Version: 8.0.0
Date: Tue Jan 28 2025
Hnf1a
Mus musculusMGI:98504
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

Hnf1a

Species
Mus musculus
Symbol
Hnf1a
Name
HNF1 homeobox A
Synonyms
  • AI323641
  • expressed sequence AI323641
Biotype
protein coding gene
Automated Description
Enables several functions, including RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; identical protein binding activity; and protein dimerization activity. Involved in several processes, including D-glucose transmembrane transport; glucose homeostasis; and positive regulation of DNA-templated transcription. Acts upstream of or within several processes, including embryonic morphogenesis; monocarboxylic acid biosynthetic process; and monocarboxylic acid transport. Located in cytoplasm; photoreceptor outer segment; and pronucleus. Part of transcription regulator complex. Is expressed in several structures, including extraembryonic component; genitourinary system; gut; septum transversum hepatic component; and spleen. Used to study maturity-onset diabetes of the young type 3; phenylketonuria; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); cerebral infarction; glucose metabolism disease (multiple); liver disease (multiple); and renal cell carcinoma. Orthologous to human HNF1A (HNF1 homeobox A).
MGI Description
PHENOTYPE: Most homozygous null mutants die at 3-6 weeks from progressive wasting syndrome, liver and renal dysfunction and type II diabetes. Mutants have little or no phenylalanine hydroxylase, albumin, alpha 1-antitrypsin and secreted insulin. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11568
No data available
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
    Gene
    Association
    Disease Qualifier
    Disease
    Evidence
    Source
    Based On
    References
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
      Has Disease Annotations
      Has Phenotype Annotations
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        Download all Alleles/Variants for all genes of the species

        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
            Viewer Help
            115.088M115.090M115.092M115.094M115.096M115.098M115.100M115.102M115.104M115.106M115.108M

            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

            Hnf1a molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
            Source
            Reference
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              Genetic Interactions

              Hnf1a role
              Hnf1a genetic perturbation
              Interactor gene
              Interactor species
              Interactor role
              Interactor genetic perturbation
              Interaction type
              Phenotype or trait
              Source
              Reference
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