Human Gene DYRK1A (ENST00000647188.2_9) from GENCODE V47lift37
  Description: dual specificity tyrosine phosphorylation regulated kinase 1A, transcript variant 6 (from RefSeq NM_001347721.2)
Gencode Transcript: ENST00000647188.2_9
Gencode Gene: ENSG00000157540.22_17
Transcript (Including UTRs)
   Position: hg19 chr21:38,739,075-38,898,660 Size: 159,586 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg19 chr21:38,792,677-38,884,834 Size: 92,158 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:38,739,075-38,898,660)mRNA (may differ from genome)Protein (754 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: DYR1A_HUMAN
DESCRIPTION: RecName: Full=Dual specificity tyrosine-phosphorylation-regulated kinase 1A; EC=2.7.12.1; AltName: Full=Dual specificity YAK1-related kinase; AltName: Full=HP86; AltName: Full=Protein kinase minibrain homolog; Short=MNBH; Short=hMNB;
FUNCTION: May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates.
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
ENZYME REGULATION: Inhibited by RANBP9.
SUBUNIT: Interacts RAD54L2/ARIP4 (By similarity). Interacts with RANBP9. Interacts with WDR68.
INTERACTION: P31946:YWHAB; NbExp=3; IntAct=EBI-1053621, EBI-359815;
SUBCELLULAR LOCATION: Nucleus speckle.
TISSUE SPECIFICITY: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney.
DEVELOPMENTAL STAGE: Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down syndrome brain.
DOMAIN: The polyhistidine repeats act as targeting signals to nuclear speckles (PubMed:19266028).
PTM: Autophosphorylated on tyrosine residues.
DISEASE: Defects in DYRK1A are the cause of mental retardation autosomal dominant type 7 (MRD7) [MIM:614104]. A disease characterized by primary microcephaly, severe mental retardation without speech, anxious autistic behavior, and dysmorphic features, including bitemporal narrowing, deep-set eyes, large simple ears, and a pointed nasal tip. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.
SIMILARITY: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
SIMILARITY: Contains 1 protein kinase domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: DYRK1A
Diseases sorted by gene-association score: mental retardation, autosomal dominant 7* (1019), intellectual disability syndrome due to a dyrk1a point mutation* (350), microcephaly* (299), visual epilepsy* (151), intellectual disability* (118), seizure disorder* (92), alacrima, achalasia, and mental retardation syndrome* (69), down syndrome (35), dyrk1a-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion* (25), syndromic intellectual disability (10), chromosomal disease (9), baraitser-winter syndrome (5), alzheimer disease (4), autosomal dominant non-syndromic intellectual disability (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C009505 4,4'-diaminodiphenylmethane
  • C471843 6-((3-chloro)anilino)-2-(isopropyl-2-hydroxyethylamino)-9-isopropylpurine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D000643 Ammonium Chloride
  • D001564 Benzo(a)pyrene
  • D002794 Choline
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -501.00932-0.538 Picture PostScript Text
3' UTR -4436.5013826-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR002290 - Ser/Thr_dual-sp_kinase_dom
IPR008271 - Ser/Thr_kinase_AS

Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VX3 - X-ray MuPIT 2WO6 - X-ray MuPIT 3ANQ - X-ray MuPIT 3ANR - X-ray MuPIT 4AZE - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q13627
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003779 actin binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004712 protein serine/threonine/tyrosine kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004715 non-membrane spanning protein tyrosine kinase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008092 cytoskeletal protein binding
GO:0015631 tubulin binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0042802 identical protein binding
GO:0043621 protein self-association
GO:0048156 tau protein binding

Biological Process:
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0006468 protein phosphorylation
GO:0007399 nervous system development
GO:0007623 circadian rhythm
GO:0016032 viral process
GO:0016310 phosphorylation
GO:0018105 peptidyl-serine phosphorylation
GO:0018107 peptidyl-threonine phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0031115 negative regulation of microtubule polymerization
GO:0033120 positive regulation of RNA splicing
GO:0034205 beta-amyloid formation
GO:0036289 peptidyl-serine autophosphorylation
GO:0038083 peptidyl-tyrosine autophosphorylation
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator
GO:0046777 protein autophosphorylation
GO:0048025 negative regulation of mRNA splicing, via spliceosome
GO:0090312 positive regulation of protein deacetylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005856 cytoskeleton
GO:0016607 nuclear speck
GO:0030424 axon
GO:0030425 dendrite
GO:1990904 ribonucleoprotein complex
GO:0005874 microtubule
GO:0005883 neurofilament
GO:0005884 actin filament


