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

    Gene ID: 54583, updated on 6-Jun-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EGLN1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 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

    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)

    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_001377260.1NP_001364189.1  egl nine homolog 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL117352, AL445524
      UniProtKB/TrEMBL
      R4SCP5
      Conserved Domains (2) summary
      smart00702
      Location:220380
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam01753
      Location:2158
      zf-MYND; MYND finger
    2. NM_001377261.1NP_001364190.1  egl nine homolog 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL117352, AL445524
      UniProtKB/TrEMBL
      R4SCP5
      Conserved Domains (2) summary
      pfam01753
      Location:2158
      zf-MYND; MYND finger
      cl21496
      Location:220333
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
    3. NM_022051.3NP_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:220391
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam01753
      Location:2158
      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_024447734.2XP_024303502.1  egl nine homolog 1 isoform X1

      UniProtKB/TrEMBL
      R4SCP5
      Conserved Domains (2) summary
      pfam01753
      Location:2158
      zf-MYND; MYND finger
      cl21496
      Location:220333
      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_054337159.1XP_054193134.1  egl nine homolog 1 isoform X1

      UniProtKB/TrEMBL
      R4SCP5