AlphaFold predicted structure
DYRK1A · Q13627
Mean pLDDT
66.4/ 100
Low
763 residues
Confidence breakdown
- Very high(≥ 90)43%
- Confident(70–90)6%
- Low(50–70)4%
- Very low(< 50)47%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
DYRK1A
Chr 21q22.13dual specificity tyrosine phosphorylation regulated kinase 1A
- MANE:
- ENST00000647188.2
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRetinal disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedStructural eye disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownBilateral congenital or childhood onset cataracts
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Disease associations (Open Targets)
DYRK1A-related intellectual disability syndrome
0.78complex neurodevelopmental disorder
0.62microcephaly
0.61Intellectual disability
0.55hereditary disease
0.55Rare genetic intellectual disability with developmental anomaly
0.52Seizure
0.51absent or delayed speech development
0.51Deeply set eye
0.51Feeding difficulties
0.51
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dual specificity tyrosine-phosphorylation-regulated kinase 1A
Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities (PubMed:20981014, PubMed:21127067, PubMed:23665168, PubMed:30773093, PubMed:8769099). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3 (PubMed:23665168). Plays an important role in double-strand breaks (DSBs) repair following DNA damage (PubMed:31024071). Mechanistically, phosphorylates RNF169 and increases its ability to block accumulation of TP53BP1 at the DSB sites thereby promoting homologous recombination repair (HRR) (PubMed:30773093). Also acts as a positive regulator of transcription by acting as a CTD kinase that mediates phosphorylation of the CTD (C-terminal domain) of the large subunit of RNA polymerase II (RNAP II) POLR2A (PubMed:25620562, PubMed:29849146). May play a role in a signaling pathway regulating nuclear functions of cell proliferation (PubMed:14500717). Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Has pro-survival function and negatively regulates the apoptotic process (By similarity). Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1 (By similarity). This in turn inhibits p53/TP53 activity and apoptosis (By similarity). Phosphorylates SEPTIN4, SEPTIN5 and SF3B1 at 'Thr-434' (By similarity)
Diseases associated with DYRK1A
Curated MONDO disease pages that list DYRK1A among their top associated genes.