Gene

DYRK1A

Species
Homo sapiens
Symbol
DYRK1A
Name
dual specificity tyrosine phosphorylation regulated kinase 1A
Synonyms
  • dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
  • dual specificity tyrosine-phosphorylation-regulated kinase 1A
Biotype
protein coding gene
Automated Description
Enables cytoskeletal protein binding activity; identical protein binding activity; and protein kinase activity. Involved in amyloid-beta formation; positive regulation of gene expression; and protein phosphorylation. Acts upstream of or within peptidyl-tyrosine phosphorylation. Located in actin filament; microtubule; and neurofilament. Is active in nucleus. Implicated in autism spectrum disorder; autosomal dominant intellectual developmental disorder 7; and intellectual disability. Biomarker of Down syndrome.
RGD Description
This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24058
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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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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        Models

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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          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

          DYRK1A molecule type
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            Genetic Interactions

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