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

Gene ID: 54583, updated on 3-Apr-2024

Summary

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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
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Genomic context

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Location:
1q42.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (231363756..231422287, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (230746985..230805510, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231499502..231558033, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231472900-231473775 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231473776-231474650 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:231474651-231475525 Neighboring gene exocyst complex component 8 Neighboring gene SprT-like N-terminal domain Neighboring gene uncharacterized LOC107985360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2729 Neighboring gene Sharpr-MPRA regulatory region 11665 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:231538414-231538617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2730 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:231558174-231558498 Neighboring gene NANOG hESC enhancer GRCh37_chr1:231614566-231615067 Neighboring gene small nuclear ribonucleoprotein D2 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:231634962-231635134 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:231647424-231648623 Neighboring gene uncharacterized LOC122526782 Neighboring gene Sharpr-MPRA regulatory region 8140 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:231663972-231665171

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema. Sharma K, et al. Clin Epigenetics, 2022 Sep 30. PMID 36180894, Free PMC Article
  2. Gain-of-function Tibetan PHD2(D4E;C127S) variant suppresses monocyte function: A lesson in inflammatory response to inspired hypoxia. Bhattacharya S, et al. EBioMedicine, 2021 Jun. PMID 34102396, Free PMC Article
  3. Inhibiting PHD2 in human periodontal ligament cells via lentiviral vector-mediated RNA interference facilitates cell osteogenic differentiation and periodontal repair. Cui D, et al. J Leukoc Biol, 2021 Sep. PMID 33988258
  4. An integrative functional genomics approach reveals EGLN1 as a novel therapeutic target in KRAS mutated lung adenocarcinoma. Reggiani F, et al. Mol Cancer, 2021 Apr 6. PMID 33823854, Free PMC Article
  5. Use of cyclic peptides to induce crystallization: case study with prolyl hydroxylase domain 2. Chowdhury R, et al. Sci Rep, 2020 Dec 15. PMID 33319810, Free PMC Article

See all (227) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-alpha.
    Title: The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-α.
  9. 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.
  10. Adipocyte-derived lactate is a signalling metabolite that potentiates adipose macrophage inflammation via targeting PHD2.
    Title: Adipocyte-derived lactate is a signalling metabolite that potentiates adipose macrophage inflammation via targeting PHD2.
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)

Genotypes

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp761F179

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 peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
Inferred from Direct Assay
more info
 PubMed 
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 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
NP_001364190.1
NP_071334.1
XP_024303502.1
XP_054193134.1

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

  1. NG_015865.1 RefSeqGene

    Range
    7758..66289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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

  3. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    231363756..231422287 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    230746985..230805510 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337159.1 → XP_054193134.1  egl nine homolog 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9GZT9.1 GenPept UniProtKB/Swiss-Prot:Q9GZT9

Gene LinkOut

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