Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1859
Gene name Gene Name - the full gene name approved by the HGNC.
Dual specificity tyrosine phosphorylation regulated kinase 1A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DYRK1A
Synonyms (NCBI Gene) Gene synonyms aliases
DYRK, DYRK1, HP86, MNB, MNBH, MRD7
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.13
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs149948846 A>C,G Conflicting-interpretations-of-pathogenicity Missense variant, 3 prime UTR variant, coding sequence variant
rs200808105 G>A Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, 3 prime UTR variant, coding sequence variant
rs373178770 C>A,G,T Pathogenic, uncertain-significance Stop gained, missense variant, coding sequence variant, genic upstream transcript variant
rs376106351 C>A,T Likely-pathogenic Synonymous variant, stop gained, coding sequence variant, intron variant
rs587776929 TA>- Pathogenic Frameshift variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT017031 hsa-miR-335-5p Microarray 18185580
MIRT024657 hsa-miR-215-5p Microarray 19074876
MIRT026006 hsa-miR-148a-3p Sequencing 20371350
MIRT026227 hsa-miR-192-5p Microarray 19074876
MIRT049774 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
REST Unknown 21252229
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000381 Process Regulation of alternative mRNA splicing, via spliceosome ISS
GO:0000724 Process Double-strand break repair via homologous recombination IDA 22492721
GO:0003713 Function Transcription coactivator activity IBA
GO:0003779 Function Actin binding IPI 24327345
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600855 3091 ENSG00000157540
Protein
UniProt ID Q13627
Protein name Dual specificity tyrosine-phosphorylation-regulated kinase 1A (EC 2.7.11.23) (EC 2.7.12.1) (Dual specificity YAK1-related kinase) (HP86) (Protein kinase minibrain homolog) (MNBH) (hMNB)
Protein 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 ar
PDB 2VX3 , 2WO6 , 3ANQ , 3ANR , 4AZE , 4MQ1 , 4MQ2 , 4NCT , 4YLJ , 4YLK , 4YLL , 4YU2 , 5A3X , 5A4E , 5A4L , 5A4Q , 5A4T , 5A54 , 5AIK , 6A1F , 6A1G , 6EIF , 6EIJ , 6EIL , 6EIP , 6EIQ , 6EIR , 6EIS , 6EIV , 6EJ4 , 6LN1 , 6QU2 , 6S11 , 6S14 , 6S17 , 6S1B , 6S1H , 6S1I , 6S1J , 6T6A , 6UIP , 6UWY , 6YF8 , 7A4O , 7A4R , 7A4S , 7A4W , 7A4Z , 7A51 , 7A52 , 7A53
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 159 479 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. {ECO:0000269|PubMed:10329007, ECO:0000269|PubMed:8769099, ECO:0000269|PubMed:8872470, ECO:0000269|PubMed:8975710}.
Sequence
MHTGGETSACKPSSVRLAPSFSFHAAGLQMAGQMPHSHQYSDRRQPNISDQQVSALSYSD
QIQQPLTNQVMPDIVMLQRRMPQTFRDPATAPLRKLSVDLIKTYKHINEVYYAKKKRRHQ
QGQGDDSSHKKERKVYNDGYDDDNYDYIVKNGEKWMDRYEIDSLIGKGSFGQVVKAYDRV
EQEWVAIKIIKNKKAFLNQAQIEVRLLELMNKHDTEMKYYIVHLKRHFMFRNHLCLVFEM
LSYNLYDLLRNTNFRGVSLNLTRKFAQQMCTALLFLATPELSIIHCDLKPENILLCNPKR
SAIKIVDFGSSCQLGQRIYQYIQSRFYRSPEVLLGMPYDLAIDMWSLGCILVEMHTGEPL
FSGANEVDQMNKIVEVLGIPPAHILDQAPKARKFFEKLPDGTWNLKKTKDGKREYKPPGT
RKLHNILGVETGGPGGRRAGESGHTVADYLKFKDLILRMLDYDPKTRIQPYYALQHSFF
K
KTADEGTNTSNSVSTSPAMEQSQSSGTTSSTSSSSGGSSGTSNSGRARSDPTHQHRHSGG
HFTAAVQAMDCETHSPQVRQQFPAPLGWSGTEAPTQVTVETHPVQETTFHVAPQQNALHH
HHGNSSHHHHHHHHHHHHHGQQALGNRTRPRVYNSPTNSSSTQDSMEVGHSHHSMTSLSS
STTSSSTSSSSTGNQGNQAYQNRPVAANTLDFGQNGAMDVNLTVYSNPRQETGIAGHPTY
QFSANTGPAHYMTEGHLTMRQGADREESPMTGVCVQQSPVASS
Sequence length 763
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    G0 and Early G1
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mental retardation DYRK1A-related intellectual disability syndrome, intellectual disability rs1555979158, rs797044526, rs1569380375, rs886041291, rs1064796367, rs724159950, rs1555982601, rs797044522, rs1555980467, rs886041658, rs780441716, rs724159948, rs1555985649, rs797044520, rs1555985742
View all (44 more)
N/A
autism spectrum disorder Autism spectrum disorder rs724159948 N/A
Developmental Delay global developmental delay rs886041291 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Pancreatic cancer Pancreatic cancer DYRK1A Knockout Enhances Radiotherapy Efficacy in Pancreatic Cancer Cells 35053488 CBGDA
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alcohol Related Disorders Associate 25920557
Alzheimer Disease Associate 18696092, 19995442, 20067632, 21573099, 25264830, 25756379, 26234946, 31683476, 32957634, 33380426, 33633844, 35194165
Alzheimer Disease Stimulate 27807027
Alzheimer's disease without Neurofibrillary tangles Associate 33380426
Amblyopia Associate 33562844
Amyloidosis Associate 25756379
Angelman Syndrome Associate 25944381
Antisocial Personality Disorder Associate 23077488
Ataxia Associate 25944381
Autism Spectrum Disorder Associate 23160955, 25707398, 32553196, 32887689, 32918531, 33562844, 33998396, 37031308, 37802655, 38382213