Gene table of EGLN1 : egl-9 family hypoxia inducible factor 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with EGLN1	OMIM link	Number of associated genes	genes
609070	HEMOGLOBIN, HIGH ALTITUDE ADAPTATION	ClinVar, OMIM	link to OMIM	1	EGLN1
PS133100	ERYTHROCYTOSIS, FAMILIAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	6	VHL, EPAS1, JAK2, SH2B3, EPOR, EGLN1

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Cellular response to hypoxia	R-HSA-2262749	8.4
Regulation of Hypoxia-inducible Factor (HIF) by oxygen	R-HSA-1234174	8.4
Cellular responses to stress	R-HSA-2262752	4.56
Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	R-HSA-1234176	8.89

Associated GO terms for Molecular function

GO term	GO ID	GO IC
anion binding	GO:0043168	4.17
L-ascorbic acid binding	GO:0031418	6.69
transition metal ion binding	GO:0046914	2.48
dioxygenase activity	GO:0051213	5.25
cation binding	GO:0043169	1.4
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	GO:0016706	5.95
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	GO:0016705	4.65
carboxylic acid binding	GO:0031406	4.64
enzyme binding	GO:0019899	2.27
ion binding	GO:0043167	1.36
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
vitamin binding	GO:0019842	5.34
iron ion binding	GO:0005506	4.65
metal ion binding	GO:0046872	1.41
peptidyl-proline dioxygenase activity	GO:0031543	7.25
peptidyl-proline 4-dioxygenase activity	GO:0031545	7.66
oxidoreductase activity	GO:0016491	3.12