Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | EGLN1 |
| Gene Name: | EGLN1 |
| Protein Full Name: | Egl nine homolog 1 |
| Alias: | EC 1.14.11.-; EGL nine (C.elegans) homologue 1; HIFPH2; HIF-PH2; HIF-prolyl hydroxylase 2; HPH-2; Hypoxia-inducible factor prolyl hydroxylase 2; PHD2; ZMYND6 |
| Mass (Da): | 46021 |
| Number AA: | 426 |
| UniProt ID: | Q9GZT9 |
| Locus ID: | 54583 |
| COSMIC ID: | EGLN1 |
| Gene location on chromosome: | 1q42.2 |
| Cancer protein type: | UNCLEAR |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | UNCLEAR |
| Number of cancer specimens: | 19717 |
| Percent of cancer specimens with mutations: | 0.27 |
| Mutations observed as inherited: | Defects in EGLN1 are the cause of erythrocytosis familial type 3 |
| Normal role description: | Implicated in the hypoxia-inducible-factor (HIF) pathway. Expression levels shown to be upregulated in head and neck cancer but unclear whether this is driving or a reaction to oncogenesis. |