Version: 8.0.0
Date: Tue Jan 28 2025
Egln1
Mus musculusMGI:1932286
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Egln1

Species
Mus musculus
Symbol
Egln1
Name
egl-9 family hypoxia-inducible factor 1
Synonyms
  • AI503754
  • expressed sequence AI503754
Biotype
protein coding gene
Automated Description
Predicted to enable enzyme binding activity; ferrous iron binding activity; and hypoxia-inducible factor-proline dioxygenase activity. Involved in several processes, including positive regulation of transcription by RNA polymerase II; regulation of modification of postsynaptic structure; and regulation protein catabolic process at postsynapse. Acts upstream of or within heart morphogenesis and labyrinthine layer development. Is active in glutamatergic synapse and postsynaptic density. Is expressed in central nervous system; genitourinary system; and trunk. Human ortholog(s) of this gene implicated in familial erythrocytosis 3; polycythemia; and renal cell carcinoma. Orthologous to human EGLN1 (egl-9 family hypoxia inducible factor 1).
MGI Description
PHENOTYPE: Mice homozygous for a null allele display embryonic lethality during organogenesis with abnormal placental and cardiac morphology. Ubiquitous induced conditional null mice display increased angiogenesis, angiectasia, and increased hematopoietic activity. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR12907
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
Phenotype Term
Annotation details
References
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
      Has Disease Annotations
      Has Phenotype Annotations
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCm39
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          Egln1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            Egln1 role
            Egln1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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