Human Gene DYRK1A (uc031rvi.1) Description and Page Index
  Description: Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 5, mRNA.
RefSeq Summary (NM_130438): 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-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr21:38,792,601-38,845,182 Size: 52,582 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr21:38,792,657-38,845,120 Size: 52,464 Coding Exon Count: 3 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathways
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr21:38,792,601-38,845,182)mRNA (may differ from genome)Protein (85 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
HGNCLynxMGIPubMedStanford SOURCEWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DYRK1A
CDC HuGE Published Literature: DYRK1A
Positive Disease Associations: HIV-1 , Waist-Hip Ratio
Related Studies:
  1. HIV-1
    Sebastiaan M Bol et al. PloS one 2011, Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages., PloS one. [PubMed 21364930]
    These findings suggest that the kinase DYRK1A is involved in the replication of HIV-1, in vitro in macrophages as well as in vivo.
  2. Waist-Hip Ratio
    Delilah Zabaneh et al. PloS one 2010, A genome-wide association study of the metabolic syndrome in Indian Asian men., PloS one. [PubMed 20694148]

-  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.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.20 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 174.73 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.8056-0.050 Picture PostScript Text
3' UTR -7.6062-0.123 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.

-  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

-  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.
MA575581 - JP 2018138019-A/147507: Polycomb-Associated Non-Coding RNAs.

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

-  Other Names for This Gene
  Alternate Gene Symbols: HF584751, uc010gno.1
UCSC ID: uc031rvi.1
RefSeq Accession: NM_130438

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

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: HF584751.1
exon count: 3CDS single in 3' UTR: no RNA size: 325
ORF size: 258CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 711.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.