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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DYRK1A Gene

protein-coding   GIFtS: 71
GCID: GC21P038739

Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated...


(Previous symbols: DYRK1, DYRK, MNBH)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A1 2     Dual-Specificity Tyrosine-Y-Phosphorylation Regulated Kinase, EC 2.7.111
MNBH1 2 3 5     MRD72
DYRK1 2 3     Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A2
MNB2 3 5     Mnb Protein Kinase Homolog Hp862
DYRK11 2     MNB/DYRK Protein Kinase2
Dual Specificity YAK1-Related Kinase2 3     Serine/Threonine Kinase MNB2
Protein Kinase Minibrain Homolog2 3     Serine/Threonine-Specific Protein Kinase2
HP862 3     EC 2.7.12.13
hMNB2 3     EC 2.7.128

External Ids:    HGNC: 30911   Entrez Gene: 18592   Ensembl: ENSG000001575407   OMIM: 6008555   UniProtKB: Q136273   

Export aliases for DYRK1A gene to outside databases

Previous GC identifers: GC21P035317 GC21P037659 GC21P037712 GC21P037660 GC21P037661 GC21P024215


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DYRK1A 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-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)

GeneCards Summary for DYRK1A Gene: 
DYRK1A (dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A) is a protein-coding gene. Diseases associated with DYRK1A include down syndrome, and down syndrome critical region, and among its related super-pathways are Cell Cycle, Mitotic and G1/S Transition. GO annotations related to this gene include protein serine/threonine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is DYRK2.

UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627
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 such as CRY2,
FOXO1 and SIRT1

Gene Wiki entry for DYRK1A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011512.11  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DYRK1A gene promoter:
         AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DYRK1A promoter sequence

   Search SABiosciences Chromatin IP Primers for DYRK1A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DYRK1A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.13   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.13
Nature(405: 311-319) cytogenetic band:   21q22.13
DYRK1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DYRK1A gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P038739:   GeneLoc Nature:405,311-319
Start:
38,739,236 bp from pter       24,367,732 bp from centromere
End:
38,887,680 bp from pter 24,464,002 bp from centromere
Size:
148,445 bases 96,271 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: D86550
genomic clones: pT1091 to pS165


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627 (See protein sequence)
Recommended Name: Dual specificity tyrosine-phosphorylation-regulated kinase 1A  
Size: 763 amino acids; 85584 Da
Subunit: Interacts RAD54L2/ARIP4. Interacts with CRY2 (By similarity). Interacts with RANBP9. Interacts with WDR68
Subcellular location: Nucleus speckle
Developmental stage: Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down
syndrome brain
5 PDB 3D structures from and Proteopedia for DYRK1A:
2VX3 (3D)        2WO6 (3D)        3ANQ (3D)        3ANR (3D)        4AZE (3D)    
Secondary accessions: O60769 Q92582 Q92810 Q9UNM5
Alternative splicing: 5 isoforms:  Q13627-1   Q13627-2   Q13627-3   Q13627-4   Q13627-5   

Explore the universe of human proteins at neXtProt for DYRK1A: NX_Q13627

Explore proteomics data for DYRK1A at MOPED 

Post-translational modifications:

  • UniProtKB: Autophosphorylated on tyrosine residues
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13627

  • 4/21 DME Specific Peptides for DYRK1A (Q13627) (see all 21)
     QYSDRRQ  DQIQQPL  EAPTQVT  QAPKARK 

    DYRK1A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DYRK1A Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001387.2  NP_567824.1  NP_569120.1  NP_569122.1  

    ENSEMBL proteins: 
     ENSP00000342690   ENSP00000398483   ENSP00000412269   ENSP00000340373   ENSP00000381932  
     ENSP00000381929   ENSP00000319032   ENSP00000416089   ENSP00000407854  
    Reactome Protein details: Q13627
    Human Recombinant Protein Products for DYRK1A: 
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    Cloud-Clone Corp. Proteins for DYRK1A 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0016607nuclear speck ISS--
    GO:0030529ribonucleoprotein complex IEA--

    DYRK1A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 
    Dyrk1 subfamily

    5 InterPro protein domains:
     IPR017441 Protein_kinase_ATP_BS
     IPR002290 Ser/Thr_dual-sp_kinase_dom
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry Q13627

