Entity Details

Primary name EGLN1
Entity type gene
Source Source Link

Details

PrimaryID54583
RefseqGeneNG_015865
SymbolEGLN1
Nameegl-9 family hypoxia inducible factor 1
Chromosome1
Location1q42.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEGLN1_HUMAN

GO terms

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GOName
GO:0001666 response to hypoxia
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0008198 ferrous iron binding
GO:0016706 2-oxoglutarate-dependent dioxygenase activity
GO:0018401 peptidyl-proline hydroxylation to 4-hydroxy-L-proline
GO:0019899 enzyme binding
GO:0031418 L-ascorbic acid binding
GO:0031543 peptidyl-proline dioxygenase activity
GO:0031545 peptidyl-proline 4-dioxygenase activity
GO:0032364 oxygen homeostasis
GO:0043433 negative regulation of DNA-binding transcription factor activity
GO:0045765 regulation of angiogenesis
GO:0051344 negative regulation of cyclic-nucleotide phosphodiesterase activity
GO:0061418 regulation of transcription from RNA polymerase II promoter in response to hypoxia
GO:0071456 cellular response to hypoxia
GO:0071731 response to nitric oxide

Diseases

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Disease IDSourceNameDescription
609820 OMIMErythrocytosis, familial, 3 (ECYT3)An autosomal dominant disorder characterized by elevated serum hemoglobin and hematocrit, and normal serum erythropoietin levels. The disease is caused by variants affecting the gene represented in this entry.

Interactions

59 interactions

InteractorPartnerSourcesPublicationsLink
EGLN1HIF1ABioGRID, DIP, HPRD, IntAct, MINT15474027 15721254 16155211 16407130 16511565 17069766 17353276 17442832 18063574 18264140 19604478 20724477 20840591 22946054 23413029 24681946 25361009 25974097 26611735 27563096 29279301 31763849 details
EGLN1OS9BioGRID, HPRD, IntAct15721254 21559462 details
EGLN1VHLBioGRID, IntAct17986458 22286099 26215701 details
EGLN1KRASBioGRID, IntAct21988832 details
EGLN1ZNF281BioGRID, IntAct21988832 details
EGLN1FKBP8BioGRID, IntAct17353276 19147576 19546213 21559462 23413029 24711448 27770548 31763849 32877691 details
EGLN1EPAS1BioGRID, HPRD, IntAct15474027 16407130 17353276 19147576 19208626 23275444 30487161 31763849 details
EGLN1SDCBPMINT26787460 details
EGLN1ING4BioGRID, HPRD15897452 17848618 details
EGLN1H3C1BioGRID19624289 details
EGLN1SRCBioGRID21335603 details
EGLN1MAGEA11BioGRID19147576 details
EGLN1PLD1BioGRID25361009 details
EGLN1HSP90AA1BioGRID23413029 24711448 details
EGLN1HSP90AB1BioGRID23413029 24711448 31763849 details
EGLN1SH3KBP1BioGRID31142511 details
EGLN1PKMBioGRID, IntAct21620138 details
EGLN1POLR2ABioGRID18285459 details
EGLN1OSR1BioGRID15084514 16511565 details
EGLN1SIAH2BioGRID15210114 16958618 details
EGLN1EGLN1BioGRID16958618 details
EGLN1EGLN3BioGRID16958618 31763849 details
EGLN1SPRY2BioGRID22006925 details
EGLN1LIMD1BioGRID22286099 26215701 details
EGLN1MAGEA9BioGRID19147576 details
EGLN1PLD2BioGRID26611735 details
EGLN1GPLD1BioGRID26680696 details
EGLN1RHOBTB3BioGRID26215701 details
EGLN1PTGES3BioGRID23413029 24711448 31763849 details
EGLN1FKBP4BioGRID23413029 details
EGLN1AKT1BioGRID27563096 details
EGLN1AKT2BioGRID27563096 details
EGLN1CBFA2T3BioGRID25974097 details
EGLN1RUNX3BioGRID23542169 details
EGLN1KEAP1BioGRID31763849 details
EGLN1BRD4BioGRID31239290 details
EGLN1TET2BioGRID32963106 details
EGLN1TET3BioGRID32963106 details
EGLN1HIF3AHPRD15474027 details
EGLN1FKBP5BioGRID, IntAct25036637 31763849 details
EGLN1JUNMINT25609649 details
EGLN1MKS1BioGRID, IntAct26638075 details
EGLN1CBWD1BioGRID, IntAct26186194 28514442 details
EGLN1EEF1AKMT1BioGRID, IntAct28514442 details
EGLN1CANXBioGRID, IntAct29568061 details
EGLN1EZRBioGRID, IntAct29568061 details
EGLN1ERP29BioGRID, IntAct30021884 details
EGLN1RFPL4BBioGRID26186194 details
EGLN1PEX19BioGRID26186194 details
EGLN1SNUPNBioGRID26186194 details
EGLN1CBWD2BioGRID26186194 details
EGLN1PLEKHA4BioGRID31091453 details
EGLN1RMDN3BioGRID32877691 details
EGLN1ARNTBioGRID31763849 details
EGLN1CUL3BioGRID31763849 details
EGLN1AKAP1BioGRID34079125 details
EGLN1LCKBioGRID34079125 details
EGLN1POLR2CBioGRID34079125 details
EGLN1TUBA4ABioGRID34079125 details