UniProt Protein Function: | DYRK1A: a dual-specificity protein kinase of the DYRK family. Contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. May play a significant role in a pathway regulating cell proliferation and may be involved in brain development. Its gene is localized in the Down syndrome (DS) critical region of chromosome 21, and is a strong candidate gene for learning defects associated with Down syndrome. Overexpression in mice gives rise to neurological abnormalities similar to those observed in DS. Five splice-variant isoforms have been described. |
UniProt Protein Details: | Protein type:Protein kinase, dual-specificity (non-receptor); Protein kinase, CMGC; Kinase, protein; EC 2.7.12.2; CMGC group; DYRK family; Dyrk1 subfamily Chromosomal Location of Human Ortholog: 21q22.13 Cellular Component: nuclear speck; nucleoplasm; nucleus Molecular Function:non-membrane spanning protein tyrosine kinase activity; protein binding; protein kinase activity; protein self-association; protein serine/threonine kinase activity; protein-tyrosine kinase activity; tau protein binding Biological Process: circadian rhythm; negative regulation of DNA damage response, signal transduction by p53 class mediator; nervous system development; peptidyl-threonine phosphorylation; peptidyl-tyrosine phosphorylation; protein amino acid autophosphorylation; protein amino acid phosphorylation Disease: Mental Retardation, Autosomal Dominant 7 |
NCBI 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] |
UniProt Code: | Q13627 |
NCBI GenInfo Identifier: | 3219996 |
NCBI Gene ID: | 1859 |
NCBI Accession: | Q13627.2 |
UniProt Secondary Accession: | Q13627,O60769, Q92582, Q92810, Q9UNM5, |
UniProt Related Accession: | Q13627 |
Molecular Weight: | 66,099 Da |
NCBI Full Name: | Dual specificity tyrosine-phosphorylation-regulated kinase 1A |
NCBI Synonym Full Names: | dual specificity tyrosine phosphorylation regulated kinase 1A |
NCBI Official Symbol: | DYRK1A |
NCBI Official Synonym Symbols: | MNB; DYRK; HP86; MNBH; MRD7; DYRK1 |
NCBI Protein Information: | dual specificity tyrosine-phosphorylation-regulated kinase 1A |
UniProt Protein Name: | Dual specificity tyrosine-phosphorylation-regulated kinase 1A |
UniProt Synonym Protein Names: | Dual specificity YAK1-related kinase; HP86; Protein kinase minibrain homolog; MNBH; hMNB |
Protein Family: | Dual specificity tyrosine-phosphorylation-regulated kinase |
UniProt Gene Name: | DYRK1A |
UniProt Entry Name: | DYR1A_HUMAN |