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Gene: EGLN1 (egl-9 family hypoxia inducible factor 1) Homo sapiens
Symbol: EGLN1
Name: egl-9 family hypoxia inducible factor 1
CRRD ID: 735297
Description: Exhibits ferrous iron binding activity and peptidyl-proline 4-dioxygenase activity. Involved in several processes, including negative regulation of DNA-binding transcription factor activity; oxygen homeostasis; and peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Localizes to cytoplasm. Implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C1orf12; DKFZp761F179; ECYT3; egl nine homolog 1; egl nine-like protein 1; egl-9 family hypoxia-inducible factor 1; HALAH; HIF prolyl hydroxylase 2; HIF-PH2; HIF-prolyl hydroxylase 2; HIFPH2; HPH-2; HPH2; hypoxia-inducible factor prolyl hydroxylase 2; PHD2; prolyl hydroxylase domain-containing protein 2; SM20; zinc finger MYND domain-containing protein 6; ZMYND6
Mus musculus (house mouse) : Egln1 (egl-9 family hypoxia-inducible factor 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Egln1 (egl-9 family hypoxia-inducible factor 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Egln1 (egl-9 family hypoxia inducible factor 1)
Pan paniscus (bonobo/pygmy chimpanzee) : EGLN1 (egl-9 family hypoxia inducible factor 1)
Canis lupus familiaris (dog) : EGLN1 (egl-9 family hypoxia inducible factor 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Egln1 (egl-9 family hypoxia inducible factor 1)
Sus scrofa (pig) : EGLN1 (egl-9 family hypoxia inducible factor 1)
Chlorocebus sabaeus (African green monkey) : EGLN1 (egl-9 family hypoxia inducible factor 1)
Heterocephalus glaber (naked mole-rat) : Egln1 (egl-9 family hypoxia inducible factor 1)
more info ...
Related Pseudogenes: EGLN1P1   SCAND2P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl1231,363,751 - 231,422,287 (-)EnsemblGRCh38hg38GRCh38
GRCh381231,363,756 - 231,422,332 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371231,499,497 - 231,560,790 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361229,568,054 - 229,627,413 (-)NCBINCBI36hg18NCBI36
Build 341227,808,165 - 227,867,525NCBI
Celera1204,764,347 - 204,825,640 (-)NCBI
Cytogenetic Map1q42.2NCBI
HuRef1201,982,787 - 202,043,989 (-)NCBIHuRef
CHM1_11232,773,121 - 232,834,670 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on EGLN1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 735297
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-09-16
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.