DYRK1A
entrez
1859
canonical
uniprot
Q13627
canonical
ensembl
ENSG00000157540
resolver
ensp
ENSP00000342690
resolver
ensp
ENSP00000381929
resolver
ensp
ENSP00000381932
resolver
ensp
ENSP00000494572
resolver
ensp
ENSP00000495571
resolver
ensp
ENSP00000495908
resolver
ensp
ENSP00000496748
resolver
enst
ENST00000647504
resolver
genesymbol
DYRK1A
resolver
genesymbol_syn
DYRK
resolver
genesymbol_syn
MNB
resolver
genesymbol_syn
MNBH
resolver
hgnc
HGNC:3091
resolver
uniprot
A0A2R8Y6I6
resolver
uniprot
O60769
resolver
uniprot
Q92582
resolver
uniprot
Q92810
resolver
uniprot
Q9UNM5
resolver
uniprot_entry
A0A2R8Y6I6_HUMAN
resolver
uniprot_entry
DYR1A_HUMAN
resolver
uniprot_sec
O60769
resolver
uniprot_sec
Q92582
resolver
uniprot_sec
Q92810
resolver
uniprot_sec
Q9UNM5
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by RANBP9 (PubMed:14500717). Inhibited by harmine, leucettamine B and leucettine L41 (PubMed:22998443). {ECO:0000269|PubMed:14500717, ECO:0000269|PubMed:22998443}.
uniprot
proteins
amino_acid_sequence
MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSDQIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQQGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRVEQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEMLSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKRSAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPLFSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGTRKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFFKKTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGGHFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQVTVETHPVQETTFHVAPQQNALHHHHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVGHSHHSMTSLSSSTTSSSTSSSSTGNQGNQAYQNRPVAANTLDFGQNGAMDVNLTVYSNPRQETGIAGHPTYQFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSPVASS
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder, autosomal dominant 7 (MRD7) [MIM:614104]: A disease characterized by primary microcephaly, severe intellectual disability without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Intellectual disability is characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269|PubMed:21294719, ECO:0000269|PubMed:23160955}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.23
uniprot
proteins
ec_number
2.7.12.1
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:Q61214, ECO:0000250|UniProtKB:Q63470, ECO:0000269|PubMed:14500717, ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:21127067, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:25620562, ECO:0000269|PubMed:29849146, ECO:0000269|PubMed:30773093, ECO:0000269|PubMed:31024071, ECO:0000269|PubMed:8769099}.
uniprot
proteins
mass_dalton
85584
uniprot
proteins
mutagenesis
MUTAGEN 188; /note="K->R: Abolished protein kinase activity."; /evidence="ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:25620562"; MUTAGEN 321; /note="Y->F: Mildly reduces kinase activity. Does not abolish autophosphorylation on tyrosine residues."; /evidence="ECO:0000269|PubMed:23665168
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated on numerous tyrosine residues. Can also autophosphorylate on serine and threonine residues (in vitro). {ECO:0000269|PubMed:23665168}.
uniprot
proteins
protein_family
CMGC Ser/Thr protein kinase family
uniprot
proteins
protein_family
MNB/DYRK subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10329007
uniprot
proteins
pubmed
14500717
uniprot
proteins
pubmed
14593110
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19266028
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20167603
uniprot
proteins
pubmed
20981014
uniprot
proteins
pubmed
21127067
uniprot
proteins
pubmed
21294719
uniprot
proteins
pubmed
22998443
uniprot
proteins
pubmed
23160955
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23415227
uniprot
proteins
pubmed
23665168
uniprot
proteins
pubmed
23864635
uniprot
proteins
pubmed
24239188
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25620562
uniprot
proteins
pubmed
29849146
uniprot
proteins
pubmed
30773093
uniprot
proteins
pubmed
31024071
uniprot
proteins
pubmed
39028815
uniprot
proteins
pubmed
8769099
uniprot
proteins
pubmed
8872470
uniprot
proteins
pubmed
8975710
uniprot
proteins
pubmed
9037601
uniprot
proteins
pubmed
9503011
uniprot
proteins
sequence_length
763
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:23415227, ECO:0000269|PubMed:25620562}. Nucleus speckle {ECO:0000250|UniProtKB:Q61214}.
uniprot
proteins