    ProtoNet protein and cluster: Q13627

    UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627
    Domain: The polyhistidine repeats act as targeting signals to nuclear speckles (PubMed:19266028)
    Similarity: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily
    Similarity: Contains 1 protein kinase domain


    DYRK1A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DYR1A_HUMAN, Q13627
    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 such as CRY2,
    FOXO1 and SIRT1
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Inhibited by RANBP9

         Genatlas biochemistry entry for DYRK1A:
    dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1,Drosophila minibrain homolog Dres27,mouse homolog
    ubiquitously expressed at low levels in embryo,expressed in adult central nervous system
    -cortex,hippocampus,striatum and spinal cord) located in the Down syndrome critical region (DCR),involved in
    post-embryonic neurogenesis,putatively overexpressed in Down syndrome and involved in the learning defect and in
    hypotonia

         Enzyme Numbers (IUBMB): EC 2.7.122 EC 2.7.12.11

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity TAS8769099
    GO:0004674protein serine/threonine kinase activity ISS--
    GO:0004712protein serine/threonine/tyrosine kinase activity IEA--
    GO:0004713protein tyrosine kinase activity ISS--
    GO:0004715non-membrane spanning protein tyrosine kinase activity IDA9748265
         
    DYRK1A for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for DYRK1A:
     Decreased 12E8 tau but not tot  Decreased substrate adherent c  Increased cell death HMECs cel  Increased colony dispersion (i 
     Increased mitotic index 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dyrk1a):
     cardiovascular system  craniofacial  embryogenesis  growth/size  liver/biliary system 
     mortality/aging  nervous system 

    DYRK1A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dyrk1atm1Mla for DYRK1A

       inGenious Targeting Laboratory - Custom generated mouse model solutions for DYRK1A 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for DYRK1A About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    2Mitotic G1-G1/S phases
    Mitotic G1-G1/S phases0.80
    3Translation Insulin regulation of translation
    Translation Regulation activity of EIF20.47
    4Hedgehog Signaling Pathway
    Hedgehog Signaling Pathway0.32
    5Cell cycle Cell cycle (generic schema)
    G0 and Early G10.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for DYRK1A
        Translation Regulation activity of EIF2

    1 R&D Systems Pathway for DYRK1A
        Notch Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for DYRK1A
        Neuroscience

    1 GeneGo (Thomson Reuters) Pathway for DYRK1A
        Translation Regulation of EIF2 activity

    1 BioSystems Pathway for DYRK1A
        Hedgehog Signaling Pathway

    4        Reactome Pathways for DYRK1A
        Mitotic G1-G1/S phases
    G0 and Early G1
    Cell Cycle
    Cell Cycle, Mitotic



    DYRK1A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DYRK1A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/64 Interacting proteins for DYRK1A (Q136271, 2, 3 ENSP000003819324) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation ISS--
    GO:0007399nervous system development TAS8769099
    GO:0007623circadian rhythm ISS--
    GO:0018105peptidyl-serine phosphorylation IEA--

    DYRK1A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DYRK1A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DYRK1A (DYR1A)

    2 HMDB Compounds for DYRK1A    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    1 DrugBank Compound for DYRK1A    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-(5-{[(2S)-4-amino-2-(3-chlorophenyl)butanoyl]amino}-1H-indazol-3-yl)benzamide-- --target--10592235

    10 Novoseek inferred chemical compound relationships for DYRK1A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 63.7 6 15780591 (1), 11828259 (1), 14990717 (1), 19016842 (1) (see all 6)
    serine 52.2 4 11828259 (1), 14990717 (1), 19801542 (1), 19796173 (1)
    tyrosine 49.9 47 17536841 (6), 19796173 (3), 12604362 (2), 19016842 (2) (see all 17)
    glycogen 40.2 1 11311121 (1)
    phosphotyrosine 21.3 10 17536841 (2)
    leucine 11.7 2 8975710 (1), 9070862 (1)
    arginine 8.37 4 10644696 (1), 14623875 (1), 11755526 (1)
    proline 3.33 2 11311121 (1)
    histidine 0 1 17536841 (1)
    alanine 0 2 10644696 (1), 12604362 (1)

    Search CenterWatch for drugs/clinical trials and news about DYRK1A / DYR1A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for DYRK1A gene (5 alternative transcripts): 
    NM_001396.3  NM_101395.2  NM_130436.2  NM_130438.2  NM_130437.2  

    Unigene Cluster for DYRK1A:

    Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
    Hs.368240  [show with all ESTs]
    Unigene Representative Sequence: NM_130436
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462274 ENST00000338785(uc002ywg.1 uc002ywh.1 uc002ywi.3 uc002ywk.3 uc002ywm.3 uc011aei.2)
    ENST00000455097(uc010gno.1) ENST00000426672 ENST00000339659(uc002ywj.3)
    ENST00000398960 ENST00000498351 ENST00000398956 ENST00000321219 ENST00000451934
    ENST00000455387

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    Additional mRNA sequence: 

    AB015282.1 AB015283.1 AB015284.1 AF108830.1 AJ001870.1 AJ001871.1 AK301752.1 BC030515.1 
    BC045802.1 BC065184.1 D85759.1 D86550.1 U52373.1 U58496.1 Z25423.1 

    9 DOTS entries:

    DT.97806866  DT.100791954  DT.449194  DT.92438592  DT.75101238  DT.121141919  DT.121141927  DT.92044861 
    DT.92438591 

    24/287 AceView cDNA sequences (see all 287):

    BM975913 AI424886 BE790930 F04034 BM971404 AI076027 AL046760 AB015283 
    AA866036 AI149373 CN479966 Z44545 NM_130437 AI031728 AI391600 F12144 
    AA729988 AA932861 AI627548 AI190401 BF794263 AA306050 AA918140 Z45133 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for DYRK1A (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
    SP1:                                -                                                                                       
    SP2:                                                        -                                                     -         
    SP3:                                                                                                              -         
    SP4:                          -     -                       -                                                               
    SP5:                          -     -     -                 -                                                               


    ECgene alternative splicing isoforms for DYRK1A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DYRK1A expression in normal human tissues (normalized intensities)      DYRK1A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGGTCTTATG
    DYRK1A Expression
    About this image


    DYRK1A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Ventral Horn   
     
     Liver (Hepatobiliary System)
             Liver Bud
     
     Oral Cavity (Gastrointestinal Tract)
             TONGUE   

    See DYRK1A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DYRK1A

    SOURCE GeneReport for Unigene cluster: Hs.368240

    UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627
    Tissue specificity: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DYRK1A gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dyrk1a1 , 5 dual-specificity tyrosine-(Y)-phosphorylation regulated more1, 5 93.93(n)1
    99.21(a)1
      16 (55.30 cM)5
    135481  NM_007890.21  NP_031916.11 
     945700105 
    chicken
    (Gallus gallus)
    Aves DYRK1A1 dual-specificity tyrosine-(Y)-phosphorylation regulated more 88.89(n)
    97.61(a)
      395233  NM_204550.1  NP_989881.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYRK1A6
    dual-specificity tyrosine-(Y)-phosphorylation regu...
    98(a)
    1 ↔ 1
    3(140718560-140857690)
    African clawed frog
    (Xenopus laevis)
    Amphibia dyrk1a-prov2 dual-specificity tyrosine-(Y)-phosphorylation regulated more 79.47(n)    BC044104.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dyrk1ab1 dual-specificity tyrosine-(Y)-phosphorylation regulated more 75.73(n)
    84.12(a)
      327466  XM_002664610.2  XP_002664656.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mnb3 circadian rhythm protein
    serine/threonine kinase
    82(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea mbk-13 serine/threonine kinase (2 domains) 70(a)   X(14855249-14860148)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YAK16
    Serine-threonine protein kinase; component of a gl...
    18(a)
    1 → many
    X(147967-150390)
    rice
    (Oryza sativa)
    Liliopsida Os.143132 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 78.14(n)    AK068489.1 


    ENSEMBL Gene Tree for DYRK1A (if available)
    TreeFam Gene Tree for DYRK1A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DYRK1A gene
    DYRK22  DYRK32  HIPK12  DYRK42  HIPK32  HIPK42  HIPK22  DYRK1B2  
    15 SIMAP similar genes for DYRK1A using alignment to 4 protein entries:     DYR1A_HUMAN (see all proteins):
    MNB/DYRK    DYRK1B    NDUFA9    CDK7    DYRK4    MOK
    DYRK2    DYRK3    SRPK3    HIPK1    MAPK14    MARK4
    HIPK2    CDK4    ULK1

