EGLN1 Chromosome 1
Egl-9 family hypoxia inducible factor 1
Upload your DNA to see your personal genotypes for variants in EGLN1.
What This Gene Does
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, Nov 2009]
Gene Info
Gene Group
Zinc fingers MYND-type
Locus Type
gene with protein product
Location
1q42.2
Ensembl
ENSG00000135766
Associated Conditions (6)
Erythrocytosis
familial
3
Hemoglobin
high altitude adaptation
Clear cell carcinoma of kidney
Key Variants
RS113401862
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1191056306
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1198122970
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1200077945
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1258825907
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1301849220
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1302770820
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1348057473
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1408448213
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS147839743
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS1487874168
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
RS200502960
Conflicting classifications of pathogenicity
Erythrocytosis, familial, 3
Health Risk
All Variants (49)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113401862 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1191056306 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1198122970 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1200077945 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1258825907 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1301849220 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1302770820 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1348057473 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1408448213 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS147839743 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1487874168 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS200502960 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS201365992 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS2527360102 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS2527360670 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS371536347 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS374733352 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS374893731 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS376001204 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS376247953 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS531081279 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS551207815 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS560996946 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS563998083 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS748272071 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS748926816 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS753505082 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS756094298 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS758337994 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS763045676 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS763596301 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS767045832 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS767916069 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS768557500 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS771498926 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS772111647 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS776333127 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS777466821 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS796280222 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS80358193 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS886046110 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS891489163 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS992728216 | Health Risk | Conflicting classifications of pathogenicity | Erythrocytosis, familial, 3 |
| RS1018129986 | Health Risk | Pathogenic | Erythrocytosis, familial, 3 |
| RS119476044 | Health Risk | Pathogenic | Erythrocytosis, familial, 3 |
| RS119476045 | Health Risk | Pathogenic | Erythrocytosis, familial, 3 |
| RS1656591590 | Health Risk | Pathogenic | Erythrocytosis, familial, 3 |
| RS2102898170 | Health Risk | Pathogenic | Erythrocytosis, familial, 3 |
| RS2527358629 | Health Risk | Pathogenic | Erythrocytosis, familial, 3 |