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 YAK1-Related Kinase 3 4
- Protein Kinase Minibrain Homolog 3 4
- DYRK 3 4
- MNBH 3 4
- HP86 3 4
- MNB 3 4
- Dual-Specificity Tyrosine-(Y)-Phosphorylation Regulated Kinase 1A 2
- Dual Specificity Tyrosine-Phosphorylation-Regulated Kinase 1A 3
External Ids for DYRK1A Gene
- HGNC: 3091
- Entrez Gene: 1859
- Ensembl: ENSG00000157540
- OMIM: 600855
- UniProtKB: Q13627
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
-
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 Cell Cycle, Mitotic and T-Cell Receptor and Co-stimulatory Signaling. 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 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).
-
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.
Additional gene information for DYRK1A Gene
- Monarch Initiative
- Search for DYRK1A at DataMed
- Search for DYRK1A at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DYRK1A Gene
Genomics for DYRK1A Gene
GeneHancer (GH) Regulatory Elements for DYRK1A Gene
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 | 2.3 | EPDnew Ensembl ENCODE dbSUPER | 655.7 | +2.7 | 2682 | 7.1 | MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC MEF2D | DYRK1A GC21M037368 ENSG00000242553 VPS26C TTC3 LOC100288590 ENSG00000273210 | |
| GH21J037219 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 650.1 | -144.7 | -144668 | 2 | MLX ARNT ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 POLR2B | ENSG00000242553 DYRK1A TTC3 PIGP MORC3 RN7SL678P GC21P037206 DSCR9 | |
| GH21J037420 | Promoter/Enhancer | 1 | EPDnew dbSUPER | 650.2 | +54.7 | 54733 | 0.1 | ZNF148 ATF4 ZNF512 ZEB2 | DYRK1A GC21M037455 GC21P037381 GC21M037417 | |
| GH21J037464 | Promoter/Enhancer | 0.7 | EPDnew dbSUPER | 650.2 | +99.2 | 99153 | 0.1 | DYRK1A VPS26C GC21M037455 GC21P037474 GC21M037417 | ||
| GH21J037472 | Promoter | 0.6 | EPDnew | 650.1 | +107.1 | 107095 | 0.1 | SCRT2 | GC21P037474 DYRK1A GC21M037455 GC21M037417 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the DYRK1A gene promoter:
-
- AP-1
Regulatory Element Products
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:
-
- 21q22.13 by Entrez Gene
- 21q22.13 by HGNC
- 21q22.13 by Ensembl
DYRK1A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for DYRK1A Gene
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
Other Protein References for DYRK1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for DYRK1A (DYRK1A)
-
Custom Antibody ServicesOriGene Antibodies for DYRK1A
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-
Abcam antibodies for DYRK1A
- Invitrogen Antibodies for DYRK1A (AFLGC-DYRK1A)
- GeneTex DYRK1A Antibody for DYRK1A
-
Custom Antibody ServicesProSci Antibodies for DYRK1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for DYRK1A
Protein Products
-
OriGene Purified Proteins for DYRK1A
- Search Origene for MassSpec and Protein Over-expression Lysates for DYRK1A
- Origene Custom Protein Services for DYRK1A
- ProSpec Recombinant Proteins for DYRK1A
- Search GeneTex for Proteins for DYRK1A
-
Abcam proteins for DYRK1A
Assay Products
No data available for DME Specific Peptides for DYRK1A Gene
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
Protein Domains for DYRK1A Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for DYRK1A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q13627UniProtKB/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.
