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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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PRKAR1A - Protein Kinase CAMP-dependent Type I Regulatory Subunit Alpha
Alias:
CAR
CNC
CNC1
PKR1
TSE1
ADOHR
PPNAD1
PRKAR1
ACRDYS1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
cAMP是一种重要的信号分子,参与多种细胞功能。cAMP通过激活cAMP依赖性蛋白激酶来发挥作用,该激酶通过不同靶蛋白的磷酸化传递信号。无活性的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导致无活性的全酶解离成结合四个cAMP的两个调节亚基和两个自由的单分子催化亚基的二聚体。在人类中已经发现了四种不同的调节亚基和三种催化亚基。这个基因编码一个调节亚基。这个蛋白质被发现是一种组织特异性的抑制剂,在肝癌细胞与成纤维细胞杂交中下调七个肝脏基因的表达。这个基因的突变导致Carney复合物(CNC)。这个基因可以通过基因重排与RET原癌基因融合,并形成甲状腺肿瘤特异性的称为PTC2的嵌合癌基因。这个蛋白质发现了一个非传统的核定位序列(NLS),这表明通过作为复制因子C(RFC40)的第二个亚基的核运输蛋白在DNA复制中发挥作用。已经观察到了编码两种不同异构体的几种可变剪接转录变异体。[RefSeq,2013年1月提供]
Related ID:
NCBI:5573
ENSEMBL:ENSG00000108946
HGNC:9388
UNIPROT:P10644
OMIM:188830
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
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Reference
5573
11
11
137694 bp
42.98
1103
11
10
45
PRKAR1A Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
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