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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]
DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A) is a Protein Coding gene. Diseases associated with DYRK1A include Mental Retardation, Autosomal Dominant 7 and Enophthalmos. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is DYRK1B.
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003713 | transcription coactivator activity | IBA | 21873635 |
GO:0003779 | actin binding | IPI | -- |
GO:0004672 | protein kinase activity | TAS | -- |
GO:0004674 | protein serine/threonine kinase activity | NAS | 28386764 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IDA,TAS | 24327345 |
GO:0005856 | colocalizes_with cytoskeleton | IDA | 24327345 |
GO:0005874 | microtubule | IPI | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell Cycle, Mitotic |
.83
|
|
2 | Neuroscience | ||
3 | Notch Signaling Pathway (WikiPathways) | ||
4 | Cell cycle Cell cycle (generic schema) |
.31
|
|
5 | Mitotic G1-G1/S phases |
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 | ISS | -- |
GO:0016032 | viral process | IEA | -- |
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 | 2 | ||
ATP | Investigational | Nutra | 0 | |||
ID-8 | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
ID-8 | 147591-46-6 |
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: | - | - | - | - | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DYRK1A 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DYRK1A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DYRK1A 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DYRK1A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DYRK1A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dyrk1a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dyrk1a 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DYRK1A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DYRK1A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dyrk1a 30 |
|
||
Str.507 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | dyrk1a-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dyrk1ab 31 |
|
OneToMany | |
dyrk1aa 30 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | mnb 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mbk-1 31 32 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YAK1 31 |
|
OneToMany | |
Rice (Oryza sativa) |
Liliopsida | Os.14313 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1202 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4844 30 |
|
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
81842 | Likely Benign: Mental retardation, autosomal dominant 7 | 37,486,485(+) |
C/T NM_001347721.2(DYRK1A):c.508C>T (p.Arg170Cys) |
MISSENSE | |
833538 | Likely Benign: Mental retardation, autosomal dominant 7 | 37,478,303(+) |
A/G NM_001347721.2(DYRK1A):c.300+3A>G |
INTRON | |
833541 | Likely Benign: Mental retardation, autosomal dominant 7 | 37,490,340(+) |
C/T NM_001347721.2(DYRK1A):c.803C>T (p.Ala268Val) |
MISSENSE | |
833620 | Likely Benign: Mental retardation, autosomal dominant 7 | 37,478,305(+) |
G/A NM_001347721.2(DYRK1A):c.300+5G>A |
INTRON | |
833626 | Benign: Mental retardation, autosomal dominant 7 | 37,511,904(+) |
C/A NM_001347721.2(DYRK1A):c.1645-7C>A |
INTRON |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
mental retardation, autosomal dominant 7 |
|
|
enophthalmos |
|
|
intellectual disability syndrome due to a dyrk1a point mutation |
|
|
non-specific syndromic intellectual disability |
|
|
microcephaly |
|
|