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 Microcephaly. Among its related pathways are Cell cycle Cell cycle (generic schema) and Neuroscience. 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
-
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 substrate preference for proline at position P+1 and arginine at position P-3.
-
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.
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
Enhancers for DYRK1A Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around DYRK1A on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the DYRK1A gene promoter:
Regulatory Element Products
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:
-
- 21q22.13 by Ensembl
- 21q22.13 by Entrez Gene
- 21q22.13 by HGNC
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. 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
Protein Expression 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
Other Protein References for DYRK1A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for DYRK1A
- R&D Systems Antibodies for DYRK1A (DYRK1A)
- Cell Signaling Technology (CST) Antibodies for DYRK1A (DYRK1A)
-
Custom Antibody ServicesOriGene Antibodies for DYRK1A
- Novus Biologicals Antibodies for DYRK1A
-
Cloud-Clone Corp. Antibodies for DYRK1A
- Invitrogen Antibodies for DYRK1A
- antibodies-online Antibodies for DYRK1A: See all 117
- GeneTex DYRK1A antibody for DYRK1A
-
St John's Laboratory Antibodies for DYRK1A
-
Custom Antibody ServicesProSci Antibodies for DYRK1A
-
Santa Cruz Biotechnology (SCBT) Antibodies for DYRK1A
Protein Products
- EMD Millipore Purified and/or Recombinant DYRK1A Protein
-
OriGene Purified Proteins for DYRK1A
- Search Origene for MassSpec and Protein Over-expression Lysates for DYRK1A
- Origene Custom Protein Services for DYRK1A
-
Cloud-Clone Corp. Proteins for DYRK1A
- antibodies-online Proteins for DYRK1A: See all 6
- Search antibodies-online for peptides
- Search GeneTex for Proteins for DYRK1A
Domains & Families for DYRK1A Gene
Gene Families for DYRK1A Gene
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.
- Contains 1 protein kinase domain.
- 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
- 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 substrate preference for proline at position P+1 and arginine at position P-3.
Enzyme Numbers (IUBMB) for DYRK1A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | TAS | -- |
| GO:0004674 | protein serine/threonine kinase activity | ISS,TAS | 20736167 |
| 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
- cellular phenotype
- mortality/aging
- behavior/neurological phenotype
- growth/size/body region phenotype
- nervous system phenotype
- immune system phenotype
- cardiovascular system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- liver/biliary system phenotype
- hematopoietic system phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for DYRK1A:
-
- Increased viability
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- Increased transferrin (TF) endocytosis
- Decreased viability after Maraba virus infection
- Decreased viability
- Decreased substrate adherent cell growth
- Increased cell death HMECs cells
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased mitotic index
- Decreased 12E8 tau but not total tau protein expression and decreased ratio of 12E8/total tau protein expression
- Increased colony dispersion (increased number of colonies and decreased number of cells per colony)
Animal Models for DYRK1A Gene
- MGI Knock Outs for 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
-
-
ViGene Biosciences lentiviral particle packaged cDNA for DYRK1A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DYRK1A gene
- Search ViGene Biosciences for DYRK1A
CRISPR Products
-
OriGene CRISPR knockouts 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
- Search ViGene Biosciences for DYRK1A
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for DYRK1A
- VectorBuilder custom plasmid, inducible vectors for DYRK1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DYRK1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for DYRK1A gene
-
ViGene Biosciences lentiviral particle packaged cDNA for DYRK1A gene
-
ViGene Biosciences ready-to-package AAV shRNAs for DYRK1A gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12303) for DYRK1A
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | ISS,TAS | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0016607 | nuclear speck | ISS | -- |
| GO:0030529 | intracellular ribonucleoprotein complex | IEA | -- |
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
1 Cell Signaling Technology pathway 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
Interacting Proteins for DYRK1A Gene
Selected Interacting proteins:
ENSP00000381932
Q13627-DYR1A_HUMAN
for DYRK1A Gene via
STRING
MINT
IID
UniProtKB
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 | ISS | -- |
| GO:0007399 | nervous system development | TAS | 8769099 |
| GO:0007623 | circadian rhythm | ISS | -- |
| GO:0016310 | phosphorylation | IEA | -- |
Drugs & Compounds for DYRK1A Gene
| 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 | ||
| ID-8 | Pharma | 0 | ||||
| Harmine | Pharma | Potent and selective DYRK1A inhibitor | 1 | |||
| INDY | Pharma | Dyrk1A and Dyrk1B inhibitor, selective, DYRK1A/B inhibitor | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist | 58-64-0 |
|
||
| AZ 191 |
|
1594092-37-1 |
|
|
||
| TC-S 7004 |
|
1386979-55-0 |
|
|
||
| TG 003 |
|
719277-26-6 |
|
|
(5) Tocris Compounds for DYRK1A Gene
| Compound | Action | Cas Number |
|---|---|---|
| AZ 191 | Potent DYRK1B inhibitor | 1594092-37-1 |
| Harmine | Potent and selective DYRK1A inhibitor | 442-51-3 |
| INDY | DYRK1A/B inhibitor | 1169755-45-6 |
| TC-S 7004 | Potent and selective DYRK1A/B inhibitor | 1386979-55-0 |
| TG 003 | Potent inhibitor of Clk-family kinases; also inhibits DYRK1A/B | 719277-26-6 |
(1) ApexBio Compounds for DYRK1A Gene
| Compound | Action | Cas Number |
|---|---|---|
| ID-8 | 147591-46-6 |
Drug Products
- ApexBio compounds for DYRK1A
Transcripts for DYRK1A Gene
mRNA/cDNA for DYRK1A Gene
- (20) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (287) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for DYRK1A Gene
CRISPR Products
-
OriGene CRISPR knockouts for DYRK1A
- GenScript: Design CRISPR guide RNA sequences for DYRK1A
miRNA Products
- Search ViGene Biosciences for DYRK1A
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for DYRK1A
- VectorBuilder custom plasmid, inducible vectors for DYRK1A
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DYRK1A
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-12303) for DYRK1A
| 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, PaxDb, 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.
