| Gene Symbol |
EGLN3
|
| Entrez Gene |
112399
|
| Alt Symbol |
HIFP4H3, HIFPH3, PHD3
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
egl-9 family hypoxia-inducible factor 3
|
| Other Description |
HIF prolyl hydroxylase 3|HIF-PH3|HIF-prolyl hydroxylase 3|HPH-1|HPH-3|egl nine homolog 3|egl nine-like protein 3 isoform|hypoxia-inducible factor prolyl hydroxylase 3|prolyl hydroxylase domain-containing protein 3
|
| Swissprots |
Q3B8N4 Q9H6Z9 Q6P1R2 Q2TA79
|
| Accessions |
EAW65929 Q9H6Z9 AJ310545 CAC42511 AK025273 BAB15101 AK026918 AK123350 BAG53892 AK225473 AK296216 BAG58941 BC010992 AAH10992 BC064924 AAH64924 BC102030 AAI02031 BC105938 AAI05939 BC105939 AAI05940 BC111057 AAI11058 BG716229 BX091357 BX346941 BX354108 CR592368 DQ975379 ABM44412 XM_006720015 XP_006720078 NM_001308103 NP_001295032 NM_022073 NP_071356
|
| Function |
Cellular oxygen sensor that catalyzes, under normoxic conditions, the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates a specific proline found in each of the oxygen-dependent degradation (ODD) domains (N-terminal, NODD, and C-terminal, CODD) of HIF1A. Also hydroxylates HIF2A. Has a preference for the CODD site for both HIF1A and HIF2A. Hydroxylation on the NODD site by EGLN3 appears to require prior hydroxylation on the CODD site. Hydroxylated HIFs are then targeted for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. Under hypoxic conditions, the hydroxylation reaction is attenuated allowing HIFs to escape degradation resulting in their translocation to the nucleus, heterodimerization with HIF1B, and increased expression of hypoxy-inducible genes. EGLN3 is the most important isozyme in limiting physiological activation of HIFs (particularly HIF2A) in hypoxia. Also hydroxylates PKM in hypoxia, limi
|
| Subcellular Location |
Nucleus. Cytoplasm. Note=Colocalizes with WDR83 in the cytoplasm. {ECO:0000250}.
|
| Tissue Specificity |
Widely expressed at low levels. Expressed at higher levels in adult heart (cardiac myocytes, aortic endothelial cells and coronary artery smooth muscle), lung and placenta, and in fetal spleen, heart and skeletal muscle. Also expressed in pancreas. Localized to pancreatic acini and islet cells. {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:12670503, ECO:0000269|PubMed:21575608}.
|
| Top Pathways |
Renal cell carcinoma
|
![Western Blot: PHD3/HIF Prolyl Hydroxylase 3 Overexpression Lysate (Adult Normal) [NBL1-10156] - Left - Empty vector transfected control cell lysate (HEK293 cell lysate); Right - Over-expression Lysate for HIF Prolyl Hydroxylase 3.](http://www.bioprodhub.com/system/product_images/cel_products/5/sub_1/26123_PHD3-HIF-Prolyl-Hydroxylase-3-Overexpression-Lysate-(Adult-Normal)-Western-Blot-NBL1-10156-img0003.jpg)
