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Aliases for DYRK1A Gene

Aliases for DYRK1A Gene

  • Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A 2 3
  • Dual Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2 3 5
  • Dual Specificity YAK1-Related Kinase 3 4
  • Protein Kinase Minibrain Homolog 3 4
  • DYRK 3 4
  • MNBH 3 4
  • HP86 3 4
  • HMNB 3 4
  • MNB 3 4
  • Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2
  • 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
  • MRD7 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 Phosphorylation Regulated Kinase 1A) is a Protein Coding gene. Diseases associated with DYRK1A include mental retardation, autosomal dominant 7 and autosomal dominant non-syndromic intellectual disability. Among its related pathways are Cell Cycle, Mitotic and Notch Signaling Pathways. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is HIPK4.

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.

Tocris Summary for DYRK1A Gene

  • Dual-specificity tyrosine phosphorylation-regulated kinases (DYRKs) are conserved serine/threonine kinases. DYRKs have been implicated in cell survival, proliferation and differentiation, and in the pathology of Down Syndrome and Alzheimer's disease.

Gene Wiki entry for DYRK1A Gene

No data available for 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:

Genomic Location for DYRK1A Gene

Chromosome:
21
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

Genes around DYRK1A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DYRK1A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with human adenovirus 5 E1A protein (PubMed:23864635).

    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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

Domains & Families 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 :
  • The polyhistidine repeats act as targeting signals to nuclear speckles.
  • Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily.
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:0004712 protein serine/threonine/tyrosine kinase activity IEA --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IDA 9748265
GO:0043621 protein self-association ISS --
genes like me logo Genes that share ontologies with DYRK1A: view
genes like me logo Genes that share phenotypes with DYRK1A: view

Human Phenotype Ontology for DYRK1A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DYRK1A Gene

MGI Knock Outs for DYRK1A:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
cytosol 4
cytoskeleton 2

No data available for Gene Ontology (GO) - Cellular Components for DYRK1A Gene

Pathways & Interactions for DYRK1A Gene

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

Pathways by source 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

SIGNOR curated interactions for DYRK1A Gene

Activates:
Inactivates:
Is activated by:
Other effect:

Gene Ontology (GO) - Biological Process for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0018105 peptidyl-serine phosphorylation IEA --
GO:0018107 peptidyl-threonine phosphorylation ISS 20736167
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator ISS 20736167
GO:0046777 protein autophosphorylation ISS --
GO:0048025 negative regulation of mRNA splicing, via spliceosome IEA --
genes like me logo Genes that share ontologies with DYRK1A: view

Drugs & Compounds for DYRK1A Gene

(12) Drugs for DYRK1A Gene - From: HMDB, Tocris, ApexBio, Novoseek, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
N-(5-{[(2S)-4-amino-2-(3-chlorophenyl)butanoyl]amino}-1H-indazol-3-yl)benzamide Experimental Pharma Target 0
Harmine Experimental Pharma Potent and selective DYRK1A inhibitor 0
ID-8 Pharma 0

(7) Additional Compounds for DYRK1A Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
INDY
1169755-45-6
ProINDY
719277-30-2
TC-S 7004
1386979-55-0
TG 003
719277-26-6
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:

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

Protein differential expression in normal tissues from HIPED for DYRK1A Gene

This gene is overexpressed in Fetal Brain (10.8), Heart (10.1), Peripheral blood mononuclear cells (8.8), Placenta (8.0), and Fetal ovary (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DYRK1A: view

Protein tissue co-expression partners for DYRK1A Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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 36
  • 99 (a)
OneToOne
DYRK1A 35
  • 95.54 (n)
  • 99.61 (a)
dog
(Canis familiaris)
Mammalia DYRK1A 35
  • 96.51 (n)
  • 99.48 (a)
DYRK1A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dyrk1a 16
Dyrk1a 36
  • 99 (a)
OneToOne
Dyrk1a 35
  • 93.93 (n)
  • 99.21 (a)
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 36
  • 97 (a)
OneToOne
DYRK1A 35
  • 88.15 (n)
  • 96.42 (a)
lizard
(Anolis carolinensis)
Reptilia DYRK1A 36
  • 98 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia dyrk1a-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.507 35
dyrk1a 35
  • 83.85 (n)
  • 93.46 (a)
zebrafish
(Danio rerio)
Actinopterygii dyrk1ab 36
  • 84 (a)
OneToMany
dyrk1aa 36
  • 82 (a)
OneToMany
dyrk1aa 35
  • 72.44 (n)
  • 82.83 (a)
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

(14) 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
rs1049753 -- 37,472,718(+) TCTGT(C/T)CGGCT reference, synonymous-codon, utr-variant-5-prime
rs1049754 -- 37,472,733(+) CCGTC(A/G)TTTTC reference, synonymous-codon, utr-variant-5-prime
rs1049755 -- 37,472,736(+) TCATT(C/T)TCATT reference, synonymous-codon, utr-variant-5-prime
rs1049756 -- 37,472,768(+) GGCTG(C/G)ACAGA reference, missense
rs1049757 -- 37,472,781(+) CCCCA(C/T)TCACA reference, synonymous-codon

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

Variation tolerance for DYRK1A Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.88% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(17) MalaCards diseases for DYRK1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 7
  • mrd7
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
down syndrome
  • complete trisomy 21 syndrome
epilepsy, idiopathic generalized, suscpetibility to, 12
  • epilepsy, idiopathic generalized 12
mental retardation, autosomal recessive 48
  • mrt48
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for DYRK1A

Genetic Association Database (GAD)
DYRK1A
Human Genome Epidemiology (HuGE) Navigator
DYRK1A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DYRK1A
genes like me logo Genes that share disorders with DYRK1A: view

No data available for Genatlas for DYRK1A Gene

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 67
  2. 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
  3. Dyrk1A overexpression inhibits proliferation and induces premature neuronal differentiation of neural progenitor cells. (PMID: 20237271) Yabut O. … D'Arcangelo G. (J. Neurosci. 2010) 3 23
  4. DYRK1A and DYRK3 promote cell survival through phosphorylation and activation of SIRT1. (PMID: 20167603) Guo X. … Li X. (J. Biol. Chem. 2010) 3 23
  5. Green tea polyphenols rescue of brain defects induced by overexpression of DYRK1A. (PMID: 19242551) Guedj F. … Delabar J.M. (PLoS ONE 2009) 3 23

Products for DYRK1A Gene

Sources for DYRK1A Gene

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