EGLN1 egl-9 family hypoxia inducible factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EGLN1provided by HGNC
Official Full Name: egl-9 family hypoxia inducible factor 1provided by HGNC
Primary source: HGNC:HGNC:1232
See related: Ensembl:ENSG00000135766 MIM:606425; AllianceGenome:HGNC:1232
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; HALAH; 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]
Expression: Ubiquitous expression in kidney (RPKM 11.5), brain (RPKM 11.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (231363756..231422287, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (230746985..230805510, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (231499502..231558033, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adipocyte deletion of the oxygen-sensor PHD2 sustains elevated energy expenditure at thermoneutrality.
Title: Adipocyte deletion of the oxygen-sensor PHD2 sustains elevated energy expenditure at thermoneutrality.
Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and PHD3/EGLN3 are associated with poor recurrence-free survival in clear cell renal cell carcinoma.
Title: Low nuclear expression of HIF-hydroxylases PHD2/EGLN1 and PHD3/EGLN3 are associated with poor recurrence-free survival in clear cell renal cell carcinoma.
A Case-Control Study of the Associations between EGLN1 Gene Polymorphisms and COPD.
Title: A Case-Control Study of the Associations between EGLN1 Gene Polymorphisms and COPD.
Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding.
Title: Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding.
Prolyl hydroxylase 2 inhibits glycolytic activity in colorectal cancer via the NF-kappaB signaling pathway.
Title: Prolyl hydroxylase 2 inhibits glycolytic activity in colorectal cancer via the NF‑κB signaling pathway.
Loss of prolyl hydroxylase 1 and 2 in SM22alpha-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
Title: Loss of prolyl hydroxylase 1 and 2 in SM22α-expressing cells prevents Hypoxia-Induced pulmonary hypertension.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Title: Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
A mitochondrial EglN1-AMPKalpha axis drives breast cancer progression by enhancing metabolic adaptation to hypoxic stress.
Title: A mitochondrial EglN1-AMPKα axis drives breast cancer progression by enhancing metabolic adaptation to hypoxic stress.
The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-alpha.
Title: The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-α.
Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema.
Title: Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema.

Submit: New GeneRIF Correction See all GeneRIFs (148)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Erythrocytosis, familial, 3 MedGen: C1853286 OMIM: 609820 GeneReviews: Not available	Compare labs
Hemoglobin, high altitude adaptation MedGen: C1836778 OMIM: 609070 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif downregulates the expression of egl-9 family hypoxia-inducible factor 1 (EGLN1) in Vif-expression T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH64701 (e-PCR)
- UniSTS:57089

G19709 (e-PCR)
- UniSTS:57360

A001W16 (e-PCR)
- UniSTS:57361

RH36231 (e-PCR)
- UniSTS:80951

RH48299 (e-PCR)
- UniSTS:44871

STS-T77466 (e-PCR)
- UniSTS:15498

WI-11258 (e-PCR)
- UniSTS:62354

RH15809 (e-PCR)
- UniSTS:50882

SHGC-76521 (e-PCR)
- UniSTS:46787

RH79614 (e-PCR)
- UniSTS:84195

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 2-oxoglutarate-dependent dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables L-ascorbic acid binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	ISS Inferred from Sequence or Structural Similarity more info
enables ferrous iron binding	IBA Inferred from Biological aspect of Ancestor more info
enables ferrous iron binding	IDA Inferred from Direct Assay more info	PubMed
enables hypoxia-inducible factor-proline dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidyl-proline 4-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptidyl-proline dioxygenase activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cardiac muscle tissue morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hypoxia	IBA Inferred from Biological aspect of Ancestor more info
involved_in heart trabecula formation	IEA Inferred from Electronic Annotation more info
involved_in intracellular iron ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in intracellular oxygen homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in labyrinthine layer development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cyclic-nucleotide phosphodiesterase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of modification of postsynaptic structure	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation protein catabolic process at postsynapse	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IDA Inferred from Direct Assay more info	PubMed
involved_in response to nitric oxide	IDA Inferred from Direct Assay more info	PubMed
involved_in ventricular septum morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: egl nine homolog 1

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

NP_001364189.1

EC 1.14.11.29

NP_001364190.1

EC 1.14.11.29

NP_071334.1

EC 1.14.11.29

XP_024303502.1

EC 1.14.11.29

XP_054193134.1

EC 1.14.11.29

NCBI Reference Sequences (RefSeq)

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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

7758..66289

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001377260.1 → NP_001364189.1 egl nine homolog 1 isoform 2

Status: REVIEWED

Source sequence(s)

AL117352, AL445524

UniProtKB/TrEMBL

R4SCP5

Conserved Domains (2) summary

smart00702
Location:220 → 380

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

pfam01753
Location:21 → 58

zf-MYND; MYND finger
NM_001377261.1 → NP_001364190.1 egl nine homolog 1 isoform 3

Status: REVIEWED

Source sequence(s)

AL117352, AL445524

UniProtKB/TrEMBL

R4SCP5

Conserved Domains (2) summary

pfam01753
Location:21 → 58

zf-MYND; MYND finger

cl21496
Location:220 → 333

2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
NM_022051.3 → NP_071334.1 egl nine homolog 1 isoform 1

See identical proteins and their annotated locations for NP_071334.1

Status: REVIEWED

Source sequence(s)

AF229245, AI017372, AL117352

Consensus CDS

CCDS1595.1

UniProtKB/Swiss-Prot

Q8N3M8, Q9BZS8, Q9BZT0, Q9GZT9

UniProtKB/TrEMBL

R4SCP5, R4SCQ0

Related

ENSP00000355601.3, ENST00000366641.4

Conserved Domains (2) summary

smart00702
Location:220 → 391

P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

pfam01753
Location:21 → 58

zf-MYND; MYND finger

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

231363756..231422287 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024447734.2 → XP_024303502.1 egl nine homolog 1 isoform X1

UniProtKB/TrEMBL

R4SCP5

Conserved Domains (2) summary

pfam01753
Location:21 → 58

zf-MYND; MYND finger

cl21496
Location:220 → 333

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