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

DYRK1A Gene

protein-coding   GIFtS: 67
GCID: GC21P038739

dual-specificity tyrosine-(Y)-phosphorylation regulated...


(Previous symbols: DYRK1, DYRK, MNBH)
 Explore 16 diseases affiliated with
DYRK1A via
MalaCards
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 Human Malady Compendium 
Biological research products
for DYRK1A    

Aliases
for DYRK1A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 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
HMNB1     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


Summaries
for DYRK1A gene

(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:
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)

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

Gene Wiki entry for DYRK1A


Genomic Views
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 69), 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  NC_018932.1  NT_011512.11  
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

Proteins
for DYRK1A gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 (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

Post-translational modifications:

  • Autophosphorylated on tyrosine residues1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals DYRK1A Proteins
    Novus Biologicals DYRK1A Lysate
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    Uscn 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



    DYRK1A Antibody Products: 
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    Protein Domains /
    Families
    for DYRK1A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DYRK1A for domains           About GeneDecksing

    5 InterPro domains/families:
     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


    Function
    for DYRK1A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    hsa-miR-579 hsa-miR-193a-3p hsa-miR-106a hsa-miR-138-2* hsa-miR-519a hsa-miR-409-5p hsa-miR-298 hsa-miR-642b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    Clone
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity TAS8975710
    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


    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 

    Animal Models:
         Mouse knock-out Dyrk1atm1Mla for DYRK1A
         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


    Pathways & Interactions
    for DYRK1A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell Cycle
    		Cell Cycle1.00
    		Cell Cycle, Mitotic0.84
    2Development_CNTF receptor signaling
    		Translation _Regulation of EIF2 activity0.25
    		Translation Regulation activity of EIF20.25
    3Neuroscience
    		Neuroscience1.00
    4Hedgehog Signaling Pathway
    		Hedgehog Signaling Pathway1.00
    5G1/S Transition
    		Mitotic G1-G1/S phases0.80

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DYRK1A
        Translation Regulation activity of EIF2


    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)

    5/60 Interacting proteins for DYRK1A (Q136271, 2, 3 ENSP000003819324) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006468protein phosphorylation ISS--
    GO:0007399nervous system development TAS8769099
    GO:0018107peptidyl-threonine phosphorylation ISS--
    GO:0018108peptidyl-tyrosine phosphorylation ISS--


    DYRK1A for ontologies           About GeneDecksing



    Drugs & Compounds
    for DYRK1A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for DYRK1A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    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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    hsa-miR-579 hsa-miR-193a-3p hsa-miR-106a hsa-miR-138-2* hsa-miR-519a hsa-miR-409-5p hsa-miR-298 hsa-miR-642b
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    Additional cDNA 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.449194  DT.100791954  DT.92438592  DT.75101238  DT.121141919  DT.121141927  DT.92044861 
    DT.92438591 

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

    AU119258 AA887600 NM_101395 NM_001396 AI174919 CB134205 BF725582 AI621075 
    AA676749 NM_130438 Z45133 AI161262 AA918140 AA306050 AI190401 BF794263 
    AI627548 H19430 BC065184 BG028736 AW801818 AB015284 AI031728 AU139515 

    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

    Expression
    for DYRK1A gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGTCTTATG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DYRK1A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver BudLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    for DYRK1A gene

    (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 8/27 species (see all 27)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 97(a)
    		 1 ↔ 1
    		 3(140718560-140737131)
    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)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G031756
    AT2G401206
    (see all 5)    		 protein kinase-like protein
    (see all 5)    		 31(a)
    21(a)
    (see all 5)    		 possible ortholog
    possible ortholog
    (see all 5)    		 4(1402187-1402864)
    2(16754939-16757592)
    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
    for DYRK1A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DYRK1A gene
    DYRK32  DYRK22  HIPK12  DYRK42  HIPK32  HIPK42  HIPK22  DYRK1B2  
    16 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    CLK1

    DYRK1A for paralogs           About GeneDecksing



    Genomic Variants
    for DYRK1A gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2632 NCBI SNPs in DYRK1A are shown (see all 2632)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs739039281,2
    		C,--24213563(+) GGGTAG/AGGAGA 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs732039361,2
    		C,F,--24213773(+) GGAGAG/AGTTGG 1 -- us2k11Minor allele frequency- A:0.09NA 120
    rs765624291,2
    		F,--24216405(+) TCCTCC/TCTAAT 1 -- int11Minor allele frequency- T:0.02WA 118
    rs764080581,2
    		F,--24216528(+) ATGCTA/GGCACC 1 -- int11Minor allele frequency- G:0.04WA 118
    rs779718581,2
    		F,--24217286(+) ATATTG/CTTTTC 1 -- int11Minor allele frequency- C:0.02WA 118
    rs557520731,2
    		C,F,--24217349(+) TTTAAG/ACTGCA 1 -- int11Minor allele frequency- A:0.09NA 120
    rs732140911,2
    		C,F,--24217427(+) TACTTC/GAGGTA 1 -- int11Minor allele frequency- G:0.04NA 120
    rs559047121,2
    		C,F,--24217881(+) GATATC/GTAAAA 1 -- int11Minor allele frequency- G:0.09NA 120
    rs796195621,2
    		F,--24218110(+) AACAAT/CGTATT 1 -- int11Minor allele frequency- C:0.14NA 120
    rs117013861,2
    		C,F,H,--24219137(+) AAAGCT/CTTTTG 1 -- int11Minor allele frequency- C:0.09NA 120

    HapMap Linkage Disequilibrium report for DYRK1A (38739236 - 38887680 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DYRK1A: --
    Human Gene Mutation Database (HGMD): DYRK1A

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    Disorders / Diseases
    for DYRK1A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DYRK1A for disorders           About GeneDecksing

    OMIM gene information: 600855    OMIM disorders: --

    UniProtKB/Swiss-Prot: DYR1A_HUMAN, Q13627
  • 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

    16 diseases for DYRK1A:    About MalaCards
    down syndrome critical region    down syndrome    intellectual disability    herpes simplex
    pick's disease    alzheimer's disease    neurodegenerative disease    microcephaly
    hypotonia    osteosarcoma    lung cancer    thyroiditis
    melanoma    pancreatitis    malaria    neuronitis

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

    6 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: DYRK1A (2 documents)

    Export disorders for DYRK1A gene to outside databases

    Publications
    for DYRK1A gene

    (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 171):
    (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. 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)
    3. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PubMed id 9284911)1, 3, 9 Guimera J....Estivill X. (1997)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)
    9. Phosphorylation of Ser640 in muscle glycogen synthase by DYRK family protein kinases. (PubMed id 14593110)1, 2 Skurat A.V. and Dietrich A.D. (2004)
    10. Serine/threonine kinase Mirk/Dyrk1B is an inhibitor of epithelial cell migration and is negatively regulated by the Met adaptor Ran- binding protein M. (PubMed id 14500717)1, 2 Zou Y.... Friedman E. (2003)

    External Searches for DYRK1A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DYRK1A gene

    (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

    Other Databases showing DYRK1A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DYRK1A gene

    (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

    Intellectual Property
    for DYRK1A gene

    (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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