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    Egln1 egl-9 family hypoxia-inducible factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 112405, updated on 16-Nov-2018

    Summary

    Official Symbol
    Egln1provided by MGI
    Official Full Name
    egl-9 family hypoxia-inducible factor 1provided by MGI
    Primary source
    MGI:MGI:1932286
    See related
    Ensembl:ENSMUSG00000031987 Vega:OTTMUSG00000061572
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Phd2; HPH-2; ORF13; SM-20; C1orf12; HIF-PH2; AI503754; Hif-p4h-2
    Expression
    Ubiquitous expression in heart adult (RPKM 63.4), ovary adult (RPKM 20.9) and 27 other tissues See more
    Orthologs

    Genomic context

    See Egln1 in Genome Data Viewer
    Location:
    8; 8 E2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (124908586..124949319, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (127432487..127473154, complement)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene exocyst complex component 8 Neighboring gene SprT-like N-terminal domain Neighboring gene predicted gene, 46060 Neighboring gene predicted gene, 39281 Neighboring gene translin-associated factor X

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    ferrous iron binding ISO
    Inferred from Sequence Orthology
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors ISO
    Inferred from Sequence Orthology
    more info
     
    peptidyl-proline 4-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    peptidyl-proline dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    cardiac muscle tissue morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular iron ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart trabecula formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    labyrinthine layer development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of CAMKK-AMPK signaling cascade ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of cyclic-nucleotide phosphodiesterase activity ISO
    Inferred from Sequence Orthology
    more info
     
    oxidation-reduction process IEA
    Inferred from Electronic Annotation
    more info
     
    oxygen homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    peptidyl-proline hydroxylation to 4-hydroxy-L-proline ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of neuron death ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of neuron death IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of postsynapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of postsynapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of protein catabolic process at postsynapse, modulating synaptic transmission IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of protein catabolic process at postsynapse, modulating synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    response to nitric oxide ISO
    Inferred from Sequence Orthology
    more info
     
    ventricular septum morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    egl nine homolog 1
    Names
    HIF-prolyl hydroxylase 2
    hypoxia-inducible factor prolyl hydroxylase 2
    prolyl hydroxylase domain-containing protein 2
    NP_444437.2
    XP_006530641.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_001363475.1NP_001350404.1  egl nine homolog 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate coding exon in the 3' end compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC139158
      Conserved Domains (3) summary
      pfam01753
      Location:2158
      zf-MYND; MYND finger
      cl21496
      Location:192310
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
      cl26464
      Location:63167
      Atrophin-1; Atrophin-1 family
    2. NM_053207.2NP_444437.2  egl nine homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_444437.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AF453878, AJ310546, AK084519, CJ181087
      Consensus CDS
      CCDS52706.1
      UniProtKB/Swiss-Prot
      Q91YE3
      Related
      ENSMUSP00000034469.5, OTTMUSP00000077865, ENSMUST00000034469.6, OTTMUST00000150195
      Conserved Domains (2) summary
      smart00702
      Location:192368
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam01753
      Location:2158
      zf-MYND; MYND finger

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      124908586..124949319 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530578.2XP_006530641.1  egl nine homolog 1 isoform X1

      Conserved Domains (3) summary
      pfam01753
      Location:2158
      zf-MYND; MYND finger
      cl21496
      Location:192310
      2OG-FeII_Oxy; 2OG-Fe(II) oxygenase superfamily
      cl26464
      Location:63167
      Atrophin-1; Atrophin-1 family
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