DYRK1A - dual specificity tyrosine phosphorylation regulated kinase 1A Gene
Also Known as MNB; DYRK; HP86; MNBH; MRD7; DYRK1
Species: Homo sapiens
About DYRK1A
This gene has 23 transcripts (splice variants), 236 orthologues, 12 paralogues and is associated with 4 phenotypes. Ubiquitous expression in bone marrow (RPKM 11.6), testis (RPKM 9.5) and 25 other tissues.
Summary
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 Products (18)
| mRNA | Protein | Name |
|---|---|---|
| XM_005260933.6 | XP_005260990.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X5 |
| XM_006723977.4 | XP_006724040.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X2 |
| NM_001396.5 | NP_001387.2 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 1 |
| XM_024452057.2 | XP_024307825.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X4 |
| XM_047440704.1 | XP_047296660.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1 |
| NM_130436.2 | NP_569120.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 |
| XM_047440701.1 | XP_047296657.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1 |
| NM_101395.2 | NP_567824.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 3 |
| XM_047440702.1 | XP_047296658.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1 |
| XM_047440706.1 | XP_047296662.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X3 |
| XM_047440703.1 | XP_047296659.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1 |
| NM_001347723.2 | NP_001334652.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 6 |
| NM_130437.2 | ||
| NM_001347721.2 | NP_001334650.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 |
| XM_047440705.1 | XP_047296661.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1 |
| NM_001347722.2 | NP_001334651.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 2 |
| NM_130438.2 | NP_569122.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform 5 |
| XM_047440700.1 | XP_047296656.1 | dual specificity tyrosine-phosphorylation-regulated kinase 1A isoform X1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables RNA polymerase II CTD heptapeptide repeat kinase activity |
IDA
IDA: Inferred from direct assay
|
25620562 | GOA |
| enables actin binding |
IPI
IPI: Inferred from physical interaction
|
24327345 | GOA |
| enables cytoskeletal protein binding |
IPI
IPI: Inferred from physical interaction
|
24327345 | GOA |
| enables histone H3T45 kinase activity |
IDA
IDA: Inferred from direct assay
|
24820035 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
23665168 | GOA |
| enables non-membrane spanning protein tyrosine kinase activity |
IDA
IDA: Inferred from direct assay
|
9748265 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
14500717 | GOA |
| enables protein serine kinase activity |
IDA
IDA: Inferred from direct assay
|
30773093 | GOA |
| enables protein serine/threonine kinase activity |
IGI
IGI: Inferred from genetic interaction
|
17906291 | GOA |
| enables tubulin binding |
IPI
IPI: Inferred from physical interaction
|
24327345 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in amyloid-beta formation |
IMP
IMP: Inferred from mutant phenotype
|
25556849 | GOA |
| involved in negative regulation of DNA methylation-dependent heterochromatin formation |
IDA
IDA: Inferred from direct assay
|
24820035 | GOA |
| involved in peptidyl-serine phosphorylation |
IGI
IGI: Inferred from genetic interaction
|
25556849 | GOA |
| involved in peptidyl-tyrosine autophosphorylation |
IDA
IDA: Inferred from direct assay
|
24327345 | GOA |
| acts upstream of or within peptidyl-tyrosine phosphorylation |
IDA
IDA: Inferred from direct assay
|
9748265 | GOA |
| involved in positive regulation of RNA splicing |
IDA
IDA: Inferred from direct assay
|
28377597 | GOA |
| Cellular Component GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| colocalizes with actin filament |
IPI
IPI: Inferred from physical interaction
|
24327345 | GOA |
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
15694837 | GOA |
| colocalizes with cytoskeleton |
IDA
IDA: Inferred from direct assay
|
24327345 | GOA |
| colocalizes with microtubule |
IPI
IPI: Inferred from physical interaction
|
24327345 | GOA |
| colocalizes with neurofilament |
IPI
IPI: Inferred from physical interaction
