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EGLN3 (egl-9 family hypoxia inducible factor 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
112399
Gene nameGene Name - the full gene name approved by the HGNC.
Egl-9 family hypoxia inducible factor 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EGLN3
SynonymsGene synonyms aliases
HIFP4H3, HIFPH3, PHD3
ChromosomeChromosome number
14
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.1
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003110 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT003110 hsa-miR-122-5p Luciferase reporter assay, qRT-PCR 19296470
MIRT006289 hsa-miR-20a-5p Luciferase reporter assay, Western blot 22182733
MIRT006289 hsa-miR-20a-5p Luciferase reporter assay, Western blot 22182733
MIRT006289 hsa-miR-20a-5p Luciferase reporter assay, Western blot 22182733
Transcription factors
Transcription factor Regulation Reference
HIF1A Unknown 15156561
STAT6 Unknown 18342537
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IEP 20978507
GO:0005515 Function Protein binding IPI 15721254, 16511565, 17353276, 19584355, 20849813, 21575608, 21620138, 21988832, 22286099, 25416956, 26972000, 31515488, 32296183
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 12615973
GO:0005654 Component Nucleoplasm TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
MPLGHIMRLDLEKIALEYIVPCLHEVGFCYLDNFLGEVVGDCVLERVKQLHCTGALRDGQ
LAGPRAGVSKRHLRGDQITWIGGNEEGCEAISFLLSLIDRLVLYCGSRLGKYYVKERSKA
MVACYPGNGTGYVRHVDNPNGDGRCITCIYYLNKNWDAKLHGGILRIFPEGKSFIADVEP
IFDRLLFFWSDRRNPHEVQPSYATRYAMTVWYF
DAEERAEAKKKFRNLTRKTESALTED
Sequence length 239
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  HIF-1 signaling pathway
Pathways in cancer
Renal cell carcinoma
  Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 27903959
Unknown
Disease name Disease term dbSNP ID References
Liver neoplasms Liver neoplasms 28108177
Liver cancer Malignant neoplasm of liver 28108177

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