ADAR (adenosine deaminase RNA specific)

symbol:
ADAR
locus group:
protein-coding gene
location:
1q21.3
gene_family:
alias symbol:
ADAR1|DRADA
alias name:
Double-stranded RNA-specific adeno…
entrez id:
103
ensembl gene id:
ENSG00000160710
ucsc gene id:
uc001ffh.4
refseq accession:
NM_001111
hgnc_id:
HGNC:225
approved reserved:
1995-12-12
1q21.3
基因染色体位置图

ADAR(Adenosine Deaminase Acting on RNA)基因编码一种RNA编辑酶,属于ADAR基因家族,该家族还包括ADARB1和ADARB2。ADAR家族成员均具有双链RNA结合域和脱氨酶活性域,能够催化RNA分子中腺苷(A)到肌苷(I)的编辑,这一过程在转录后调控中起关键作用。ADAR主要在神经系统和免疫系统中表达,其编辑活动对维持正常生理功能至关重要。ADAR通过编辑作用影响RNA的稳定性、剪接模式和翻译效率,尤其在神经递质受体(如谷氨酸受体)和离子通道的RNA编辑中发挥核心作用,从而调控神经信号的传递和可塑性。ADAR基因突变可能导致编辑功能异常,与多种疾病相关,如肌萎缩侧索硬化症(ALS)、癫痫、自闭症谱系障碍和自身免疫性疾病如Aicardi-Goutières综合征。ADAR1的突变还可能导致严重的先天性免疫失调。ADAR过表达可能导致过度编辑,破坏正常的RNA功能,影响神经递质平衡,甚至促进肿瘤发生。相反,ADAR表达降低可能导致编辑不足,引发异常的免疫反应或神经功能障碍。在免疫系统中,ADAR1通过编辑内源性RNA防止其被免疫系统误认为外源RNA,从而避免自身免疫反应。ADAR家族成员的共性在于它们都能识别双链RNA结构并进行A-to-I编辑,但不同成员具有组织特异性表达和底物偏好性。ADAR的功能异常不仅影响单个基因的表达,还可能通过改变RNA编辑网络全局性地影响细胞功能。

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]

这个基因编码负责由腺苷的位点特异性脱氨RNA编辑的酶。这种酶去稳定通过腺苷转化为肌苷的双链RNA。在这种基因突变与色素异常症遗传性对称性相关联。选择性剪接结果在多个抄本变形。 [由RefSeq的,2010年7月提供]

ADAR基因的碱基序列:[NCBI]
Loading Gene Browser...
ADAR基因的碱基突变:           仅显示部分snp
rs9616       rs14002       rs16361       rs884617       rs884618       rs903321       rs903323       rs903324       rs962242       rs962243       rs1007839       rs1127309       rs1127310       rs1127311       rs1127313       rs1127314       rs1127317      

ADAR基因在不同组织中的表达:    [UniProt]

基因在不同组织中的表达图
正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
TTGATTCCCGACTGAAGGG
59
TAGCCTTGAAATGGATGGGT
59
CAAAGACACTCCCTCTCAC
58
GTTAGTCAGAGTGTTGAAGCA
58
TGATTGGAAAGCAGACACC
58
TACTCAGTTCCTGCCTCTG
58
AATCTGTCACATTGGGTTACC
58
CACTCCCATCTCTTGTCAC
58
CCCAAACAAGGAAAGCTCC
59
GATTCCACAGGGATTGTGC
59
CCTCAGCGGATACTACACC
59
CTGGTACCTGAGCTGTCTG
60
ACCAGACCATTGATTCCCG
60
AATGGATGGGTGTAGTATCCG
60
AATCTGTCACATTGGGTTACC
58
CACTCCCATCTCTTGTCAC
57
TTTCACAGAGCTCCCTCTC
59
GTTAGTCAGAGTGTTGAAGCA
58
ATGACCTGGAGATCCTGGA
59
GGGACAATTCATTCCGTGG
59
      尚未收录相关数据

ADAR基因(以及对应的蛋白质)的细胞分布位置:

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

ADAR基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0003723
H0YCK3 (UniProtKB)
IEA
GO:0003726
H0YCK3 (UniProtKB)
IEA
GO:0005634
H0YCK3 (UniProtKB)
IDA
GO:0005654
H0YCK3 (UniProtKB)
IDA
GO:0005730
H0YCK3 (UniProtKB)
IDA
GO:0006396
H0YCK3 (UniProtKB)
IEA
GO:0001649
P55265 (UniProtKB)
IEA
GO:0001701
P55265 (UniProtKB)
IEA
GO:0002244
P55265 (UniProtKB)
IEA
GO:0002566
P55265 (UniProtKB)
IEA
GO:0003677
P55265 (UniProtKB)
IEA
GO:0003726
P55265 (UniProtKB)
NAS
GO:0003726
P55265 (UniProtKB)
IDA
GO:0003726
P55265 (UniProtKB)
TAS
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005515
P55265 (UniProtKB)
IPI
GO:0005634
P55265 (UniProtKB)
IDA
GO:0005634
P55265 (UniProtKB)
IDA
GO:0005634
P55265 (UniProtKB)
IDA
GO:0005634
P55265 (UniProtKB)
IDA
GO:0005634
P55265 (UniProtKB)
TAS
GO:0005654
P55265 (UniProtKB)
IDA
GO:0005654
P55265 (UniProtKB)
TAS
GO:0005654
P55265 (UniProtKB)
TAS
GO:0005654
P55265 (UniProtKB)
TAS
GO:0005654
P55265 (UniProtKB)
TAS
GO:0005730
P55265 (UniProtKB)
IDA
GO:0005737
P55265 (UniProtKB)
IDA
GO:0005737
P55265 (UniProtKB)
IDA
GO:0005737
P55265 (UniProtKB)
TAS
GO:0006382
P55265 (UniProtKB)
IDA
GO:0006382
P55265 (UniProtKB)
IMP
GO:0006382
P55265 (UniProtKB)
IDA
GO:0006382
P55265 (UniProtKB)
IDA
GO:0006382
P55265 (UniProtKB)
TAS
GO:0006397
P55265 (UniProtKB)
IEA
GO:0006606
P55265 (UniProtKB)
IDA
GO:0006611
P55265 (UniProtKB)
IDA
GO:0009615
P55265 (UniProtKB)
IMP
GO:0016020
P55265 (UniProtKB)
IDA
GO:0016553
P55265 (UniProtKB)
IDA
GO:0030218
P55265 (UniProtKB)
IEA
GO:0031054
P55265 (UniProtKB)
IDA
GO:0035280
P55265 (UniProtKB)
IDA
GO:0035455
P55265 (UniProtKB)
IDA
GO:0043066
P55265 (UniProtKB)
IEA
GO:0044387
P55265 (UniProtKB)
IMP
GO:0044387
P55265 (UniProtKB)
IDA
GO:0044530
P55265 (UniProtKB)
IDA
GO:0044822
P55265 (UniProtKB)
IDA
GO:0044822
P55265 (UniProtKB)
IDA
GO:0045070
P55265 (UniProtKB)
IMP
GO:0045070
P55265 (UniProtKB)
IDA
GO:0045071
P55265 (UniProtKB)
IEA
GO:0045087
P55265 (UniProtKB)
TAS
GO:0046872
P55265 (UniProtKB)
IEA
GO:0051607
P55265 (UniProtKB)
IEA
GO:0060216
P55265 (UniProtKB)
IEA
GO:0060337
P55265 (UniProtKB)
TAS
GO:0060339
P55265 (UniProtKB)
IEA
GO:0061484
P55265 (UniProtKB)
IEA
GO:0098586
P55265 (UniProtKB)
IEA
GO:1900369
P55265 (UniProtKB)
IEA

可能调控 ADAR基因的相关microRNA:     

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称
疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Symmetrical dyschromatosis of extremities 0.489500466 35 7 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
AICARDI-GOUTIERES SYNDROME 6 0.24 1 10 CLINVAR_UNIPROT
AICARDI-GOUTIERES SYNDROME 1 0.121900093 7 0 BeFree_CTD_human
AICARDI-GOUTIERES SYNDROME 0.121357209 5 0 BeFree_ORPHANET
Infection 0.0054487 2 0 LHGDN
Hepatitis C, Chronic 0.004734064 2 0 GAD
Lupus Erythematosus, Systemic 0.003538676 3 0 BeFree_LHGDN
Hepatitis B, Chronic 0.002909916 3 0 BeFree_GAD
Inflammation 0.00272435 1 0 LHGDN
Astrocytoma 0.00272435 1 0 LHGDN

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