EGLN1 egl nine homolog 1 (C. elegans) [Homo sapiens] - Gene

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Summary

Official Symbol: EGLN1provided by HGNC
Official Full Name: egl nine homolog 1 (C. elegans)provided by HGNC
Primary source: HGNC:1232
Locus tag: PNAS-118
See related: Ensembl:ENSG00000135766; HPRD:06971; MIM:606425; Vega:OTTHUMG00000038027
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HPH2; PHD2; SM20; ECYT3; HPH-2; HIFPH2; ZMYND6; C1orf12; HIF-PH2
Summary: 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]

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Genomic context

Location :: 1q42.1

Sequence :: Chromosome: 1; NC_000001.10 (231499497..231560790, complement)

See EGLN1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 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?

The reaction of PHD2 with nitric oxide (NO) is potentially complex, consistent with proposals based on cellular studies that NO may regulate the hypoxic response by direct reaction with hypoxia-inducible factor (HIF) hydroxylases.
Title: Studies on the reaction of nitric oxide with the hypoxia-inducible factor prolyl hydroxylase domain 2 (EGLN1).
Data suggest that PHD2/HIF-2/amphiregulin signaling has a critical role in the regulation of breast tumor progression and propose PHD2 as a potential tumor suppressor in breast cancer.
Title: Prolyl-4-hydroxylase PHD2- and hypoxia-inducible factor 2-dependent regulation of amphiregulin contributes to breast tumorigenesis.
The oncometabolite 2-hydroxyglutarate is a competitive inhibitor of multiple alpha-ketoglutarate-dependent dioxygenases, including histone demethylases, prolyl hydroxylases, and the TET family of 5-methlycytosine hydroxylases.
Title: Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases.
Elevated PHD1 concomitant with decreased PHD2 are causatively related to Rpb1 hydroxylation and oncogenesis in human renal clear cell carcinomas with WT VHL gene.
Title: von Hippel-Lindau-dependent patterns of RNA polymerase II hydroxylation in human renal clear cell carcinomas.
Methylation-induced epigenetic silencing of PHD1, PHD2, PHD3 and FIH is unlikely to underlie up-regulated HIF-1alpha expression in human breast cancer but may play a role in other tumour types.
Title: DNA methylation analysis of the HIF-1α prolyl hydroxylase domain genes PHD1, PHD2, PHD3 and the factor inhibiting HIF gene FIH in invasive breast carcinomas.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Genetic variations in Tibetan populations and high-altitude adaptation at the Himalayas.
Observational study and genome-wide association study of genotype prevalence. (HuGE Navigator)
Title: A genome-wide search for signals of high-altitude adaptation in Tibetans.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.
EGLN1 polymorphisms are associated with high-altitude adaptation
Title: EGLN1 involvement in high-altitude adaptation revealed through genetic analysis of extreme constitution types defined in Ayurveda.
PHD2 affects cell migration and F-actin formation via RhoA/rho-associated kinase-dependent cofilin phosphorylation
Title: Prolyl hydroxylase domain (PHD) 2 affects cell migration and F-actin formation via RhoA/rho-associated kinase-dependent cofilin phosphorylation.

Submit: New GeneRIF Correction See all (48)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
NP_071334.1	NP_001521.1	HIF1A	BIND	PubMed	HIF-1 alpha interacts with PHD2.
NP_071334.1	NP_006803.1	OS9	BIND	PubMed	OS-9 interacts with PHD2.
Q9GZT9	Q99814	EPAS1	HPRD	PubMed
Q9GZT9	Q16665	HIF1A	HPRD	PubMed
Q9GZT9	Hypoxia inducible factor 3 alpha subunit	HIF3A	HPRD	PubMed
Q9GZT9	Q9UNL4	ING4	HPRD	PubMed
Q9GZT9	Q13438	OS9	HPRD	PubMed
BioGRID:120060	BioGRID:120060	EGLN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120060	BioGRID:125185	EGLN3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120060	BioGRID:108348	EPAS1	BioGRID	PubMed	Reconstituted Complex
BioGRID:120060	BioGRID:109338	HIF1A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:120060	BioGRID:113946	HIST1H3A	BioGRID	PubMed	Co-crystal Structure; Reconstituted Complex
BioGRID:120060	BioGRID:119331	ING4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:120060	BioGRID:116156	OS9	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120060	BioGRID:126234	OSR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120060	BioGRID:111426	POLR2A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120060	BioGRID:112373	SIAH2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:120060	BioGRID:115547	SPRY2	BioGRID	PubMed	Affinity Capture-Western

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 single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA Inferred from Electronic Annotation more info
peptidyl-proline dioxygenase activity	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
heart trabecula formation	IEA Inferred from Electronic Annotation more info
labyrinthine layer development	IEA Inferred from Electronic Annotation more info
negative regulation of sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
oxygen homeostasis	IDA Inferred from Direct Assay more info	PubMed
regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
response to nitric oxide	IDA Inferred from Direct Assay more info
ventricular septum morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: egl nine homolog 1

Names: egl nine homolog 1; egl nine-like protein 1; HIF prolyl hydroxylase 2; HIF-prolyl hydroxylase 2; zinc finger MYND domain-containing protein 6; hypoxia-inducible factor prolyl hydroxylase 2; prolyl hydroxylase domain-containing protein 2

NP_071334.1

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.

Genomic

NG_015865.1 RefSeqGene

Range

5001..66294

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022051.2 → NP_071334.1 egl nine homolog 1

Status: REVIEWED

Source sequence(s)

AF229245, AI017372, AL117352

Consensus CDS

CCDS1595.1

UniProtKB/Swiss-Prot

Q9GZT9

Related

ENSP00000355601, OTTHUMP00000036152, ENST00000366641, OTTHUMT00000092879

Conserved Domains (3) summary

smart00702
Location:220 – 391
Blast Score: 320

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues.

pfam01753
Location:21 – 58
Blast Score: 82

zf-MYND; MYND finger

cl15773
Location:298 – 391
Blast Score: 190

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_000001.10 Reference GRCh37.p5 Primary Assembly

Range

231499497..231560790, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

201982787..202043989, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF246630.1	AAG34568.1
genomic	AF246631.1	AAG34568.1
genomic	AL117352.12	CAI23092.1
genomic	AL445524.28	CAH72105.1
genomic	CH471098.1	EAW69959.1
genomic	CS681768.1	CAP11376.1
mRNA	AF229245.1	AAG33965.1
mRNA	AF277174.1	AAK07534.1
mRNA	AF277176.1	AAK07536.1
mRNA	AF334711.1	None
mRNA	AI017372.1	None
mRNA	AJ227859.1	None
mRNA	AJ310543.1	CAC42509.1
mRNA	AL833885.1	CAD38741.2
mRNA	BC005369.1	AAH05369.1
mRNA	DQ975380.1	ABM44413.1