Gene Gene information from NCBI Gene database.
Entrez ID 112399
Gene name Egl-9 family hypoxia inducible factor 3
Gene symbol EGLN3
Synonyms (NCBI Gene)
HIFP4H3HIFPH3PHD3
Chromosome 14
Chromosome location 14q13.1
miRNA miRNA information provided by mirtarbase database.
278
miRTarBase ID miRNA Experiments Reference
MIRT003110 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003110 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT006289 hsa-miR-20a-5p Luciferase reporter assayWestern blot 22182733
MIRT006289 hsa-miR-20a-5p Luciferase reporter assayWestern blot 22182733
MIRT006289 hsa-miR-20a-5p Luciferase reporter assayWestern blot 22182733
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
HIF1A Unknown 15156561
STAT6 Unknown 18342537
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 15721254, 16511565, 17353276, 19584355, 20849813, 21575608, 21620138, 21988832, 22286099, 25416956, 26972000, 31515488, 32296183
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 12615973
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606426 14661 ENSG00000129521
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H6Z9
Protein name Prolyl hydroxylase EGLN3 (EC 1.14.11.-) (Egl nine homolog 3) (EC 1.14.11.29) (HPH-1) (Hypoxia-inducible factor prolyl hydroxylase 3) (HIF-PH3) (HIF-prolyl hydroxylase 3) (HPH-3) (Prolyl hydroxylase domain-containing protein 3) (PHD3)
Protein function Prolyl hydroxylase that mediates hydroxylation of proline residues in target proteins, such as PKM, TELO2, ATF4 and HIF1A (PubMed:19584355, PubMed:20978507, PubMed:21483450, PubMed:21575608, PubMed:21620138, PubMed:22797300). Target proteins are
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13640 2OG-FeII_Oxy_3 120 213 2OG-Fe(II) oxygenase superfamily Domain
Tissue specificity 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
Sequence
MPLGHIMRLDLEKIALEYIVPCLHEVGFCYLDNFLGEVVGDCVLERVKQLHCTGALRDGQ
LAGPRAGVSKRHLRGDQITWIGGNEEGCEAISFLLSLIDRLVLYCGSRLGKYYVKERSKA
MVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEP
IFDRLLFFWSDRRNPHEVQPSYATRYAMTVWYF
DAEERAEAKKKFRNLTRKTESALTED
Sequence length 239
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
12
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs45570637 RCV005913098
Clear cell carcinoma of kidney Benign rs45570637 RCV005913099
Colon adenocarcinoma Benign rs45570637 RCV005913096
Colorectal cancer Benign rs45570637 RCV005913100
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36147635, 37842058, 40102484
Adenoma Oxyphilic Associate 33118406
Alopecia Associate 35862273
Altitude Sickness Inhibit 18954447
Breast Neoplasms Associate 21291529, 26372732
Carcinogenesis Associate 33606679
Carcinogenesis Inhibit 37814811
Carcinoma Hepatocellular Associate 24452951, 28099905, 35549979, 36746728
Carcinoma Non Small Cell Lung Associate 25081707
Carcinoma Pancreatic Ductal Associate 25542265