RB1 (RB transcriptional corepressor 1)

基因基本信息

基因基本信息

symbol:
RB1
locus group:
protein-coding gene
location:
13q14.2
gene_family:
Endogenous ligands
alias symbol:
RB|PPP1R130
alias name:
prepro-retinoblastoma-associated p…
entrez id:
5925
ensembl gene id:
ENSG00000139687
ucsc gene id:
uc001vcb.4
refseq accession:
NM_000321
hgnc_id:
HGNC:9884
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

13q14.2
基因染色体位置图

基因简述

基因简述

RB1（视网膜母细胞瘤基因1）是一个关键的抑癌基因，位于人类染色体13q14.2上，属于RB基因家族。该基因编码的蛋白质称为pRB（视网膜母细胞瘤蛋白），在细胞周期调控中发挥核心作用。pRB的主要功能是通过结合并抑制E2F转录因子家族成员来阻止细胞从G1期进入S期，从而控制细胞增殖。当细胞需要分裂时，pRB会被细胞周期蛋白依赖性激酶（CDK）磷酸化，释放E2F，允许细胞周期进程。RB1的突变或功能丧失会导致细胞周期失控，促进肿瘤发生。最常见的与RB1突变相关的疾病是视网膜母细胞瘤（一种儿童眼癌），但该基因的异常也与骨肉瘤、小细胞肺癌、乳腺癌和膀胱癌等多种癌症相关。RB1基因突变可以是遗传性的（导致家族性视网膜母细胞瘤）或获得性的。当RB1功能完全丧失时，细胞会不受控制地增殖。RB1属于"口袋蛋白"家族，该家族还包括p107和p130，这些蛋白质都含有保守的口袋结构域，用于结合E2F等蛋白质并调控细胞周期。如果RB1过表达，可能导致细胞周期停滞和过度抑制细胞增殖；而表达降低或功能丧失则会导致细胞增殖失控和肿瘤发生。除了细胞周期调控，RB1还参与染色质重塑、细胞分化、凋亡和基因组稳定性维持等过程。研究表明，RB1与其他抑癌基因如p53存在功能上的交叉和互补，共同维持细胞的正常状态。在干细胞生物学中，RB1对干细胞的自我更新和分化平衡也起着重要作用。由于其在癌症中的关键作用，RB1通路已成为癌症治疗的重要靶点，许多抗癌药物旨在恢复或模拟RB1的功能。

The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质是细胞周期的负调节和是发现的第一个肿瘤抑制基因。所编码的蛋白质也稳定结构异保持整体染色质结构。该蛋白质的活性，低磷酸形式结合转录因子E2F1。在该基因缺陷的儿童癌症视网膜母细胞瘤（RB），膀胱癌和骨肉瘤的一个原因。 [由RefSeq的，2008年7月提供]

OMIM数据库中对RB1基因的介绍     Wikipedia数据库中对RB1基因的介绍

基因序列

基因序列

RB1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

RB1基因的碱基突变：           仅显示部分snp
rs1573601       rs2252544       rs2854351       rs3092870       rs3092871       rs3092873       rs3092874       rs3092875       rs3092876       rs3092877       rs3092878       rs3092879       rs3092880       rs4151416       rs4151417       rs4151418       rs4151419      

基因表达

基因表达

RB1基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
CTGGCAGAAATGACTTCTACTC
59
CTCTTCCTTGTTTGAGGTATCC
59
CTGGCAGAAATGACTTCTACTC
59
CTCTTCCTTGTTTGAGGTATCC
59
TGAAAGCAACACAGGATTCAC
60
GATTCAAGGTGATCAGTTGGTC
59
GTATTGTTTGCACTCTTCAGCA
60
AGTAGATATCGAACTGCTGGG
59
ACAAATGGAAGATGATCTGGTG
59
GGTGAACCATTAATGGGTATAACAG
60
GAAGAATGTGAGCTGCATGG
60
TCTCAGAAGTCTAATTCCATCCC
60
ACTGATCACCTTGAATCTGC
58
CAGGAGAAAGATACATATCTGCTG
59
ATGGCTCTCAGATTCACCT
58
AGCAGATTCAAGGTGATCAG
58
CATGGCTCTCAGATTCACCT
60
CAGATTCAAGGTGATCAGTTGG
59
AAGCAACCCTCCTAAACCA
59
GGGAGATGTTTACTTCCATCTG
59

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
BDP1
RB1
Unknown
12734418
CTNNB1
RB1
Repression
16628468
DNMT1
RB1
Repression
17934516
E2F1
RB1
Activation
8264596
KAT2B
RB1
Activation
19525977
PAX5
RB1
Unknown
10197586
RB1
ATF2
Unknown
7702750
RB1
BIRC5
Unknown
18504435
RB1
BRCA1
Repression
20068145
RB1
CDH1
Unknown
12391156

