Homo sapiens Protein: DYRK1A | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-3165.7 | ||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
Gene Symbol | DYRK1A | ||||||||||||||||||||||
Protein Name | dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A | ||||||||||||||||||||||
Synonyms | DYRK; DYRK1; HP86; MNB; MNBH; MRD7; | ||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||
Ensembl Protein | ENSP00000340373 | ||||||||||||||||||||||
InnateDB Gene | IDBG-3163 (DYRK1A) | ||||||||||||||||||||||
Protein Structure | |||||||||||||||||||||||
UniProt Annotation | |||||||||||||||||||||||
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. {ECO:0000250, ECO:0000269PubMed:20981014, ECO:0000269PubMed:23665168, ECO:0000269PubMed:8769099}. | ||||||||||||||||||||||
Subcellular Localization | Nucleus speckle. | ||||||||||||||||||||||
Disease Associations | 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:0000269PubMed:21294719}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||||||||||||||||
Tissue Specificity | Ubiquitous. Highest levels in skeletal muscle, testis, fetal lung and fetal kidney. {ECO:0000269PubMed:10329007, ECO:0000269PubMed:8769099, ECO:0000269PubMed:8872470, ECO:0000269PubMed:8975710}. | ||||||||||||||||||||||
Comments | |||||||||||||||||||||||
Interactions | |||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 71 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR000719
Protein kinase domain IPR001245 Serine-threonine/tyrosine-protein kinase catalytic domain IPR002290 Serine/threonine/dual specificity protein kinase, catalytic domain IPR011009 Protein kinase-like domain IPR020635 Tyrosine-protein kinase, catalytic domain |
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PFAM |
PF00069
PF07714 |
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PRINTS |
PR00109
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PIRSF | |||||||||||||||||||||||
SMART |
SM00220
SM00219 |
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TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | Q13627 | ||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q13627 | ||||||||||||||||||||||
TrEMBL | Q76N25 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 1859 | ||||||||||||||||||||||
UniGene | Hs.719974 | ||||||||||||||||||||||
RefSeq | NP_569120 | ||||||||||||||||||||||
HUGO | HGNC:3091 | ||||||||||||||||||||||
OMIM | 600855 | ||||||||||||||||||||||
CCDS | CCDS13653 | ||||||||||||||||||||||
HPRD | 09018 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AB015282 AB015283 AB015284 AF108830 AJ001870 AP001413 AP001421 AP001428 AP001437 D85759 D86550 HF584751 HF584752 U52373 U58496 | ||||||||||||||||||||||
GenPept | AAB18639 AAC50939 AAD31169 BAA12866 BAA13110 BAA33975 BAA33976 BAA33977 CAA05059 CCQ44048 CCQ44049 | ||||||||||||||||||||||