Primer Products
-
OriGene qPCR primer pairs for DYRK1A
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 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | DYRK1A 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | DYRK1A 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | DYRK1A 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | DYRK1A 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Dyrk1a 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Dyrk1a 34 16 35 |
|
||
| chicken (Gallus gallus) |
Aves | DYRK1A 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | DYRK1A 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | dyrk1a 34 |
|
||
| Str.507 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | dyrk1a-prov 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | dyrk1ab 35 |
|
OneToMany | |
| dyrk1aa 34 35 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | mnb 36 35 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | mbk-1 36 35 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YAK1 35 |
|
OneToMany | |
| rice (Oryza sativa) |
Liliopsida | Os.14313 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.1202 35 |
|
OneToMany | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4844 34 |
|
- 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)
Paralogs for DYRK1A Gene
Paralogs for DYRK1A Gene
(14) SIMAP similar genes for DYRK1A Gene using alignment to 4 proteins:
Variants for DYRK1A Gene
| SNP ID | Clin | Chr 21 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs587776929 | Pathogenic | 37,472,815(+) | CAAAC(-/AT)AAGTG | reference, frameshift-variant | |
| rs587776930 | Pathogenic | 37,493,164(+) | ATGAG(A/G)TAAAT | splice-donor-variant | |
| rs724159948 | Pathogenic | 37,490,273(+) | ATTTC(C/T)GAGGG | upstream-variant-2KB, reference, stop-gained | |
| rs724159949 | Pathogenic | 37,486,563(+) | AAGTG(C/T)GACTT | intron-variant, upstream-variant-2KB, reference, stop-gained | |
| rs724159950 | Pathogenic | 37,486,571(+) | CTTCT(GAA/TGAG)CTCAT | intron-variant, upstream-variant-2KB, reference, frameshift-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv953362 | CNV | duplication | 24416366 |
| nsv834096 | CNV | loss | 17160897 |
| nsv1136635 | CNV | deletion | 24896259 |
| nsv1059823 | CNV | gain | 25217958 |
| esv3646991 | CNV | loss | 21293372 |
| esv3377435 | CNV | insertion | 20981092 |
| esv1001034 | CNV | deletion | 20482838 |
| dgv1271e212 | CNV | loss | 25503493 |
| dgv1270e212 | CNV | loss | 25503493 |
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
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DYRK1A Gene
Disorders for DYRK1A Gene
(15) MalaCards diseases for DYRK1A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal dominant 7 |
|
|
| microcephaly |
|
|
| intellectual disability syndrome due to a dyrk1a point mutation |
|
|
| intellectual disability |
|
|
| visual epilepsy |
|
|
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.
Relevant External Links for DYRK1A
No data available for Genatlas for DYRK1A Gene
Publications for DYRK1A Gene
- DYRK1A genetic variants are not linked to Alzheimer's disease in a Spanish case-control cohort. (PMID: 19995442) VA!zquez-Higuera J.L. … Combarros O. (BMC Med. Genet. 2009) 3 22 46 64
- Human minibrain homologue (MNBH/DYRK1): characterization, alternative splicing, differential tissue expression, and overexpression in Down syndrome. (PMID: 10329007) Guimera J. … Pritchard M.A. (Genomics 1999) 3 4 22 64
- 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 22 64
- 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 22 64
- 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 22 64
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Sources for DYRK1A Gene
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