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

    Gene ID: 54583, updated on 5-Nov-2017
    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; 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; 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]
    Orthologs
    Location:
    1q42.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (231363751..231425044, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (231499497..231560790, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985360 Neighboring gene exocyst complex component 8 Neighboring gene SprT-like N-terminal domain Neighboring gene small nuclear ribonucleoprotein D2 pseudogene 2 Neighboring gene TSNAX-DISC1 readthrough (NMD candidate) Neighboring gene translin associated factor X

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp761F179

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular iron ion homeostasis 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 DNA binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cAMP catabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of cyclic-nucleotide phosphodiesterase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-proline hydroxylation to 4-hydroxy-L-proline IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of neuron death IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of transcription from RNA polymerase II promoter in response to hypoxia TAS
    Traceable Author Statement
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to nitric oxide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ventricular septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    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_071334.1
    XP_005273223.1
    XP_005273224.1

    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
      5001..66294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022051.2NP_071334.1  egl nine homolog 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
      Q9GZT9
      UniProtKB/TrEMBL
      R4SCQ0
      Related
      ENSP00000355601.3, OTTHUMP00000036152, ENST00000366641.3, OTTHUMT00000092879
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      231363751..231425044 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273167.4XP_005273224.1  egl nine homolog 1 isoform X2

      Conserved Domains (2) summary
      pfam01753
      Location:2158
      zf-MYND; MYND finger
      cl21496
      Location:220333
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
    2. XM_005273166.4XP_005273223.1  egl nine homolog 1 isoform X1

      Conserved Domains (2) summary
      smart00702
      Location:220380
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam01753
      Location:2158
      zf-MYND; MYND finger

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      232773121..232834670 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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