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
No data
No data
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
No data
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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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