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 ... See more...

Aliases for DYRK1A Gene

Aliases for DYRK1A Gene

  • Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A 2 3 5
  • Dual Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2 3
  • Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A 3 4
  • Dual Specificity YAK1-Related Kinase 3 4
  • Protein Kinase Minibrain Homolog 3 4
  • DYRK 3 4
  • HP86 3 4
  • MNBH 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 51
  • DYRK1A 5
  • DYRK1 3
  • MRD7 3
  • HMNB 4

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 Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation. Among its related pathways are Neuroscience and Cell cycle Cell cycle (generic schema). Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is DYRK1B.

UniProtKB/Swiss-Prot Summary for DYRK1A Gene

  • Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. 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). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity).

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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYRK1A Gene

Genomics for DYRK1A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DYRK1A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J037364 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.6 +2.7 2682 7.1 CEBPG SP1 CREB1 HNRNPL TEAD4 PRDM10 ZNF629 TFE3 RFX1 LEF1 DYRK1A ENSG00000273210 ENSG00000287637 lnc-VPS26C-3 ENSG00000242553 VPS26C TTC3 ENSG00000270835 LOC105372798
GH21J037219 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.1 -144.2 -144172 3.2 SP1 TFE3 IKZF1 NFKBIZ CTCF POLR2A BACH1 TARDBP JUND ETV6 ENSG00000242553 DYRK1A PIGP TTC3 MORC3 RF00017-3708 lnc-TTC3-3 RN7SL678P DSCR9 VPS26C
GH21J037468 Promoter/Enhancer 0.8 EPDnew Ensembl 600.1 +105.4 105428 4.8 PRDM10 ZNF341 SCRT2 RBM22 ZNF664 ZNF350 DYRK1A ENSG00000242553 VPS26C lnc-TTC3-8 lnc-KCNJ6-6 LOC105372798
GH21J037420 Promoter/Enhancer 0.8 EPDnew dbSUPER 600.2 +54.7 54733 0.1 ZNF512 ATF4 ATF3 ZEB2 ZNF148 DYRK1A lnc-KCNJ6-6 lnc-TTC3-6 LOC105372798
GH21J037464 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.2 +99.2 99153 0.1 DYRK1A VPS26C lnc-TTC3-8 lnc-KCNJ6-6 LOC105372798
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYRK1A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DYRK1A

Top Transcription factor binding sites by QIAGEN in the DYRK1A gene promoter:
  • AP-1

Genomic Locations for DYRK1A Gene

Genomic Locations for DYRK1A Gene
chr21:37,365,573-37,526,358
(GRCh38/hg38)
Size:
160,786 bases
Orientation:
Plus strand
chr21:38,738,092-38,889,753
(GRCh37/hg19)
Size:
151,662 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 (By similarity). Interacts with CRY2 (By similarity). Interacts with RANBP9 (PubMed:14500717). Interacts with WDR68 (PubMed:14593110). Interacts with SRSF6 (PubMed:22767602). Interacts with SIRT1 (By similarity).
    • (Microbial infection) 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

Selected DME Specific Peptides for DYRK1A Gene

Q13627:
  • QYSDRRQ
  • SHHSMTSLSSSTTSSSTSSSSTGNQGNQAYQNRPVAANTL
  • HDTEMKYYIVHLK
  • AMDCETHSPQVRQQFP
  • YDLAIDMWSLGCILVEMHTGEPLFSG
  • ALQHSFF
  • WMDRYEIDSLIGK
  • PYYALQH
  • DQIQQPL
  • SNPRQETGI
  • FRGVSLNLTRK
  • IVEVLGIPPA
  • EYKPPGTRKLHN
  • LSYNLYDLLRNT
  • EAPTQVT
  • NEVDQMNKIVEVLG
  • DLIKTYKHIN
  • IGKGSFGQV
  • NPKRSAIKI
  • QAPKARK
  • ETHPVQETTFHV

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

Domains & Families for DYRK1A Gene

Gene Families for DYRK1A Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DYRK1A Gene

GenScript: Design optimal peptide antigens:
  • Protein kinase minibrain homolog (DYR1A_HUMAN)

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.
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

UniProtKB/Swiss-Prot Function:
Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. 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). Exhibits a substrate preference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates the apoptotic process. Promotes cell survival upon genotoxic stress through phosphorylation of SIRT1. This in turn inhibits TP53 activity and apoptosis (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence={ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:22998443, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:24239188};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence={ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:22998443, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:24239188};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.12.1; Evidence={ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:22998443, ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:24239188};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by RANBP9 (PubMed:14500717). Inhibited by harmine, leucettamine B and leucettine L41 (PubMed:22998443).
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

Enzyme Numbers (IUBMB) for DYRK1A Gene

Phenotypes From GWAS Catalog for DYRK1A Gene

Gene Ontology (GO) - Molecular Function for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003713 transcription coactivator activity IBA 21873635
GO:0004672 protein kinase activity TAS --
GO:0004674 protein serine/threonine kinase activity NAS 28386764
GO:0004712 protein serine/threonine/tyrosine kinase activity IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYRK1A

Clone 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. Nucleus speckle.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DYRK1A gene
Compartment Confidence
nucleus 5
cytosol 4
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DYRK1A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,TAS 24327345
GO:0005856 colocalizes_with cytoskeleton IEA,IDA 24327345
GO:0016607 nuclear speck TAS 28377597
genes like me logo Genes that share ontologies with DYRK1A: view

Pathways & Interactions for DYRK1A Gene

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

Pathways by source for DYRK1A Gene

1 GeneGo (Thomson Reuters) pathway for DYRK1A Gene
  • Translation Regulation of EIF2 activity
1 R&D Systems pathway for DYRK1A Gene
1 Cell Signaling Technology 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:0000381 regulation of alternative mRNA splicing, via spliceosome IEA --
GO:0006468 protein phosphorylation TAS 24327345
GO:0007399 nervous system development TAS 8769099
GO:0007623 circadian rhythm IEA,ISS --
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with DYRK1A: view

