EGLN3 egl nine homolog 3 (C. elegans) [Homo sapiens] - Gene

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Summary

Official Symbol: EGLN3provided by HGNC
Official Full Name: egl nine homolog 3 (C. elegans)provided by HGNC
Primary source: HGNC:14661
See related: Ensembl:ENSG00000129521; HPRD:06972; MIM:606426; Vega:OTTHUMG00000029498
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PHD3; HIFPH3; HIFP4H3; FLJ21620; MGC125998; MGC125999

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Genomic context

Location :: 14q13.1

Sequence :: Chromosome: 14; NC_000014.8 (34393421..34420284, complement)

See EGLN3 in Epigenomics, MapViewer

Chromosome 14 - NC_000014.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

a block in G1 to S transition in carcinoma cells under PHD3 inhibition
Title: Prolyl hydroxylase PHD3 enhances the hypoxic survival and G1 to S transition of carcinoma cells.
(R)-2HG, but not (S)-2HG, stimulates EGLN activity, leading to diminished HIF levels, which enhances the proliferation and soft agar growth of human astrocytes
Title: Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation.
The expression of PHD genes and their relationship with the tumor behavior and apoptosis-associated factors in non-small cell lung cancer, was investigated.
Title: The expression of prolyl hydroxylase domain enzymes are up-regulated and negatively correlated with Bcl-2 in non-small cell lung cancer.
High tumor cell expression of PHD3 (P= 0.058) and FIH (P= 0.15) did not, however, reach statistical significance
Title: Overexpression of the HIF hydroxylases PHD1, PHD2, PHD3 and FIH are individually and collectively unfavorable prognosticators for NSCLC survival.
The oxygen sensor PHD3 limits glycolysis under hypoxia via direct binding to pyruvate kinase
Title: The oxygen sensor PHD3 limits glycolysis under hypoxia via direct binding to pyruvate kinase.
these results suggest that PHD3 targets Pax2 for destruction.
Title: Prolyl hydroxylase domain protein 3 targets Pax2 for destruction.
Interaction of PKM2 with prolyl hydroxylase 3 (PHD3) enhances PKM2 binding to HIF-1alpha and PKM2 coactivator function; PKM2 participates in a positive feedback loop that promotes HIF-1 transactivation and reprograms glucose metabolism in cancer cells.
Title: Pyruvate kinase M2 is a PHD3-stimulated coactivator for hypoxia-inducible factor 1.
PHD3 expression is silenced by aberrant CpG methylation in a subset of human carcinoma cell lines of diverse origin and this aberrant cytosine methylation status is the mechanism by which these cancer cell lines fail to upregulate PHD3 mRNA
Title: Aberrant promoter CpG methylation is a mechanism for impaired PHD3 expression in a diverse set of malignant cells.
Prolyl hydroxylases (PHD3) regulate the transcriptional activity of HIF-1alpha. This could be potentially inhibited by polynitrogen compounds.
Title: Effects of polynitrogen compounds on the activity of recombinant human HIF-1α prolyl hydroxylase 3 in E. coli.
PHD3 has a role in regulating neutrophil survival in hypoxia
Title: Prolyl hydroxylase 3 (PHD3) is essential for hypoxic regulation of neutrophilic inflammation in humans and mice.

Submit: New GeneRIF Correction See all (33)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_071356.1	NP_001521.1	HIF1A	BIND	PubMed	HIF-1 alpha interacts with PHD3.
NP_071356.1	NP_006803.1	OS9	BIND	PubMed	OS-9 interacts with PHD3.
Q9H6Z9	Q99814	EPAS1	HPRD	PubMed
Q9H6Z9	Q16665	HIF1A	HPRD	PubMed
Q9H6Z9	Hypoxia inducible factor 3 alpha subunit	HIF3A	HPRD	PubMed
Q9H6Z9	Q13438	OS9	HPRD	PubMed
Q9H6Z9	Mitogen-activated protein kinase organizer 1	WDR83	HPRD	PubMed
BioGRID:125185	BioGRID:106663	ADRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:125185	BioGRID:120060	EGLN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125185	BioGRID:125184	EGLN2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125185	BioGRID:125185	EGLN3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125185	BioGRID:109338	HIF1A	BioGRID	PubMed	Reconstituted Complex
BioGRID:125185	BioGRID:201674	Myog	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:125185	BioGRID:116156	OS9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125185	BioGRID:118151	PRPF19	BioGRID	PubMed	Affinity Capture-Western; FRET; Reconstituted Complex
BioGRID:125185	BioGRID:112373	SIAH2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125185	BioGRID:115547	SPRY2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:125185	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
iron ion binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors	IEA Inferred from Electronic Annotation more info
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info

Process	Evidence Code	Pubs
activation of cysteine-type endopeptidase activity involved in apoptotic process	IEP Inferred from Expression Pattern more info
apoptotic process	IEP Inferred from Expression Pattern more info
protein hydroxylation	IDA Inferred from Direct Assay more info	PubMed
regulation of cell proliferation	IEP Inferred from Expression Pattern more info
regulation of neuron apoptosis	ISS Inferred from Sequence or Structural Similarity more info
response to hypoxia	IEP Inferred from Expression Pattern more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: egl nine homolog 3

Names: egl nine homolog 3; HPH-1; HPH-3; HIF-PH3; HIF prolyl hydroxylase 3; HIF-prolyl hydroxylase 3; egl nine-like protein 3 isoform; hypoxia-inducible factor prolyl hydroxylase 3; prolyl hydroxylase domain-containing protein 3

NP_071356.1

EC 1.14.11.29

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022073.3 → NP_071356.1 egl nine homolog 3

Status: VALIDATED

Source sequence(s)

AK025273, AL358340

Consensus CDS

CCDS9646.1

UniProtKB/Swiss-Prot

Q9H6Z9

Related

ENSP00000250457, OTTHUMP00000178814, ENST00000250457, OTTHUMT00000276647

Conserved Domains (2) summary

smart00702
Location:36 – 213
Blast Score: 314

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues.

cl15773
Location:120 – 213
Blast Score: 161

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000014.8 Reference GRCh37.p5 Primary Assembly

Range

34393421..34420284, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000146.1 Alternate HuRef

Range

14510074..14536960, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL358340.6 (42359..43824)	None
genomic	CH471078.2	EAW65929.1
mRNA	AJ310545.1	CAC42511.1
mRNA	AK025273.1	BAB15101.1
mRNA	AK026918.1	None
mRNA	AK123350.1	BAG53892.1
mRNA	AK225473.1	None
mRNA	BC010992.2	AAH10992.3
mRNA	BC064924.1	AAH64924.2
mRNA	BC102030.1	AAI02031.1
mRNA	BC105938.1	AAI05939.1
mRNA	BC105939.1	AAI05940.1
mRNA	BC111057.1	AAI11058.2
mRNA	BG716229.1	None
mRNA	BX346941.2	None
mRNA	BX354108.2	None
mRNA	DQ975379.1	ABM44412.1