|
24327345 | GOA |
| is active in nucleus |
IDA
IDA: Inferred from direct assay
|
25620562 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
15694837 | GOA |
DYRK1A Protein Structure
Pkinase: Protein kinase domain (159 - 479)
- 0
- 200
- 400
- 600
- 763 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dual specificity tyrosine-phosphorylation-regulated kinase 1A |
|
|
DYRK1A Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
DYRK1A | Q13627 | IGF2BP2 | Homo sapiens | Q9Y6M1 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | IGF2BP1 | Homo sapiens | Q9NZI8 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | IGF2BP3 | Homo sapiens | O00425 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | KPRP | Homo sapiens | Q5T749 | 32296183 | |
|
Intra
|
DYRK1A | Q13627 | ELAVL2 | Homo sapiens | Q12926 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | FAM53C | Homo sapiens | Q9NYF3 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | FAM53C | Homo sapiens | Q9NYF3 | 35914814 | |
|
Intra
|
DYRK1A | Q13627 | FAM53C | Homo sapiens | Q9NYF3 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | TROAP | Homo sapiens | Q12815 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | TROAP | Homo sapiens | Q12815 | 26949739 | |
|
Intra
|
DYRK1A | Q13627 | TRIP12 | Homo sapiens | Q14669 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | DYNLL1 | Homo sapiens | P63167 | 35914814 | |
|
Intra
|
DYRK1A | Q13627 | DYNLL1 | Homo sapiens | P63167 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | DYNLL1 | Homo sapiens | P63167 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | TRAF2 | Homo sapiens | Q12933 | 35914814 | |
|
Intra
|
DYRK1A | Q13627 | DCAF7 | Homo sapiens | P61962 | 32707033 | |
|
Intra
|
DYRK1A | Q13627 | DCAF7 | Homo sapiens | P61962 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | DCAF7 | Homo sapiens | P61962 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | FMR1 | Homo sapiens | Q06787 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | RB1 | Homo sapiens | P06400 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | RB1 | Homo sapiens | P06400 | 32707033 | |
|
Intra
|
DYRK1A | Q13627 | RB1 | Homo sapiens | P06400 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | LZTS2 | Homo sapiens | Q9BRK4 | 26949739 | |
|
Intra
|
DYRK1A | Q13627 | LZTS2 | Homo sapiens | Q9BRK4 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | LZTS2 | Homo sapiens | Q9BRK4 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | SATB1 | Homo sapiens | Q01826 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | ELAVL3 | Homo sapiens | Q14576 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | ZMYND8 | Homo sapiens | Q9ULU4 | 36950384 | |
|
Intra
|
DYRK1A | Q13627 | USP54 | Homo sapiens | Q70EL1 | 35914814 | |
|
Intra
|
DYRK1A | Q13627 | RBL1 | Homo sapiens | P28749 | 32707033 | |
|
Intra
|
DYRK1A | Q13627 | RBL1 | Homo sapiens | P28749 | 23602568 | |
|
Intra
|
DYRK1A | Q13627 | RBL1 | Homo sapiens | P28749 | 23602568 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Alzheimer Disease, Familial, 1 |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
|
| Non-Specific Syndromic Intellectual Disability |
|
|
| Primary Microcephaly |
|
|
| Chromosomal Duplication Syndrome |
|
|
| Myeloproliferative Syndrome, Transient |
|
|
| Acute Dacryocystitis |
|
|
| Dyrk1a-Related Intellectual Disability Syndrome Due To 21q22.13q22.2 Microdeletion |
|
|
| Specific Developmental Disorder |
|
|
| Enophthalmos |
|
|
| Autism |
|
|
| Abdominal Obesity-Metabolic Syndrome 3 |
|
|
| Chromosomal Disease |
|
|
| Pick Disease Of Brain |
|
|
| Microcephaly |
|
|
| Male Urethral Cancer |
|
|
| Dyrk1a-Related Intellectual Disability Syndrome |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Congenital Nervous System Abnormality |
|
|
| Microphthalmia |
|
|
| Down Syndrome |
|
|
| Intellectual Disability Syndrome Due To A Dyrk1a Point Mutation |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | DYRK1A | MGD | MGI:1330299 |
| Bos taurus | DYRK1A | VGNC | VGNC:28279 |
| Macaca mulatta | DYRK1A | VGNC | VGNC:72015 |
| Canis familiaris | DYRK1A | VGNC | VGNC:40155 |
| Rattus norvegicus | DYRK1A | RGD | RGD:2528 |
| Felis catus | DYRK1A | VGNC | VGNC:61685 |
| Others | DYRK1A | NCBI |