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Aliases for DYRK1A Gene

Aliases for DYRK1A Gene

  • Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2 3
  • MNBH 3 4 6
  • MNB 3 4 6
  • Dual Specificity YAK1-Related Kinase 3 4
  • Protein Kinase Minibrain Homolog 3 4
  • DYRK 3 4
  • MRD7 3 6
  • HP86 3 4
  • HMNB 3 4
  • Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A 3
  • Serine/Threonine-Specific Protein Kinase 3
  • Mnb Protein Kinase Homolog Hp86 3
  • Serine/Threonine Kinase MNB 3
  • MNB/DYRK Protein Kinase 3
  • EC 2.7.12.1 4
  • EC 2.7.12 63
  • DYRK1 3

External Ids for DYRK1A Gene

Previous HGNC Symbols for DYRK1A Gene

  • DYRK1
  • DYRK
  • MNBH

Previous GeneCards Identifiers for DYRK1A Gene

  • GC21P035317
  • GC21P037659
  • GC21P037712
  • GC21P037660
  • GC21P037661
  • GC21P038739
  • GC21P024215

Summaries for DYRK1A Gene

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 mental retardation, autosomal dominant 7 and down syndrome. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include protein serine/threonine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is DYRK1B.

UniProtKB/Swiss-Prot for DYRK1A Gene

  • May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates such as CRY2, FOXO1, SRSF6 and SIRT1. Exhibits a sugstrate preference for proline at position P+1 and arginine at position P-3.

Gene Wiki entry for DYRK1A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYRK1A Gene

Genomics for DYRK1A Gene

Regulatory Elements for DYRK1A Gene

Transcription factor binding sites by QIAGEN in the DYRK1A gene promoter:

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DYRK1A Gene

Start:
37,365,790 bp from pter
End:
37,517,450 bp from pter
Size:
151,661 bases
Orientation:
Plus strand

Genomic View for DYRK1A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DYRK1A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DYRK1A Gene

Proteins for DYRK1A Gene

  • Protein details for DYRK1A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13627-DYR1A_HUMAN
    Recommended name:
    Dual specificity tyrosine-phosphorylation-regulated kinase 1A
    Protein Accession:
    Q13627
    Secondary Accessions:
    • O60769
    • Q92582
    • Q92810
    • Q9UNM5

    Protein attributes for DYRK1A Gene

    Size:
    763 amino acids
    Molecular mass:
    85584 Da
    Quaternary structure:
    • Interacts RAD54L2/ARIP4. Interacts with CRY2 (By similarity). Interacts with RANBP9. Interacts with WDR68. Interacts with SRSF6.

    Three dimensional structures from OCA and Proteopedia for DYRK1A Gene

    Alternative splice isoforms for DYRK1A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DYRK1A Gene

Proteomics data for DYRK1A Gene at MOPED

Post-translational modifications for DYRK1A Gene

  • Autophosphorylated on numerous tyrosine residues. Can also autophosphorylate on serine and threonine residues (in vitro).
  • Ubiquitination at Lys304
  • Modification sites at PhosphoSitePlus

Other Protein References for DYRK1A Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for DYRK1A (DYRK1A)

Domains for DYRK1A Gene

Suggested Antigen Peptide Sequences for DYRK1A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13627

UniProtKB/Swiss-Prot:

DYR1A_HUMAN :
  • Q13627
Domain:
  • The polyhistidine repeats act as targeting signals to nuclear speckles.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
genes like me logo Genes that share domains with DYRK1A: view

Function for DYRK1A Gene

Molecular function for DYRK1A Gene

GENATLAS Biochemistry: 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
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by RANBP9. Inhibited by harmine, leucettamine B and leucettine L41.
UniProtKB/Swiss-Prot Function: May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Modulates alternative splicing by phosphorylating the splice factor SRSF6 (By similarity). Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates such as CRY2, FOXO1, SRSF6 and SIRT1. Exhibits a sugstrate preference for proline at position P+1 and arginine at position P-3.

Enzyme Numbers (IUBMB) for DYRK1A Gene

Gene Ontology (GO) - Molecular Function for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity TAS 8769099
GO:0004674 protein serine/threonine kinase activity ISS --
GO:0004712 protein serine/threonine/tyrosine kinase activity IEA --
GO:0004713 protein tyrosine kinase activity ISS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IDA 9748265
genes like me logo Genes that share ontologies with DYRK1A: view
genes like me logo Genes that share phenotypes with DYRK1A: view

Animal Models for DYRK1A Gene

MGI Knock Outs for DYRK1A:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DYRK1A

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for DYRK1A Gene

Localization for DYRK1A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYRK1A Gene

Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DYRK1A Gene COMPARTMENTS Subcellular localization image for DYRK1A gene
Compartment Confidence
nucleus 5
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0016607 nuclear speck ISS --
GO:0030529 ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with DYRK1A: view

Pathways for DYRK1A Gene

genes like me logo Genes that share pathways with DYRK1A: view

Pathways by source for DYRK1A Gene

1 Cell Signaling Technology pathway for DYRK1A Gene
1 BioSystems pathway for DYRK1A Gene
1 GeneGo (Thomson Reuters) pathway for DYRK1A Gene
1 R&D Systems pathway for DYRK1A Gene

Gene Ontology (GO) - Biological Process for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006468 protein phosphorylation ISS --
GO:0007399 nervous system development TAS 8769099
GO:0007623 circadian rhythm ISS --
genes like me logo Genes that share ontologies with DYRK1A: view

