Version: 8.0.0
Date: Tue Jan 28 2025
HNF1A
Homo sapiensHGNC:11621
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

HNF1A

Species
Homo sapiens
Symbol
HNF1A
Name
HNF1 homeobox A
Synonyms
  • albumin proximal factor
  • hepatic nuclear factor 1
Biotype
protein coding gene
Automated Description
Enables DNA-binding transcription factor activity; protein dimerization activity; and transcription cis-regulatory region binding activity. Involved in several processes, including D-glucose transmembrane transport; insulin secretion; and positive regulation of transcription initiation by RNA polymerase II. Located in cytoplasm and nucleus. Part of protein-containing complex. Implicated in several diseases, including artery disease (multiple); cerebral infarction; glucose metabolism disease (multiple); liver disease (multiple); and renal cell carcinoma. Biomarker of chromophobe renal cell carcinoma and colorectal cancer.
RGD Description
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11568
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
None
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
    Has Disease Annotations
    Has Phenotype Annotations
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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
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          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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