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    Egln3 egl-9 family hypoxia-inducible factor 3 [ Mus musculus (house mouse) ]

    Gene ID: 112407, updated on 9-Dec-2024

    Summary

    Official Symbol
    Egln3provided by MGI
    Official Full Name
    egl-9 family hypoxia-inducible factor 3provided by MGI
    Primary source
    MGI:MGI:1932288
    See related
    Ensembl:ENSMUSG00000035105 AllianceGenome:MGI:1932288
    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
    Phd3; SM-20; Hif-p4h-3; 2610021G09Rik
    Summary
    Enables peptidyl-proline dioxygenase activity. Involved in regulation of cell population proliferation and regulation of neuron apoptotic process. Acts upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cytosol. Predicted to be active in cytoplasm and nucleus. Is expressed in several structures, including cardiovascular system; genitourinary system; gut; musculoskeletal system; and somite. Human ortholog(s) of this gene implicated in renal cell carcinoma. Orthologous to human EGLN3 (egl-9 family hypoxia inducible factor 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in small intestine adult (RPKM 16.9), stomach adult (RPKM 16.8) and 24 other tissues See more
    Orthologs
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    Genomic context

    See Egln3 in Genome Data Viewer
    Location:
    12 C1; 12 22.9 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (54225767..54250660, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (54178981..54203874, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_32153 Neighboring gene predicted gene, 35818 Neighboring gene STARR-seq mESC enhancer starr_32154 Neighboring gene STARR-seq mESC enhancer starr_32155 Neighboring gene STARR-seq mESC enhancer starr_32156 Neighboring gene STARR-seq mESC enhancer starr_32157 Neighboring gene predicted gene, 40424 Neighboring gene RIKEN cDNA 1700104L18 gene Neighboring gene predicted gene, 22220 Neighboring gene STARR-seq mESC enhancer starr_32158 Neighboring gene STARR-seq mESC enhancer starr_32159 Neighboring gene STARR-seq mESC enhancer starr_32161 Neighboring gene predicted gene, 35895

    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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables 2-oxoglutarate-dependent dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ferrous iron binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables hypoxia-inducible factor-proline dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables peptidyl-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peptidyl-proline 4-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptidyl-proline dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to hypoxia IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein hydroxylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein hydroxylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell population proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    prolyl hydroxylase EGLN3
    Names
    HIF-PH3
    HIF-prolyl hydroxylase 3
    HPH-3
    hypoxia-inducible factor prolyl hydroxylase 3
    prolyl hydroxylase domain-containing protein 3
    NP_082409.2
    XP_036013061.1

    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.

    mRNA and Protein(s)

    1. NM_028133.2NP_082409.2  prolyl hydroxylase EGLN3

      See identical proteins and their annotated locations for NP_082409.2

      Status: VALIDATED

      Source sequence(s)
      AK011502, AK044787, BQ175570
      Consensus CDS
      CCDS25908.1
      UniProtKB/TrEMBL
      A0A0R4J0H9
      Related
      ENSMUSP00000041874.4, ENSMUST00000039516.4
      Conserved Domains (1) summary
      smart00702
      Location:36213
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      54225767..54250660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036157168.1XP_036013061.1  prolyl hydroxylase EGLN3 isoform X1

      Conserved Domains (1) summary
      smart00702
      Location:193
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues