| URN | urn:agi-llid:54583 |
|---|---|
| Connectivity | 72 |
| Name | Egln1 |
| Description | egl nine homolog 1 (C. elegans) |
| Notes | The protein encoded by this gene catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. HIF is a transcriptional complex that plays a central role in mammalian oxygen homeostasis. This protein functions as a cellular oxygen sensor, and under normal oxygen concentration, modification by prolyl hydroxylation is a key regulatory event that targets HIF subunits for proteasomal destruction via the von Hippel-Lindau ubiquitylation complex. Mutations in this gene are associated with erythrocytosis familial type 3 (ECYT3). [provided by RefSeq] |
| Pathway | hypoxia inducible factor pathway |
|---|
| GO Molecular Function | L-ascorbic acid binding |
|---|---|
| metal ion binding | |
| zinc ion binding | |
| iron ion binding | |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | |
| peptidyl-proline dioxygenase activity |
| GO Cellular Component | cytosol |
|---|
| GO Biological Process | oxidation reduction |
|---|---|
| labyrinthine layer development | |
| heart trabecula formation | |
| ventricular septum morphogenesis | |
| cardiac muscle tissue morphogenesis | |
| negative regulation of transcription factor activity | |
| response to hypoxia | |
| oxygen homeostasis |
| Group | oxidation reduction |
|---|---|
| labyrinthine layer development | |
| heart trabecula formation | |
| ventricular septum morphogenesis | |
| cardiac muscle tissue morphogenesis | |
| negative regulation of transcription factor activity | |
| response to hypoxia | |
| oxygen homeostasis | |
| L-ascorbic acid binding | |
| metal ion binding | |
| zinc ion binding | |
| iron ion binding | |
| oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen | |
| oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen | |
| peptidyl-proline dioxygenase activity | |
| cytosol |
| MedScan ID | 54583 |
|---|
| Hugo ID | 1232 |
|---|
| Human chromosome position | 1q42.1 |
|---|
| LocusLink ID | 54583 |
|---|---|
| 308913 |
| Alias | HPH2 |
|---|---|
| PHD2 | |
| SM20 | |
| ECYT3 | |
| HIFPH2 | |
| ZMYND6 | |
| C1orf12 | |
| DKFZp761F179 | |
| egl nine homolog 1 | |
| HPH-2 | |
| HIF-PH2 | |
| egl nine-like protein 1 | |
| HIF prolyl hydroxylase 2 | |
| HIF-prolyl hydroxylase 2 | |
| zinc finger MYND domain-containing protein 6 | |
| hypoxia-inducible factor prolyl hydroxylase 2 | |
| prolyl hydroxylase domain-containing protein 2 | |
| PHD-2 | |
| chromosome 1 open reading frame 12 | |
| EGL nine (C.elegans) homolog 1 | |
| EGL nine (C.elegans) homolog I | |
| EGL nine homolog 1 (C. elegans) | |
| egl nine homolog I | |
| Egln I | |
| EGLN1 | |
| LOC113811 |
| Organism | Homo sapiens |
|---|---|
| Rattus norvegicus |
| OMIM ID | 606425 |
|---|---|
| 609820 |
| GO ID | 0031418 |
|---|---|
| 0005506 | |
| 0046872 | |
| 0016705 | |
| 0016702 | |
| 0031543 | |
| 0008270 | |
| 0055008 | |
| 0060347 | |
| 0060711 | |
| 0043433 | |
| 0055114 | |
| 0032364 | |
| 0001666 | |
| 0060412 | |
| 0005829 |
| Rat chromosome position | 19q12 |
|---|
| Swiss-Prot Accession | Q9GZT9 |
|---|---|
| Q9NTU9 | |
| P59722 | |
| Q642G6 | |
| Q8N3M8 | |
| Q9BZS8 | |
| Q9BZT0 |
| Unigene ID | Hs.444450 |
|---|---|
| Hs.710300 | |
| Rn.44718 | |
| Rn.222294 |
| KEGG ID | hsa:54583 |
|---|---|
| rno:308913 |
| EC Number | 1.14.11.- |
|---|
| Swiss-Prot ID | EGLN1_HUMAN |
|---|---|
| EGLN1_RAT | |
| Q642G6_RAT |
| IPI ID | IPI00004928 |
|---|---|
| IPI00328822 | |
| IPI00285790 |
| Homologene ID | 56936 |
|---|
| RGD ID | 631375 |
|---|