Description: Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 3, mRNA. RefSeq Summary (NM_001396): 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]. Transcript (Including UTRs) Position: hg19 chr21:38,792,601-38,887,679 Size: 95,079 Total Exon Count: 11 Strand: + Coding Region Position: hg19 chr21:38,792,677-38,884,834 Size: 92,158 Coding Exon Count: 11
ID:DYR1A_HUMAN DESCRIPTION: RecName: Full=Dual specificity tyrosine-phosphorylation-regulated kinase 1A; EC=2.7.12.1; AltName: Full=Dual specificity YAK1-related kinase; AltName: Full=HP86; AltName: Full=Protein kinase minibrain homolog; Short=MNBH; Short=hMNB; FUNCTION: May play a role in a signaling pathway regulating nuclear functions of cell proliferation. Phosphorylates serine, threonine and tyrosine residues in its sequence and in exogenous substrates. CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein. ENZYME REGULATION: Inhibited by RANBP9. SUBUNIT: Interacts RAD54L2/ARIP4 (By similarity). Interacts with RANBP9. Interacts with WDR68. INTERACTION: P31946:YWHAB; NbExp=3; IntAct=EBI-1053621, EBI-359815; SUBCELLULAR LOCATION: Nucleus speckle. TISSUE SPECIFICITY: Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. DEVELOPMENTAL STAGE: Expressed in the developing central nervous system. Overexpressed 1.5-fold in fetal Down syndrome brain. DOMAIN: The polyhistidine repeats act as targeting signals to nuclear speckles (PubMed:19266028). PTM: Autophosphorylated on tyrosine residues. DISEASE: Defects in DYRK1A are the cause of mental retardation autosomal dominant type 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 adaptative behavior and manifested during the developmental period. SIMILARITY: Belongs to the protein kinase superfamily. CMGC Ser/Thr protein kinase family. MNB/DYRK subfamily. SIMILARITY: Contains 1 protein kinase domain.
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DYRK1A CDC HuGE Published Literature: DYRK1A Positive Disease Associations: HIV-1
, Waist-Hip Ratio Related Studies:
HIV-1 Sebastiaan M Bol et al. PloS one 2011, Genome-wide association study identifies single nucleotide polymorphism in DYRK1A associated with replication of HIV-1 in monocyte-derived macrophages., PloS one.
[PubMed 21364930]
These findings suggest that the kinase DYRK1A is involved in the replication of HIV-1, in vitro in macrophages as well as in vivo.
Waist-Hip Ratio Delilah Zabaneh et al. PloS one 2010, A genome-wide association study of the metabolic syndrome in Indian Asian men., PloS one.
[PubMed 20694148]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q13627
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0000381 regulation of alternative mRNA splicing, via spliceosome GO:0006468 protein phosphorylation GO:0007399 nervous system development GO:0007623 circadian rhythm GO:0016032 viral process GO:0016310 phosphorylation GO:0018105 peptidyl-serine phosphorylation GO:0018107 peptidyl-threonine phosphorylation GO:0018108 peptidyl-tyrosine phosphorylation GO:0031115 negative regulation of microtubule polymerization GO:0033120 positive regulation of RNA splicing GO:0034205 beta-amyloid formation GO:0036289 peptidyl-serine autophosphorylation GO:0038083 peptidyl-tyrosine autophosphorylation GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator GO:0046777 protein autophosphorylation GO:0048025 negative regulation of mRNA splicing, via spliceosome GO:0090312 positive regulation of protein deacetylation
US Server