-  Descriptions from all associated GenBank mRNAs
  LF210675 - JP 2014500723-A/18178: Polycomb-Associated Non-Coding RNAs.
AB015282 - Homo sapiens mRNA for MNB/DYRK protein kinase, partial cds, alternatively spliced transcript MNB31.
AF108830 - Homo sapiens serine-threonine protein kinase (MNBH) mRNA, complete cds.
JA482235 - Sequence 218 from Patent WO2011072091.
JE980527 - Sequence 218 from Patent EP2862929.
AB015283 - Homo sapiens mRNA for MNB/DYRK protein kinase, partial cds, alternatively spliced transcript MNBEX134.
AB015284 - Homo sapiens mRNA for MNB/DYRK protein kinase, partial cds, alternatively spliced transcript MNBEX1-4.
D86550 - Homo sapiens mRNA for serine/threonine protein kinase, complete cds.
JA482234 - Sequence 217 from Patent WO2011072091.
JE980526 - Sequence 217 from Patent EP2862929.
HF584751 - Homo sapiens mRNA for partial dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A_var1 gene).
HF584752 - Homo sapiens mRNA for partial dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A_var2 gene).
JA482236 - Sequence 219 from Patent WO2011072091.
JE980528 - Sequence 219 from Patent EP2862929.
U52373 - Human serine/threonine kinase MNB (mnb) mRNA, complete cds.
JA482233 - Sequence 216 from Patent WO2011072091.
JE980525 - Sequence 216 from Patent EP2862929.
D85759 - Homo sapiens mRNA for MNB protein kinase, complete cds.
U58496 - Human mnb protein kinase homolog hp86 (DYRK) mRNA, complete cds.
MA446252 - JP 2018138019-A/18178: Polycomb-Associated Non-Coding RNAs.
JD287146 - Sequence 268170 from Patent EP1572962.
JD416861 - Sequence 397885 from Patent EP1572962.
BC156309 - Synthetic construct Homo sapiens clone IMAGE:100061742, MGC:190088 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A) mRNA, encodes complete protein.
BC172505 - Synthetic construct Homo sapiens clone IMAGE:100069199, MGC:199210 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A) mRNA, encodes complete protein.
LF340004 - JP 2014500723-A/147507: Polycomb-Associated Non-Coding RNAs.
LF340009 - JP 2014500723-A/147512: Polycomb-Associated Non-Coding RNAs.
LF340010 - JP 2014500723-A/147513: Polycomb-Associated Non-Coding RNAs.
AK301752 - Homo sapiens cDNA FLJ54921 complete cds, highly similar to Dual specific itytyrosine-phosphorylation-regulated kinase 1A (EC 2.7.12.1).
AJ001870 - Homo Sapiens mRNA, partial cDNA sequence for human mnb protein kinase homolog, DCR1-14.0.
LF340012 - JP 2014500723-A/147515: Polycomb-Associated Non-Coding RNAs.
Z25423 - H.sapiens protein-serine/threonine kinase gene, complete CDS.
LF340016 - JP 2014500723-A/147519: Polycomb-Associated Non-Coding RNAs.
JD538415 - Sequence 519439 from Patent EP1572962.
JD165764 - Sequence 146788 from Patent EP1572962.
JD492654 - Sequence 473678 from Patent EP1572962.
JD307977 - Sequence 289001 from Patent EP1572962.
LF340018 - JP 2014500723-A/147521: Polycomb-Associated Non-Coding RNAs.
JD252722 - Sequence 233746 from Patent EP1572962.
JD110959 - Sequence 91983 from Patent EP1572962.
JD364955 - Sequence 345979 from Patent EP1572962.
JD095442 - Sequence 76466 from Patent EP1572962.
JD234602 - Sequence 215626 from Patent EP1572962.
JD165180 - Sequence 146204 from Patent EP1572962.
JD399161 - Sequence 380185 from Patent EP1572962.
JD151609 - Sequence 132633 from Patent EP1572962.
AJ001871 - Homo Sapiens mRNA, partial cDNA sequence for human mnb protein kinase homolog, DCR1-14.0.
JD226445 - Sequence 207469 from Patent EP1572962.
JD197279 - Sequence 178303 from Patent EP1572962.
JD379120 - Sequence 360144 from Patent EP1572962.
