Version: 8.0.0
Date: Tue Jan 28 2025
AHI1
Homo sapiensHGNC:21575
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

AHI1

Species
Homo sapiens
Symbol
AHI1
Name
Abelson helper integration site 1
Synonyms
  • abelson helper integration site
  • abelson helper integration site 1 protein homolog
Biotype
protein coding gene
Automated Description
Enables identical protein binding activity. Predicted to be involved in several processes, including positive regulation of cellular component organization; retina morphogenesis in camera-type eye; and tube morphogenesis. Predicted to act upstream of or within several processes, including non-motile cilium assembly; retina development in camera-type eye; and vesicle targeting. Located in adherens junction; centrosome; and ciliary basal body. Implicated in Joubert syndrome 3; Joubert syndrome 4; and autism spectrum disorder. Biomarker of obesity and type 2 diabetes mellitus.
RGD Description
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR44499
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
          Viewer Help
          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

          AHI1 molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            AHI1 role
            AHI1 genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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