    DYRK1A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3142 SNPs in DYRK1A are shown (see all 3142)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0093954
    ----see VAR_0093952 Y F mis40--------
    VAR_0093964
    ----see VAR_0093962 Q H mis40--------
    rs739039281,2
    C,F--24213563(+) GGGTAG/AGGAGA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1929097601,2
    --24213590(+) GCCAGA/GATATT 1 -- us2k10--------
    rs1428076571,2
    --24213736(+) TTCCGA/CTGGAG 1 -- us2k10--------
    rs732039361,2
    C,F--24213773(+) GGAGAG/AGTTGG 1 -- us2k11Minor allele frequency- A:0.09NA 120
    rs1479533871,2
    C--24215031(+) GGGCG-/GGAGGAGG 1 -- us2k10--------
    rs1840995061,2
    --24215122(+) TGGTTA/GGTTTT 1 -- us2k10--------
    rs2007784671,2
    --24215123(+) GTTGG-/TTTTTT 1 -- us2k10--------
    rs1394829901,2
    --24215236(+) CTGCTA/GTCGCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DYRK1A (38739236 - 38887680 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for DYRK1A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1001034CNV Deletion20482838
    nsv834096CNV Loss17160897


    Human Gene Mutation Database (HGMD): DYRK1A
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600855    OMIM disorders: --

    UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627
  • Mental retardation, autosomal dominant 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. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 18 diseases for DYRK1A:    About MalaCards
    down syndrome    down syndrome critical region    pick's disease    microcephaly
    hypotonia    intellectual disability    alzheimer's disease    mental retardation
    herpes simplex    osteosarcoma    dementia    thyroiditis
    melanoma    lung cancer    pancreatitis    endotheliitis
    neuronitis    leukemia

    2 diseases from the University of Copenhagen DISEASES database for DYRK1A:
    Down syndrome     Intellectual disability

    DYRK1A for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    6 Novoseek inferred disease relationships for DYRK1A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 86 67 12618396 (4), 15694837 (3), 10812554 (3), 12814361 (2) (see all 33)
    mental retardation 71.7 8 15906374 (1), 16959772 (1), 9918863 (1), 11877424 (1) (see all 8)
    trisomy 45.4 7 11555628 (1), 16554754 (1), 19242551 (1)
    memory impairment 41.3 4 17696169 (1), 17536841 (1)
    alzheimers disease 37.6 8 19995442 (2), 18696092 (1), 17135279 (1), 19665384 (1) (see all 5)
    neuropathology 36.6 1 12618396 (1)

    Genetic Association Database (GAD): DYRK1A
    Human Genome Epidemiology (HuGE) Navigator: DYRK1A (2 documents)

    Export disorders for DYRK1A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DYRK1A gene, integrated from 9 sources (see all 180):
    (articles sorted by number of sources associating them with DYRK1A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome 'critical region'. (PubMed id 8975710)1, 2, 9 Song W.J....Kurnit D.W. (1996)
    2. DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. (PubMed id 19995442)1, 4, 9 VA!zquez-Higuera J.L....Combarros O. (2009)
    3. Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (PubMed id 10329007)1, 2, 9 Guimera J.... Pritchard M.A. (1999)
    4. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PubMed id 9284911)1, 3, 9 Guimera J....Estivill X. (1997)
    5. Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from 'the Down syndrome critical region' of chromosome 21. (PubMed id 8769099)1, 2, 9 Shindoh N....Shimizu N. (1996)
    6. A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. (PubMed id 8872470)1, 2, 9 Guimera J.... Pritchard M.A. (1996)
    7. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PubMed id 9037601)1, 2, 9 Ohira M....Ohki M. (1997)
    8. Genome-wide association study identifies single nucle otide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-d erived macrophages. (PubMed id 21364930)1, 4 Bol S.M....van 't Wout A.B. (2011)
    9. Intragenic deletion in DYRK1A leads to mental retarda tion and primary microcephaly. (PubMed id 21294719)1, 2 van Bon B.W....de Vries B.B. (2011)
    10. A genome-wide association study of the metabolic synd rome in Indian Asian men. (PubMed id 20694148)1, 4 Zabaneh D. and Balding D.J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1859 HGNC: 3091 AceView: DYRK1A Ensembl:ENSG00000157540 euGenes: HUgn1859
    ECgene: DYRK1A H-InvDB: DYRK1A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DYRK1A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for DYRK1A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DYRK1A gene:
    Search GeneIP for patents involving DYRK1A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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