RNH1 (ribonuclease/angiogenin inhibitor 1)

symbol:
RNH1
locus group:
protein-coding gene
location:
11p15.5
gene_family:
alias symbol:
RAI
alias name:
None
entrez id:
6050
ensembl gene id:
ENSG00000023191
ucsc gene id:
uc001lpq.3
refseq accession:
NM_203389
hgnc_id:
HGNC:10074
approved reserved:
1990-02-24
11p15.5
基因染色体位置图

RNH1(核糖核酸酶H1,英文全称Ribonuclease H1)是一种重要的核酸酶,属于核糖核酸酶H(RNase H)家族。该家族的主要功能是特异性降解RNA-DNA杂交链中的RNA部分,在DNA复制、修复和转录等过程中发挥关键作用。RNH1基因编码的蛋白具有两个功能域:一个负责结合杂交链,另一个具有催化活性。RNH1主要存在于细胞核和线粒体中,在线粒体中它参与处理由线粒体DNA复制产生的RNA引物,对维持线粒体基因组稳定性至关重要。RNH1突变可能导致线粒体DNA缺失综合征,表现为进行性眼外肌麻痹、肌无力和神经系统异常等。此外,RNH1功能异常还与艾卡迪综合征(一种罕见的神经发育障碍)和某些癌症有关。RNH1过表达可能导致DNA损伤增加和基因组不稳定性,而表达降低则会影响线粒体DNA的复制和细胞能量代谢。RNH1属于RNase H基因家族,该家族成员都具有降解RNA-DNA杂交链的能力,但亚细胞定位和具体功能存在差异。RNH1与RNASEH2A、RNASEH2B和RNASEH2C等基因共同维持基因组稳定性,其中RNASEH2复合物主要参与核内RNA-DNA杂交链的清除。

Placental ribonuclease inhibitor (PRI) is a member of a family of proteinaceous cytoplasmic RNase inhibitors that occur in many tissues and bind to both intracellular and extracellular RNases (summarized by Lee et al., 1988 [PubMed 3219362]). In addition to control of intracellular RNases, the inhibitor may have a role in the regulation of angiogenin (MIM 105850). Ribonuclease inhibitor, of 50,000 Da, binds to ribonucleases and holds them in a latent form. Since neutral and alkaline ribonucleases probably play a critical role in the turnover of RNA in eukaryotic cells, RNH may be essential for control of mRNA turnover; the interaction of eukaryotic cells with ribonuclease may be reversible in vivo.[supplied by OMIM, Jul 2010]

胎盘核糖核酸酶抑制剂(PRI)是一个家庭中出现的许多组织和结合胞内和胞外RNA酶蛋白质的细胞质RNA酶抑制剂的成员(Lee等人总结,1988 [搜索PubMed 3219362])。除了细胞内RNA酶的控制,该抑制剂可以具有在血管生成的调节中发挥作用(MIM 105850)。核糖核酸酶抑制剂,5大的,结合到核糖核酸酶,并持有他们在一个潜在形式。由于中性和碱性核糖核酸可能发挥在真核细胞RNA的周转至关重要的作用,RNH可能是mRNA的营业额控制是必不可少的;真核细胞具有核糖核酸的相互作用可能是在体内是可逆的。[通过OMIM,2010年7月供给]

RNH1基因的碱基序列:[NCBI]
Loading Gene Browser...
RNH1基因的碱基突变:           仅显示部分snp
rs7983       rs7983       rs10540       rs10540       rs17584       rs17584       rs17585       rs17585       rs176939       rs176939       rs211523       rs211523       rs211524       rs211524       rs211525       rs211525       rs211526      

RNH1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
AGATCCAGAAGCTGAGGAG
58
GAGAGGCTGCAATACTCCA
59
GTGCTCAGGGAATGTATCCA
60
AAAGTGGTCAGGCAGAGAC
60
GGTGTCTCAGAATCTCCGG
60
CCTCACACTGGATGTCCAG
60
TTAACAGTTACACTGGGCC
57
GTTCTTCATGCCATGTTGG
57
GTGTGACATCAGACAACTGC
60
CACACTCCCAGATCCACAG
60
TCTTGACTGACAGAAACGGA
59
CCGGAGATTCTGAGACACC
60
CCTGGACATCCAGTGTGAG
60
GAAGTGCAGAGCTGATGTC
59
TAACAGTTACACTGGGCCG
60
AGTTCTTCATGCCATGTTGG
59
GTGACATCAGACAACTGCC
59
CACACTCCCAGATCCACAG
60
TTTCGTCTTCCTCACTGGT
59
GAGGGCTAAGGAGACAGAG
59
      尚未收录相关数据

RNH1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

RNH1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0005654
E9PIK5 (UniProtKB)
IDA
GO:0005737
E9PIK5 (UniProtKB)
IDA
GO:0005654
E9PIM9 (UniProtKB)
IDA
GO:0005737
E9PIM9 (UniProtKB)
IDA
GO:0005654
E9PLZ3 (UniProtKB)
IDA
GO:0005737
E9PLZ3 (UniProtKB)
IDA
GO:0005654
E9PMJ3 (UniProtKB)
IDA
GO:0005737
E9PMJ3 (UniProtKB)
IDA
GO:0005654
H0YCR7 (UniProtKB)
IDA
GO:0005737
H0YCR7 (UniProtKB)
IDA
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005515
P13489 (UniProtKB)
IPI
GO:0005654
P13489 (UniProtKB)
IDA
GO:0005737
P13489 (UniProtKB)
IDA
GO:0006402
P13489 (UniProtKB)
NAS
GO:0008428
P13489 (UniProtKB)
IDA
GO:0032311
P13489 (UniProtKB)
IPI
GO:0043086
P13489 (UniProtKB)
IEA
GO:0045765
P13489 (UniProtKB)
IDA
GO:0070062
P13489 (UniProtKB)
IDA
GO:0070062
P13489 (UniProtKB)
IDA
GO:0070062
P13489 (UniProtKB)
IDA
GO:0070062
P13489 (UniProtKB)
IDA

可能调控 RNH1基因的相关microRNA:     

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
melanoma 0.002995792 2 0 BeFree_LHGDN
Schizophrenia 0.00272435 1 0 LHGDN
Skin carcinoma 0.002367032 1 0 GAD
Neoplasm Metastasis 0.001628651 6 0 BeFree
Malignant neoplasm of urinary bladder 0.001085767 4 0 BeFree
Carcinoma of bladder 0.001085767 4 0 BeFree
HIV Infections 0.001085767 4 0 BeFree
Colorectal Carcinoma 0.000814326 3 0 BeFree
Carcinogenesis 0.000814326 3 0 BeFree
Experimental Organism Basal Cell Carcinoma 0.000814326 3 0 BeFree

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