Dyrk1a - dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1a Gene

中文名称：双特异性酪氨酸-(Y)-磷酸化调节激酶 1 a

种属: Mus musculus

同用名: mmb; Dyrk; Mnbh; Mp86; Gm10783; D16Ertd272e; D16Ertd493e; 2310043O08Rik

关于 Dyrk1a

功能概要

该基因编码的蛋白可启动多种功能，包括相同的蛋白质结合活性；蛋白质自缔合；和 tau 蛋白结合活性。参与多个过程，包括 DNA 损伤反应的负调控、p53 类介质的信号转导；微管聚合的负调控；和蛋白质磷酸化。通过剪接体和肽酰酪氨酸磷酸化作用于 mRNA 剪接的负调节上游或负调节内。位于多个细胞成分中，包括轴突；细胞骨架；和树突。核糖核蛋白复合物的一部分。以多种结构表达，包括消化系统；泌尿生殖系统；心;神经系统;和感觉器官。用于研究唐氏综合症。该基因的人类直系同源物与唐氏综合症有关；自闭症谱系障碍；常染色体显性非综合征性智力障碍 7；和智力障碍。与人类 DYRK1A（双重特异性酪氨酸磷酸化调节激酶 1A）同源。 [由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including identical protein binding activity; protein self-association; and Tau Protein binding activity. Involved in several processes, including negative regulation of DNA damage response, signal transduction by p53 class mediator; negative regulation of microtubule polymerization; and protein phosphorylation. Acts upstream of or within negative regulation of mRNA splicing, via spliceosome and peptidyl-tyrosine phosphorylation. Located in several cellular components, including axon; cytoskeleton; and dendrite. Part of ribonucleoprotein complex. Is expressed in several structures, including alimentary system; genitourinary system; heart; nervous system; and sensory organ. Used to study Down syndrome. Human ortholog(s) of this gene implicated in Down syndrome; autism spectrum disorder; autosomal dominant non-syndromic intellectual disability 7; and intellectual disability. Orthologous to human DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A). [provided by Alliance of Genome Resources, Apr 2022]