Gene

PLEKHA1

Species
Homo sapiens
Symbol
PLEKHA1
Name
pleckstrin homology domain containing A1
Synonyms
  • PH domain-containing family A member 1
  • pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1
Biotype
protein coding gene
Automated Description
Enables PDZ domain binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Involved in several processes, including B cell receptor signaling pathway; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cytosol; nucleoplasm; and ruffle membrane.
RGD Description
This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR14336
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
None
Other Sources
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Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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        Transgenic construct
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            122.38M122.39M122.40M122.41M122.42M122.43M122.44M

            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

            PLEKHA1 molecule type
            Interactor gene
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            Interactor molecule type
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              Genetic Interactions

              PLEKHA1 role
              PLEKHA1 genetic perturbation
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