Drugs & Compounds for DYRK1A Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 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 1
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0
ID-8 Pharma 0

(3) Additional Compounds for DYRK1A Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0

(3) Tocris Compounds for DYRK1A Gene

Compound Action Cas Number
Harmine Potent and selective DYRK1A inhibitor 442-51-3
INDY DYRK1A/B inhibitor 1169755-45-6
ProINDY DYRK1A/B inhibitor; prodrug of INDY (Cat. No. 4997) 719277-30-2

(1) ApexBio Compounds for DYRK1A Gene

Compound Action Cas Number
ID-8 147591-46-6
genes like me logo Genes that share compounds with DYRK1A: view

Drug Products

Transcripts for DYRK1A Gene

mRNA/cDNA for DYRK1A Gene

8 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYRK1A

Clone 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

Expression for DYRK1A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for DYRK1A Gene



Protein tissue co-expression partners for DYRK1A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DYRK1A

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.

Evidence on tissue expression from TISSUES for DYRK1A Gene

  • Nervous system(4.9)
  • Liver(4.5)
  • Muscle(2.9)
  • Skin(2.8)
  • Kidney(2.7)
  • Heart(2.7)
  • Blood(2.7)
  • Intestine(2.7)
  • Bone marrow(2.5)
  • Pancreas(2.4)
  • Thyroid gland(2.3)
  • Adrenal gland(2.2)
  • Spleen(2.2)
  • Lung(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DYRK1A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • heart
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
Pelvis:
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with DYRK1A: view

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 30 31
  • 99.65 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DYRK1A 31
  • 99 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DYRK1A 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DYRK1A 30 31
  • 96.51 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DYRK1A 30 31
  • 95.54 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dyrk1a 30
  • 94.28 (n)
Mouse
(Mus musculus)
Mammalia Dyrk1a 30 17 31
  • 93.93 (n)
OneToOne
Chicken
(Gallus gallus)
Aves DYRK1A 30 31
  • 88.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DYRK1A 31
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dyrk1a 30
  • 83.85 (n)
Str.507 30
African clawed frog
(Xenopus laevis)
Amphibia dyrk1a-prov 30
Zebrafish
(Danio rerio)
Actinopterygii dyrk1ab 31
  • 84 (a)
OneToMany
dyrk1aa 30 31
  • 72.44 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta mnb 31 32
  • 41 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea mbk-1 31 32
  • 37 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAK1 31
  • 21 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os.14313 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1202 31
  • 79 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4844 30
Species where no ortholog for DYRK1A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for DYRK1A: view image

Paralogs for DYRK1A Gene

(14) SIMAP similar genes for DYRK1A Gene using alignment to 4 proteins:

  • DYR1A_HUMAN
  • E7EMI5_HUMAN
  • F8W9I9_HUMAN
  • F8WAP0_HUMAN
genes like me logo Genes that share paralogs with DYRK1A: view

Variants for DYRK1A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DYRK1A Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
641739 Uncertain Significance: Mental retardation, autosomal dominant 7 37,512,364(+) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
641967 Uncertain Significance: Mental retardation, autosomal dominant 7 37,506,161(+) CA/C FRAMESHIFT_VARIANT,INTRON_VARIANT
651500 Uncertain Significance: Mental retardation, autosomal dominant 7 37,472,842(+) T/C MISSENSE_VARIANT
655610 Likely Pathogenic: Mental retardation, autosomal dominant 7 37,480,821(+) G/A MISSENSE_VARIANT
656015 Uncertain Significance: Mental retardation, autosomal dominant 7 37,478,227(+) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DYRK1A Gene

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

Variant ID Type Subtype PubMed ID
dgv1270e212 CNV loss 25503493
dgv1271e212 CNV loss 25503493
esv1001034 CNV deletion 20482838
esv3377435 CNV insertion 20981092
esv3646991 CNV loss 21293372
nsv1059823 CNV gain 25217958
nsv1136635 CNV deletion 24896259
nsv834096 CNV loss 17160897
nsv953362 CNV duplication 24416366

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)

Additional Variant Information for DYRK1A Gene

Human Gene Mutation Database (HGMD)
DYRK1A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DYRK1A

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

Disorders for DYRK1A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mental retardation, autosomal dominant 7
  • mrd7
intellectual disability syndrome due to a dyrk1a point mutation
  • dyrk1a-related intellectual disability syndrome due to a point mutation
microphthalmia
  • microphthalmos
microcephaly
  • microcephalus
alacrima, achalasia, and mental retardation syndrome
  • aamr
- 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, ECO:0000269 PubMed:23160955}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DYRK1A

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

No data available for Genatlas for DYRK1A Gene

Publications for DYRK1A Gene

  1. DYRK1A and DYRK3 promote cell survival through phosphorylation and activation of SIRT1. (PMID: 20167603) Guo X … Li X (The Journal of biological chemistry 2010) 3 4 23
  2. DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. (PMID: 19995442) Vázquez-Higuera JL … Combarros O (BMC medical genetics 2009) 3 23 41
  3. Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (PMID: 10329007) Guimera J … Pritchard M (Genomics 1999) 3 4 23
  4. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PMID: 9037601) Ohira M … Ohki M (Genome research 1997) 3 4 23
  5. Minibrain (MNBH) is a single copy gene mapping to human chromosome 21q22.2. (PMID: 9284911) Guimera J … Estivill X (Cytogenetics and cell genetics 1997) 2 3 23

Products for DYRK1A Gene

Sources for DYRK1A Gene