EGLN1

EGLN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2G19, 2G1M, 2HBT, 2HBU, 2Y33, 2Y34, 3HQR, 3HQU, 3OUH, 3OUI, 3OUJ, 4BQW, 4BQX, 4BQY, 4JZR, 4KBZ, 4UWD, 5A3U
Identifiers
Aliases	EGLN1, C1orf12, ECYT3, HIF-PH2, HIFPH2, HPH-2, HPH2, PHD2, SM20, ZMYND6, HALAH, egl-9 family hypoxia inducible factor 1
External IDs	OMIM: 606425; MGI: 1932286; HomoloGene: 56936; GeneCards: EGLN1; OMA:EGLN1 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.2 Start 231,363,751 bp[1] End 231,422,287 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8|8 E2 Start 125,635,326 bp[2] End 125,676,063 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle Achilles tendon muscle of thigh ventricular zone islet of Langerhans body of pancreas ganglionic eminence right auricle smooth muscle tissue left ventricle Top expressed in myocardium of ventricle digastric muscle cardiac muscle tissue of left ventricle interventricular septum right ventricle extraocular muscle plantaris muscle vastus lateralis muscle triceps brachii muscle extensor digitorum longus muscle More reference expression data BioGPS More reference expression data
Gene ontology Molecular function 2-oxoglutarate-dependent dioxygenase activity iron ion binding L-ascorbic acid binding dioxygenase activity metal ion binding protein binding oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen peptidyl-proline dioxygenase activity enzyme binding oxidoreductase activity peptidyl-proline 4-dioxygenase activity ferrous iron binding Cellular component cytoplasm nucleus cytosol postsynaptic density glutamatergic synapse Biological process response to hypoxia heart trabecula formation ventricular septum morphogenesis labyrinthine layer development response to nitric oxide peptidyl-proline hydroxylation to 4-hydroxy-L-proline cardiac muscle tissue morphogenesis regulation of angiogenesis negative regulation of DNA-binding transcription factor activity regulation of transcription from RNA polymerase II promoter in response to hypoxia negative regulation of cyclic-nucleotide phosphodiesterase activity oxygen homeostasis regulation of neuron death cellular iron ion homeostasis positive regulation of transcription by RNA polymerase II regulation of postsynapse organization regulation of protein catabolic process at postsynapse, modulating synaptic transmission Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 54583 112405 Ensembl ENSG00000135766 ENSMUSG00000031987 UniProt Q9GZT9 Q91YE3 RefSeq (mRNA) NM_022051 NM_001377260 NM_001377261 NM_053207 NM_001363475 RefSeq (protein) NP_071334 NP_444437 NP_001350404 Location (UCSC) Chr 1: 231.36 – 231.42 Mb Chr 8: 125.64 – 125.68 Mb PubMed search [3] [4]
Wikidata
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Hypoxia-inducible factor prolyl hydroxylase 2 (HIF-PH2), or prolyl hydroxylase domain-containing protein 2 (PHD2), is an enzyme encoded by the EGLN1 gene. It is also known as Egl nine homolog 1.^[5][6][7][8] PHD2 is a α-ketoglutarate/2-oxoglutarate-dependent hydroxylase, a superfamily non-haem iron-containing proteins. In humans, PHD2 is one of the three isoforms of hypoxia-inducible factor-proline dioxygenase, which is also known as HIF prolyl-hydroxylase.