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:
- ATP + a protein = ADP + a phosphoprotein.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | TAS | -- |
| GO:0004674 | protein serine/threonine kinase activity | NAS | 28386764 |
| 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 |
Phenotypes for DYRK1A Gene
- MGI mutant phenotypes for DYRK1A:
-
inferred from 3 alleles
- cardiovascular system phenotype
- nervous system phenotype
- behavior/neurological phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- embryo phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for DYRK1A:
-
- Increased mitotic index
- Decreased substrate adherent cell growth
- Increased cell death HMECs cells
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Increased colony dispersion (increased number of colonies and decreased number of cells per colony)
- Decreased viability
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
- Decreased 12E8 tau but not total tau protein expression and decreased ratio of 12E8/total tau protein expression
- shRNA abundance <= 50%
- Increased viability
- Increased transferrin (TF) endocytosis
Animal Models for DYRK1A Gene
- MGI Knock Outs for DYRK1A:
-
- Dyrk1a Dyrk1a<tm1Mla>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for DYRK1A
-
CRISPR Products
-
OriGene CRISPR knockouts for DYRK1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DYRK1A
- genomics-online: gRNA clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
- Applied Biological Materials CRISPR for DYRK1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DYRK1A
- GenScript: Design CRISPR guide RNA sequences for DYRK1A
miRNA for DYRK1A Gene
- miRTarBase miRNAs that target DYRK1A
-
- hsa-mir-335-5p (MIRT017031)
- hsa-mir-215-5p (MIRT024657)
- hsa-mir-148a-3p (MIRT026006)
- hsa-mir-192-5p (MIRT026227)
- hsa-mir-324-5p (MIRT043199)
- hsa-mir-99b-5p (MIRT044178)
- hsa-mir-92a-3p (MIRT049774)
- hsa-mir-1246 (MIRT053774)
- hsa-mir-224-3p (MIRT085345)
- hsa-mir-522-3p (MIRT085346)
- hsa-mir-620 (MIRT085347)
- hsa-mir-2113 (MIRT085348)
- hsa-mir-298 (MIRT085349)
- hsa-mir-1270 (MIRT085350)
- hsa-mir-5680 (MIRT085353)
- hsa-mir-6880-5p (MIRT085355)
- hsa-mir-26a-5p (MIRT203408)
- hsa-mir-26b-5p (MIRT203409)
- hsa-mir-455-5p (MIRT203435)
- hsa-mir-2682-3p (MIRT351232)
- hsa-mir-6781-3p (MIRT351238)
- hsa-mir-6844 (MIRT507502)
- hsa-mir-3944-5p (MIRT507503)
- hsa-mir-143-5p (MIRT507504)
- hsa-mir-3165 (MIRT507505)
- hsa-mir-8071 (MIRT507506)
- hsa-mir-4683 (MIRT507507)
- hsa-mir-3152-5p (MIRT642124)
- hsa-mir-6836-3p (MIRT642125)
- hsa-mir-5692a (MIRT642126)
- hsa-mir-335-3p (MIRT668625)
- hsa-mir-30e-3p (MIRT668626)
- hsa-mir-30d-3p (MIRT668627)
- hsa-mir-30a-3p (MIRT668628)
- hsa-mir-550b-2-5p (MIRT668629)
- hsa-mir-3157-5p (MIRT668630)
- hsa-mir-550a-5p (MIRT668631)
- hsa-mir-550a-3-5p (MIRT668632)
- hsa-mir-1271-3p (MIRT668633)
- hsa-mir-3135a (MIRT668634)
- hsa-mir-4716-5p (MIRT668635)
- hsa-mir-5685 (MIRT668636)
- hsa-mir-4690-3p (MIRT668637)
- hsa-mir-7151-5p (MIRT668638)
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
Clone Products
-
OriGene ORF clones in human for DYRK1A
- RC212584
- RC212584L1
- RC212584L2
- RC212584L3
- RC212584L4
- RC213183
- RC213183L1
- RC213183L2
- RC213183L3
- RC213183L4
- RC213280
- RC213280L1
- RC213280L2
- RC213280L3
- RC213280L4
- RC215138
- RC215138L1
- RC215138L2
- RC215138L3
- RC215138L4
- RG212584
- RG213183
- RG213280
- RG215138
- RC212584L1V
- RC212584L2V
- RC212584L3V
- RC212584L4V
- RC213183L1V
- RC213183L2V
- RC213183L3V
- RC213183L4V
- RC213280L1V
- RC213280L2V
- RC213280L3V
- RC213280L4V
- RC215138L1V
- RC215138L2V
- RC215138L3V
- RC215138L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DYRK1A
- Addgene plasmids for DYRK1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DYRK1A
- Applied Biological Materials Clones for DYRK1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
- Cytosol (2)
- Nucleoli fibrillar center (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,ISS | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | TAS,IEA | 24327345 |
| GO:0005856 | colocalizes_with cytoskeleton | IEA,IDA | 24327345 |
| GO:0016607 | nuclear speck | TAS | 28377597 |
Pathways & Interactions for DYRK1A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cell Cycle, Mitotic |
.83
|
|
| 2 | Neuroscience | ||
| 3 | Notch signaling pathway (KEGG) | ||
| 4 | Cell cycle Cell cycle (generic schema) |
.31
|
|
| 5 | Mitotic G1-G1/S phases | ||
Pathways by source for DYRK1A Gene
2 BioSystems pathways for DYRK1A Gene
4 Reactome pathways for DYRK1A Gene
1 GeneGo (Thomson Reuters) pathway for DYRK1A Gene
1 R&D Systems pathway for DYRK1A Gene
1 Cell Signaling Technology pathway for DYRK1A Gene
Interacting Proteins for DYRK1A Gene
Selected Interacting proteins:
Q13627-DYR1A_HUMAN