基因本体信息

RB1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

RB1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000075
P06400 (UniProtKB)
TAS
GO:0000082
P06400 (UniProtKB)
TAS
GO:0000083
P06400 (UniProtKB)
TAS
GO:0000785
P06400 (UniProtKB)
TAS
GO:0001047
P06400 (UniProtKB)
IDA
GO:0001102
P06400 (UniProtKB)
IEA
GO:0003677
P06400 (UniProtKB)
TAS
GO:0003700
P06400 (UniProtKB)
TAS
GO:0003713
P06400 (UniProtKB)
NAS
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005515
P06400 (UniProtKB)
IPI
GO:0005634
P06400 (UniProtKB)
IDA
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005654
P06400 (UniProtKB)
TAS
GO:0005819
P06400 (UniProtKB)
IEA
GO:0006338
P06400 (UniProtKB)
TAS
GO:0006351
P06400 (UniProtKB)
IEA
GO:0006469
P06400 (UniProtKB)
IPI
GO:0007050
P06400 (UniProtKB)
TAS
GO:0007070
P06400 (UniProtKB)
TAS
GO:0007093
P06400 (UniProtKB)
TAS
GO:0007265
P06400 (UniProtKB)
IEP
GO:0007346
P06400 (UniProtKB)
IMP
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0008134
P06400 (UniProtKB)
IPI
GO:0010629
P06400 (UniProtKB)
IMP
GO:0016032
P06400 (UniProtKB)
IEA
GO:0016514
P06400 (UniProtKB)
TAS
GO:0016605
P06400 (UniProtKB)
IDA
GO:0019900
P06400 (UniProtKB)
IDA
GO:0030521
P06400 (UniProtKB)
NAS
GO:0031134
P06400 (UniProtKB)
IMP
GO:0031175
P06400 (UniProtKB)
IEA
GO:0031625
P06400 (UniProtKB)
IPI
GO:0034088
P06400 (UniProtKB)
IMP
GO:0034349
P06400 (UniProtKB)
IEA
GO:0035189
P06400 (UniProtKB)
TAS
GO:0035914
P06400 (UniProtKB)
IEA
GO:0042551
P06400 (UniProtKB)
IEA
GO:0042802
P06400 (UniProtKB)
IPI
GO:0042802
P06400 (UniProtKB)
IPI
GO:0043353
P06400 (UniProtKB)
IEA
GO:0043433
P06400 (UniProtKB)
TAS
GO:0043550
P06400 (UniProtKB)
IDA
GO:0045445
P06400 (UniProtKB)
IMP
GO:0045651
P06400 (UniProtKB)
IEA
GO:0045842
P06400 (UniProtKB)
IMP
GO:0045879
P06400 (UniProtKB)
IEA
GO:0045892
P06400 (UniProtKB)
IDA
GO:0045892
P06400 (UniProtKB)
IDA
GO:0045892
P06400 (UniProtKB)
TAS
GO:0045892
P06400 (UniProtKB)
IDA
GO:0045893
P06400 (UniProtKB)
NAS
GO:0045944
P06400 (UniProtKB)
IEA
GO:0048565
P06400 (UniProtKB)
IEA
GO:0048667
P06400 (UniProtKB)
IEA
GO:0050680
P06400 (UniProtKB)
IEA
GO:0050681
P06400 (UniProtKB)
NAS
GO:0051146
P06400 (UniProtKB)
IEA
GO:0051219
P06400 (UniProtKB)
IPI
GO:0051301
P06400 (UniProtKB)
IEA
GO:0051402
P06400 (UniProtKB)
IEA
GO:0071459
P06400 (UniProtKB)
IMP
GO:0071466
P06400 (UniProtKB)
IEA
GO:0071922
P06400 (UniProtKB)
IMP
GO:0071930
P06400 (UniProtKB)
IEA
GO:0090230
P06400 (UniProtKB)
TAS
GO:0097284
P06400 (UniProtKB)
IEA
GO:2000134
P06400 (UniProtKB)
TAS
GO:2000679
P06400 (UniProtKB)
IDA
GO:0008024
P06400 (UniProtKB)
IDA
GO:0003674
Q92728 (UniProtKB)
ND
GO:0005575
Q92728 (UniProtKB)
ND
GO:0008150
Q92728 (UniProtKB)
ND

基因相关microRNA

基因相关microRNA

可能调控 RB1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Retinoblastoma 0.499992533 286 86 BeFree_CLINVAR_CTD_human_GAD_LHGDN_UNIPROT
Small cell carcinoma of lung 0.364614512 19 1 BeFree_CLINVAR_CTD_human_ORPHANET
Mammary Neoplasms 0.141513429 19 0 BeFree_CTD_human_LHGDN
Osteosarcoma 0.133767591 42 4 BeFree_CTD_human_GAD
Liver carcinoma 0.130791662 25 0 BeFree_CTD_human_GAD_LHGDN
Bladder Neoplasm 0.126534468 6 0 BeFree_CTD_human_LHGDN
Pancreatic Neoplasm 0.125091382 3 0 CTD_human_GAD_LHGDN
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.123810118 6 0 BeFree_CTD_human_LHGDN
Malignant neoplasm of urinary bladder 0.123257302 12 0 BeFree_CLINVAR
Non-Small Cell Lung Carcinoma 0.122442977 10 0 BeFree_CTD_human

基因相关服务

基因相关服务

联系方式

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