| Gene Information | |
|---|---|
| Gene Name | PNAS-137 |
| Organism | Homo sapiens (Human) |
| Gene Length | 426 |
| Protein Names | Egl nine homolog 1 (EC 1.14.11.29) (Hypoxia-inducible factor prolyl hydroxylase 2) (HIF-PH2) (HIF-prolyl hydroxylase 2) (HPH-2) (Prolyl hydroxylase domain-containing protein 2) (PHD2) (SM-20) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | Q9GZT9 |
| Gene Card | EGLN1 |
| Uniprot ID | Q9GZT9 |
| Pfam | PF13640; PF01753 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | According to PubMed:11056053, widely expressed with highest levels in skeletal muscle and heart, moderate levels in pancreas, brain (dopaminergic neurons of adult and fetal substantia nigra) and kidney, and lower levels in lung and liver. According to PubMed:12351678 widely expressed with highest levels in brain, kidney and adrenal gland. Expressed in cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle. According to PubMed:12788921; expressed in adult and fetal heart, brain, liver, lung, skeletal muscle and kidney. Also expressed in placenta. Highest levels in adult heart, brain, lung and liver and fetal brain, heart spleen and skeletal muscle. {ECO:0000269|PubMed:11056053, ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:12351678, ECO:0000269|PubMed:12670503, ECO:0000269|PubMed:12788921}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2G19 (X-ray 1.70A ) 2G1M (X-ray 2.20A ) 2HBT (X-ray 1.60A ) 2HBU (X-ray 1.85A ) 2Y33 (X-ray 2.00A ) 2Y34 (X-ray 2.01A ) 3HQR (X-ray 2.00A ) 3HQU (X-ray 2.30A ) 3OUH (X-ray 2.51A ) 3OUI (X-ray 1.70A ) 3OUJ (X-ray 2.30A ) 4BQW (X-ray 1.79A ) 4BQX (X-ray 1.79A ) 4BQY (X-ray 1.53A ) 4JZR (X-ray 2.10A ) 4KBZ (X-ray 2.15A ) 4UWD (X-ray 1.72A ) 5A3U (X-ray 3.30A ) 5L9B (X-ray 1.95A ) 5L9R (X-ray 1.81A ) 5L9V (X-ray 1.83A ) 5LA9 (X-ray 2.81A ) 5LAS (X-ray 2.10A ) 5LAT (X-ray 1.90A ) 5LB6 (X-ray 1.70A ) 5LBB (X-ray 1.70A ) 5LBC (X-ray 1.82A ) 5LBE (X-ray 1.75A ) 5LBF (X-ray 1.90A ) 5OX5 (X-ray 2.25A ) 5OX6 (X-ray 1.99A ) 5V18 (X-ray 2.15A ) 6NMQ (X-ray 1.58A ) 6QGV (X-ray 1.40A ) 6ST3 (X-ray 2.43A ) 6YVT (X-ray 2.85A ) 6YVW (X-ray 1.97A ) 6YVX (X-ray 1.80A ) 6YVZ (X-ray 1.91A ) 6YW0 (X-ray 2.20A ) 6YW1 (X-ray 1.46A ) 6YW2 (X-ray 2.14A ) 6YW3 (X-ray 2.28A ) 6YW4 (X-ray 1.53A ) 6ZBN (X-ray 2.01A ) 6ZBO (X-ray 1.79A ) 7UMP (X-ray 1.80A ) |
| DBSNP | rs186996510 rs12097901 rs80358193 rs119476044 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:12615973, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}. Nucleus {ECO:0000269|PubMed:12615973, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}. Note=Mainly cytoplasmic. Shuttles between the nucleus and cytoplasm (PubMed:19631610). Nuclear export requires functional XPO1. {ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}. |
| Mouse PG classification | NA |
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