141506 PIK3R5 / Q8WYR1 / phosphoinositide-3-kinase regulatory subunit 5  / complex / reaction
 ENSG00000051382 P42338 / PIK3CB / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta  / complex / reaction
 ENSG00000145675 P27986 / PIK3R1 / phosphoinositide-3-kinase regulatory subunit 1  / complex / reaction
 ENSG00000105851 P48736 / PIK3CG / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma  / complex / reaction
 ENSG00000171608 O00329 / PIK3CD / phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta  / complex / reaction
 ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1  / complex / reaction






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr