AutismKB 2.0

Annotation Details for EGLN1


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Basic Information Top
Gene Symbol:EGLN1 ( C1orf12,DKFZp761F179,ECYT3,HIFPH2,HPH2,PHD2,SM20,ZMYND6 )
Gene Full Name: egl nine homolog 1 (C. elegans)
Band: 1q42.2
Quick LinksEntrez ID:54583; OMIM: 606425; Uniprot ID:EGLN1_HUMAN; ENSEMBL ID: ENSG00000135766; HGNC ID: 1232
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IEA-nucleus-
GO:0005737IDA-cytoplasm12615973
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0005506IEA-iron ion binding-
GO:0005515IPI-protein binding15721254
GO:0016706IDA-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 donors22955912
GO:0019899ISS-enzyme binding-
GO:0031418IEA-L-ascorbic acid binding-
GO:0031543TAS-peptidyl-proline dioxygenase activity16956324
GO:0031545EXP-peptidyl-proline 4-dioxygenase activity12615973
GO:0031545IDA-peptidyl-proline 4-dioxygenase activity11598268
GO ID Evidence Qualifier GO_term References
GO:0001666IDA-response to hypoxia16956324
GO:0006879IEA-cellular iron ion homeostasis-
GO:0018401IDA-peptidyl-proline hydroxylation to 4-hydroxy-L-proline11598268
GO:0030821ISS-negative regulation of cAMP catabolic process-
GO:0032364IDA-oxygen homeostasis16956324
GO:0043433IDA-negative regulation of sequence-specific DNA binding transcription factor activity16956324
GO:0045765ISS-regulation of angiogenesis-
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0051344ISS-negative regulation of cyclic-nucleotide phosphodiesterase activity-
GO:0055008IEA-cardiac muscle tissue morphogenesis-
GO:0055114IEA-oxidation-reduction process-
GO:0060347IEA-heart trabecula formation-
GO:0060412IEA-ventricular septum morphogenesis-
GO:0060711IEA-labyrinthine layer development-
GO:0061418TAS-regulation of transcription from RNA polymerase II promoter in response to hypoxia-
GO:0071731IDA-response to nitric oxide21601578
GO:1901214IEA-regulation of neuron death-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
EGLN1EPAS110834816407130 Reconstituted Complex
EGLN1EPAS112006016407130 Reconstituted Complex
EGLN1HIF1A12006015721254 16407130 18264140 Reconstituted Complex
EGLN1HIF1A10933815721254 16407130 18264140 Reconstituted Complex
EGLN1POLR2A11142618285459 Affinity Capture-Western
EGLN1POLR2A12006018285459 Affinity Capture-Western
EGLN1HIST1H3A12006019624289 Co-crystal Structure; Reconstituted Complex
EGLN1HIST1H3A11394619624289 Co-crystal Structure; Reconstituted Complex
EGLN1OS912006015721254 Affinity Capture-Western
EGLN1OS911615615721254 Affinity Capture-Western
EGLN1ING411933115897452 17848618 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
EGLN1ING412006015897452 17848618 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
OSR1EGLN112623416511565 Affinity Capture-Western
OSR1EGLN112006016511565 Affinity Capture-Western
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AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
EGLN1rs1435167 Gene overview in SZGene
Animal Model Top