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

    Gene ID: 54583, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See EGLN1 in Genome Data Viewer
    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_000001.11Genomic 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 Sharpr-MPRA regulatory region 8140 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:231663972-231665171 Neighboring gene TSNAX divergent transcript

    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 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. Studies on the Substrate Selectivity of the Hypoxia-Inducible Factor Prolyl Hydroxylase 2 Catalytic Domain. Abboud MI, et al. Chembiochem, 2018 Nov 2. PMID 30144273
    2. Inverse solvent isotope effects demonstrate slow aquo release from hypoxia inducible factor-prolyl hydroxylase (PHD2). Flagg SC, et al. Biochemistry, 2012 Aug 21. PMID 22747465, Free PMC Article
    3. Low expression of prolyl hydroxylase 2 is associated with tumor grade and poor prognosis in patients with colorectal cancer. Xie G, et al. Exp Biol Med (Maywood), 2012 Jul. PMID 22802519
    4. Thermal unfolding pathway of PHD2 catalytic domain in three different PHD2 species: computational approaches. Hadi-Alijanvand H, et al. PLoS One, 2012. PMID 23077544, Free PMC Article
    5. EGLN1 variants influence expression and SaO2 levels to associate with high-altitude pulmonary oedema and adaptation. Mishra A, et al. Clin Sci (Lond), 2013 Apr. PMID 23130672

    See all (241) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-alpha.
      Title: The ribosomal chaperone NACA recruits PHD2 to cotranslationally modify HIF-α.
    10. 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 (149)

    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 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
    NP_001364190.1
    NP_071334.1
    XP_024303502.1
    XP_054193134.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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