ENSP00000381932
for DYRK1A Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DYRK1A
SIGNOR curated interactions 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 | -- |
Drugs & Compounds for DYRK1A Gene
| 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 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 | ||
| ID-8 | Pharma | 0 | ||||
| Harmine | Pharma | Potent and selective DYRK1A inhibitor | 1 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
|
(3) Tocris Compounds for DYRK1A Gene
Drug Products
Transcripts for DYRK1A Gene
mRNA/cDNA for DYRK1A Gene
- (16) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (287) Selected AceView cDNA sequences:
- (24) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000646523 2153 bps
- ENST00000647425 2737 bps
- ENST00000647504 5591 bps
- ENST00000644942 3137 bps
- ENST00000647188 2840 bps
Unigene Clusters for DYRK1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for DYRK1A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DYRK1A
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- Overview of 107 available DYRK1A gene related products
- Applied Biological Materials CRISPR for DYRK1A
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for DYRK1A
- GenScript: Design CRISPR guide RNA sequences for DYRK1A
miRNA Products
Inhibitory RNA Products
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYRK1A
- genomics-online: shRNA clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
Clone Products
-
OriGene ORF clones in human for DYRK1A
- RC212584
- RC212584L1
- RC212584L2
- RC212584L3
- RC212584L4
- RC213183
- RC213183L1
- RC213183L2
- RC213183L3
- RC213183L4
- RC213280
- RC213280L1
- RC213280L2
- RC213280L3
- RC213280L4
- RC215138
- RC215138L1
- RC215138L2
- RC215138L3
- RC215138L4
- RG212584
- RG213183
- RG213280
- RG215138
- RC212584L1V
- RC212584L2V
- RC212584L3V
- RC212584L4V
- RC213183L1V
- RC213183L2V
- RC213183L3V
- RC213183L4V
- RC213280L1V
- RC213280L2V
- RC213280L3V
- RC213280L4V
- RC215138L1V
- RC215138L2V
- RC215138L3V
- RC215138L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DYRK1A
- Addgene plasmids for DYRK1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DYRK1A
- Applied Biological Materials Clones for DYRK1A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: | - | - | - | - | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of DYRK1A Gene:
DYRK1ASOURCE GeneReport for Unigene cluster for DYRK1A Gene:
Hs.368240mRNA 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(4.4)
- Muscle(2.3)
- Blood(2.1)
- Heart(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
Primer Products
-
OriGene qPCR primer pairs for DYRK1A
- genomics-online: primer clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DYRK1A 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | DYRK1A 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DYRK1A 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DYRK1A 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | DYRK1A 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Dyrk1a 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Dyrk1a 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | DYRK1A 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | DYRK1A 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dyrk1a 33 |
|
||
| Str.507 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | dyrk1a-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dyrk1ab 34 |
|
OneToMany | |
| dyrk1aa 34 33 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | mnb 34 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | mbk-1 34 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YAK1 34 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os.14313 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1202 34 |
|
OneToMany | |
| Cin.4844 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4844 33 |
|
- Species where no ortholog for DYRK1A was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for DYRK1A: view image
Paralogs for DYRK1A Gene
Paralogs for DYRK1A Gene
(14) SIMAP similar genes for DYRK1A Gene using alignment to 4 proteins:
- DYR1A_HUMAN
- E7EMI5_HUMAN
- F8W9I9_HUMAN
- F8WAP0_HUMAN
Variants for DYRK1A Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1039571136 | likely-pathogenic, pathogenic, not provided, Mental retardation, autosomal dominant 7 | 37,490,442(+) | C/A/T | coding_sequence_variant, missense_variant | |
| rs1049764 | likely-benign, not specified, Mental retardation, autosomal dominant 7 | 37,478,234(+) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant | |
| rs1057175147 | uncertain-significance, Mental retardation, autosomal dominant 7 | 37,472,720(+) | G/A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs1057516030 | pathogenic, Mental retardation, autosomal dominant 7 | 37,480,786(+) | A/AA | coding_sequence_variant, genic_upstream_transcript_variant, stop_gained | |