LF340019 - JP 2014500723-A/147522: Polycomb-Associated Non-Coding RNAs.
DQ599012 - Homo sapiens piRNA piR-37078, complete sequence.
LF340020 - JP 2014500723-A/147523: Polycomb-Associated Non-Coding RNAs.
JD250072 - Sequence 231096 from Patent EP1572962.
BC030515 - Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, mRNA (cDNA clone IMAGE:5000692), with apparent retained intron.
BC065184 - Homo sapiens cDNA clone IMAGE:5020947, partial cds.
JD311197 - Sequence 292221 from Patent EP1572962.
JD072858 - Sequence 53882 from Patent EP1572962.
JD448097 - Sequence 429121 from Patent EP1572962.
JD427444 - Sequence 408468 from Patent EP1572962.
BC045802 - Homo sapiens cDNA clone IMAGE:4816388.
LF340021 - JP 2014500723-A/147524: Polycomb-Associated Non-Coding RNAs.
JD484171 - Sequence 465195 from Patent EP1572962.
JD260468 - Sequence 241492 from Patent EP1572962.
JD369490 - Sequence 350514 from Patent EP1572962.
JD512936 - Sequence 493960 from Patent EP1572962.
JD313692 - Sequence 294716 from Patent EP1572962.
LF340022 - JP 2014500723-A/147525: Polycomb-Associated Non-Coding RNAs.
JD284282 - Sequence 265306 from Patent EP1572962.
JD550727 - Sequence 531751 from Patent EP1572962.
JD264027 - Sequence 245051 from Patent EP1572962.
JD511732 - Sequence 492756 from Patent EP1572962.
JD201131 - Sequence 182155 from Patent EP1572962.
JD316298 - Sequence 297322 from Patent EP1572962.
JD531803 - Sequence 512827 from Patent EP1572962.
JD544641 - Sequence 525665 from Patent EP1572962.
JD291454 - Sequence 272478 from Patent EP1572962.
JD196679 - Sequence 177703 from Patent EP1572962.
JD109824 - Sequence 90848 from Patent EP1572962.
JD083812 - Sequence 64836 from Patent EP1572962.
LF340023 - JP 2014500723-A/147526: Polycomb-Associated Non-Coding RNAs.
AJ001873 - Homo Sapiens mRNA, partial cDNA sequence from cDNA selection, DCR1-16.0.
AJ001874 - Homo Sapiens mRNA,trapped exon e1b7, DCR1-16.0.
JD231921 - Sequence 212945 from Patent EP1572962.
JD255783 - Sequence 236807 from Patent EP1572962.
JD212238 - Sequence 193262 from Patent EP1572962.
MA575581 - JP 2018138019-A/147507: Polycomb-Associated Non-Coding RNAs.
MA575586 - JP 2018138019-A/147512: Polycomb-Associated Non-Coding RNAs.
MA575587 - JP 2018138019-A/147513: Polycomb-Associated Non-Coding RNAs.
MA575589 - JP 2018138019-A/147515: Polycomb-Associated Non-Coding RNAs.
MA575593 - JP 2018138019-A/147519: Polycomb-Associated Non-Coding RNAs.
MA575595 - JP 2018138019-A/147521: Polycomb-Associated Non-Coding RNAs.
MA575596 - JP 2018138019-A/147522: Polycomb-Associated Non-Coding RNAs.
MA575597 - JP 2018138019-A/147523: Polycomb-Associated Non-Coding RNAs.
MA575598 - JP 2018138019-A/147524: Polycomb-Associated Non-Coding RNAs.
MA575599 - JP 2018138019-A/147525: Polycomb-Associated Non-Coding RNAs.
MA575600 - JP 2018138019-A/147526: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_shhPathway - Sonic Hedgehog (Shh) Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q13627 (Reactome details) participates in the following event(s):

R-HSA-1362270 Phosphorylation of LIN52 component of MuvB by DYRK1A
R-HSA-1538133 G0 and Early G1
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-1640170 Cell Cycle

-  Other Names for This Gene
  Alternate Gene Symbols: DYR1A_HUMAN, DYRK, DYRK1A , ENST00000647188.1, MNB , MNBH, NM_001347721, O60769, Q13627, Q92582, Q92810, Q9UNM5, uc328ngi.1, uc328ngi.2
UCSC ID: ENST00000647188.2_9
RefSeq Accession: NM_001347721.2
Protein: Q13627 (aka DYR1A_HUMAN or DYRA_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DYRK1A:
dyrk1a-id (DYRK1A Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.