Compounds for DYRK1A Gene

(2) HMDB Compounds for DYRK1A Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(1) Drugbank Compounds for DYRK1A Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
N-(5-{[(2S)-4-amino-2-(3-chlorophenyl)butanoyl]amino}-1H-indazol-3-yl)benzamide
target

(10) Novoseek inferred chemical compound relationships for DYRK1A Gene

Compound -log(P) Hits PubMed IDs
threonine 63.7 6
serine 52.2 4
tyrosine 49.9 26
glycogen 40.2 1
phosphotyrosine 21.3 2
genes like me logo Genes that share compounds with DYRK1A: view

Transcripts for DYRK1A Gene

Unigene Clusters for DYRK1A Gene

Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DYRK1A

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DYRK1A

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DYRK1A Gene

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: - - - -
SP6: - - - - -

Relevant External Links for DYRK1A Gene

GeneLoc Exon Structure for
DYRK1A
ECgene alternative splicing isoforms for
DYRK1A

Expression for DYRK1A Gene

mRNA expression in normal human tissues for DYRK1A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DYRK1A Gene

SOURCE GeneReport for Unigene cluster for DYRK1A Gene Hs.368240

mRNA Expression by UniProt/SwissProt for DYRK1A Gene

Q13627-DYR1A_HUMAN
Tissue specificity: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney.
genes like me logo Genes that share expressions with DYRK1A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for DYRK1A Gene

Orthologs for DYRK1A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DYRK1A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYRK1A 35
  • 99.65 (n)
  • 100 (a)
DYRK1A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DYRK1A 35
  • 95.54 (n)
  • 99.61 (a)
DYRK1A 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DYRK1A 35
  • 96.51 (n)
  • 99.48 (a)
DYRK1A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dyrk1a 35
  • 93.93 (n)
  • 99.21 (a)
Dyrk1a 16
Dyrk1a 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DYRK1A 36
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DYRK1A 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dyrk1a 35
  • 94.28 (n)
  • 99.61 (a)
chicken
(Gallus gallus)
Aves DYRK1A 35
  • 88.15 (n)
  • 96.42 (a)
DYRK1A 36
  • 97 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYRK1A 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dyrk1a-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dyrk1a 35
  • 83.85 (n)
  • 93.46 (a)
Str.507 35
zebrafish
(Danio rerio)
Actinopterygii dyrk1aa 35
  • 72.44 (n)
  • 82.83 (a)
dyrk1aa 36
  • 82 (a)
OneToMany
dyrk1ab 36
  • 84 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mnb 36
  • 41 (a)
OneToMany
mnb 37
  • 82 (a)
worm
(Caenorhabditis elegans)
Secernentea mbk-1 36
  • 37 (a)
OneToMany
mbk-1 37
  • 70 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAK1 36
  • 21 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.14313 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4844 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1202 36
  • 79 (a)
OneToMany
Species with no ortholog for DYRK1A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DYRK1A Gene

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

Paralogs for DYRK1A Gene

Paralogs for DYRK1A Gene

Selected SIMAP similar genes for DYRK1A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with DYRK1A: view

Variants for DYRK1A Gene

Sequence variations from dbSNP and Humsavar for DYRK1A Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs7720 -- 37,514,903(+) TAAAC(C/T)GATAT utr-variant-3-prime
rs928763 -- 37,478,338(+) TTGCA(A/G)TATGT intron-variant
rs928764 -- 37,455,428(+) TAAAT(A/G)ATGGT intron-variant
rs1010265 -- 37,423,260(+) TCTTC(C/T)GAGCT intron-variant
rs1024294 -- 37,487,125(+) TGAAT(C/T)TCTAC intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DYRK1A Gene

Variant ID Type Subtype PubMed ID
nsv834096 CNV Loss 17160897
esv1001034 CNV Deletion 20482838

Relevant External Links for DYRK1A Gene

HapMap Linkage Disequilibrium report
DYRK1A
Human Gene Mutation Database (HGMD)
DYRK1A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYRK1A Gene

Disorders for DYRK1A Gene

(1) OMIM Diseases for DYRK1A Gene (600855)

UniProtKB/Swiss-Prot

DYR1A_HUMAN
  • 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 adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21294719}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DYRK1A Gene

(6) Novoseek inferred disease relationships for DYRK1A Gene

Disease -log(P) Hits PubMed IDs
down syndrome 86 52
mental retardation 71.7 8
trisomy 45.4 3
memory impairment 41.3 2
alzheimers disease 37.6 6

Relevant External Links for DYRK1A

Genetic Association Database (GAD)
DYRK1A
Human Genome Epidemiology (HuGE) Navigator
DYRK1A
genes like me logo Genes that share disorders with DYRK1A: view

Publications for DYRK1A Gene

  1. Isolation of human and murine homologues of the Drosophila minibrain gene: human homologue maps to 21q22.2 in the Down syndrome 'critical region'. (PMID: 8975710) Song W.J. … Kurnit D.W. (Genomics 1996) 3 4 23
  2. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PMID: 9037601) Ohira M. … Ohki M. (Genome Res. 1997) 3 4 23
  3. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PMID: 9284911) Guimera J. … Estivill X. (Cytogenet. Cell Genet. 1997) 2 3 23
  4. Cloning of a human homolog of the Drosophila minibrain/rat Dyrk gene from 'the Down syndrome critical region' of chromosome 21. (PMID: 8769099) Shindoh N. … Shimizu N. (Biochem. Biophys. Res. Commun. 1996) 3 4 23
  5. A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. (PMID: 8872470) Guimera J. … Pritchard M.A. (Hum. Mol. Genet. 1996) 3 4 23

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