DYRK1A 21:38738092-38889753

Forward strand gene: dual specificity tyrosine phosphorylation regulated kinase 1A

Formerly known as: DYRK1, DYRK, MNBH

Also known as: ENSG00000157540

Function: Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity). Source: UniProt

DECIPHER holds 38 sequence variants in this gene, in 38 open-access patients

Name RefSeq Location Size Type Protein Exons
DYRK1A-009 (ENST00000608928)
21:38738092-38792687
54.60 kb processed_transcript 2
DYRK1A-002 (ENST00000462274)
21:38739236-38858783
119.55 kb processed_transcript 5
DYRK1A-001 (ENST00000338785) NM_101395
21:38739879-38887680
147.80 kb protein_coding 584aa 13
DYRK1A-004 (ENST00000455097)
21:38739883-38845113
105.23 kb protein_coding 46aa 4
DYRK1A-005 (ENST00000426672)
21:38739883-38853007
113.12 kb protein_coding 131aa 5
DYRK1A-202 (ENST00000451934)
21:38791207-38878610
87.40 kb protein_coding 584aa 10
DYRK1A-201 (ENST00000321219)
21:38791207-38878651
87.44 kb protein_coding 541aa 11
DYRK1A-003 (ENST00000339659) NM_130436
21:38791207-38889753
98.55 kb protein_coding 754aa 11
DYRK1A-006 (ENST00000398960) NM_001396
NM_130438
21:38792602-38884889
92.29 kb canonical protein_coding 763aa 11
DYRK1A-007 (ENST00000498351)
21:38792627-38845017
52.39 kb processed_transcript 3
DYRK1A-008 (ENST00000398956)
21:38792677-38884257
91.58 kb protein_coding 529aa 10
DYRK1A-203 (ENST00000455387)
21:38861087-38884862
23.78 kb protein_coding 535aa 7