菜单 基因医生

camp是一种重要的细胞功能信号分子。camp通过激活camp依赖性蛋白激酶发挥其作用,后者通过不同靶蛋白的磷酸化来传递信号。失活激酶全酶是由两个调节亚基和两个催化亚基组成的四聚体。camp导致失活的全酶分解成一个二聚体的调控亚基,与四个camp和两个游离的单体催化亚基结合。四种不同的调节亚基和三种催化亚基已经在人类中被鉴定出来。这个基因编码一个调节亚单位。这种蛋白被发现是一种组织特异性的灭火剂,可以下调肝癌x成纤维细胞杂种中7个肝基因的表达。这个基因的突变引起卡尼复合体(cnc)。该基因通过基因重排与ret原癌基因融合,形成甲状腺肿瘤特异性嵌合癌基因ptc2。已发现该蛋白的一个非常规核定位序列(nls),这表明该蛋白作为复制因子c(rfc40)第二亚单位的核转运蛋白在dna复制中起作用。已观察到编码两种不同亚型的选择性剪接转录变体。[由RefSeq提供,2013年1月]
cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]

基因名:PRKAR1A
别名:CAR,CNC,CNC1,PKR1,TSE1,ADOHR,PPNAD1,PRKAR1,ACRDYS1
基因ID:5573
Chromosome:
(GRCh37)
17 Start: 66507921 End: 66547457 Strand: 
信号通路: 细胞增殖  炎症相关  凋亡抑制 
PRKAR1A 基因突变与药物