| rs1057518204 | pathogenic, not provided, Mental retardation, autosomal dominant 7 | 37,480,659(+) | C/T | coding_sequence_variant, genic_upstream_transcript_variant, stop_gained |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYRK1A Gene
Disorders for DYRK1A Gene
(12) MalaCards diseases for DYRK1A Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 7 |
|
|
| intellectual disability syndrome due to a dyrk1a point mutation |
|
|
| microcephaly |
|
|
| seizure disorder |
|
|
| alacrima, achalasia, and mental retardation syndrome |
|
|
Search DYRK1A in MalaCards
View complete list of genes associated with diseases
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
No data available for Genatlas for DYRK1A Gene
Publications for DYRK1A Gene
- 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 22 58
- 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 22 44 58
- 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 22 58
- 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 22 58
- 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 22 58
Products for DYRK1A Gene
- R&D Systems Antibodies for DYRK1A (DYRK1A)
- Browse R&D Systems for Human Recombinant Proteins
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- Custom Antibody ServicesOriGene Antibodies for DYRK1A
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for DYRK1A
- Search Origene for MassSpec and Protein Over-expression Lysates for DYRK1A
- Origene Custom Protein Services for DYRK1A
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DYRK1A
- Browse OriGene Inhibitory RNA Products For DYRK1A
- OriGene qPCR primer pairs for DYRK1A
- OriGene CRISPR knockouts for DYRK1A
- OriGene ORF clones in human for DYRK1A
- RC212584
- RC212584L1
- RC212584L2
- RC212584L3
- RC212584L4
- RC213183
- RC213183L1
- RC213183L2
- RC213183L3
- RC213183L4
- RC213280
- RC213280L1
- RC213280L2
- RC213280L3
- RC213280L4
- RC215138
- RC215138L1
- RC215138L2
- RC215138L3
- RC215138L4
- RG212584
- RG213183
- RG213280
- RG215138
- RC212584L1V
- RC212584L2V
- RC212584L3V
- RC212584L4V
- RC213183L1V
- RC213183L2V
- RC213183L3V
- RC213183L4V
- RC213280L1V
- RC213280L2V
- RC213280L3V
- RC213280L4V
- RC215138L1V
- RC215138L2V
- RC215138L3V
- RC215138L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For DYRK1A
- GenScript: Next-day shipping of latest version cDNA ORF clones for DYRK1A in any vector
- GenScript Custom Purified and Recombinant Proteins Services for DYRK1A
- GenScript Custom Assay Services for DYRK1A
- GenScript Custom overexpressing Cell Line Services for DYRK1A
- GenScript: Design CRISPR guide RNA sequences for DYRK1A
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for DYRK1A
- Sino Biological Human cDNA Clone for DYRK1A
- Browse Sino Biological Recombinant Proteins
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- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for DYRK1A
- Novus Biologicals proteins and lysates for DYRK1A
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for DYRK1A
- Abcam proteins for DYRK1A
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- ProSpec Recombinant Proteins for DYRK1A
- Invitrogen Antibodies for DYRK1A (AFLGC-DYRK1A)
- Cyagen custom Knockout/knockin (KOKI) mouse models for DYRK1A
- Addgene plasmids for DYRK1A
- antibodies-online: Search results for 134 available DYRK1A Antibodies ranked by validation data
- Compare Top DYRK1A Antibodies
- antibodies-online: Search results for 8 available DYRK1A Elisa Kits ranked by validation data
- Compare Top DYRK1A Elisa Kits
- Recommended
- antibodies-online: Search results for 8 available DYRK1A Proteins ranked by validation data
- Compare Top DYRK1A Proteins
- GeneTex DYRK1A Antibody for DYRK1A
- Search GeneTex for Proteins for DYRK1A
- Santa Cruz Biotechnology (SCBT) Antibodies for DYRK1A
- Search Santa Cruz Biotechnology (SCBT) for DYRK1A siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for DYRK1A
- genomics-online: cdna clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
- orf clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
- genomics-online: gRNA clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
- genomics-online: primer clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
- genomics-online: shRNA clones - Search results for 107 available DYRK1A gene related products
- Overview of 107 available DYRK1A gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DYRK1A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DYRK1A
- GeneCopoeia miRNA 3'UTR Target clone products for DYRK1A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DYRK1A
Sources for DYRK1A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt