RARA (retinoic acid receptor alpha)

基因基本信息

基因基本信息

symbol:
RARA
locus group:
protein-coding gene
location:
17q21.2
gene_family:
Nuclear hormone receptors
alias symbol:
RAR|NR1B1|RARalpha|RAR-alpha
alias name:
None
entrez id:
5914
ensembl gene id:
ENSG00000131759
ucsc gene id:
uc002huk.3
refseq accession:
NM_000964
hgnc_id:
HGNC:9864
approved reserved:
1988-06-09

基因染色体位置

基因染色体位置

17q21.2
基因染色体位置图

基因简述

基因简述

RARA（视黄酸受体α）属于核受体超家族中的视黄酸受体（RAR）家族，该家族还包括RARB和RARG。RAR家族成员通过与视黄酸（维生素A的活性代谢物）结合，调控基因表达，参与细胞分化、增殖、凋亡及胚胎发育等关键生物学过程。RARA基因编码的蛋白质作为配体依赖的转录因子，通常与RXR（视黄酸X受体）形成异源二聚体，结合到靶基因的特定DNA序列（视黄酸反应元件，RARE）上，从而激活或抑制下游基因的转录。RARA在造血系统、皮肤、神经系统等多种组织中广泛表达，对维持正常生理功能至关重要。RARA的突变或异常表达与多种疾病相关，最著名的是急性早幼粒细胞白血病（APL），其中t(15;17)染色体易位导致PML-RARA融合基因的形成，该融合蛋白干扰了正常RARA的功能，阻断髓系细胞分化，导致白血病发生。此外，RARA的突变或表达异常还可能与其他癌症、皮肤病及发育障碍有关。当RARA过表达时，可能异常激活或抑制下游靶基因，扰乱细胞分化与增殖平衡，促进肿瘤发生；而降低表达则可能导致发育缺陷或免疫功能异常。RAR家族成员的共性是它们均能结合视黄酸，通过相似的机制调控基因表达，但在组织分布和生理功能上存在差异，这种冗余性确保了关键生理过程的稳健性。研究RARA不仅有助于理解APL的发病机制，也为开发靶向治疗（如全反式维甲酸ATRA）提供了理论基础，同时揭示了核受体在细胞信号转导和疾病中的广泛作用。

This gene represents a nuclear retinoic acid receptor. The encoded protein, retinoic acid receptor alpha, regulates transcription in a ligand-dependent manner. This gene has been implicated in regulation of development, differentiation, apoptosis, granulopoeisis, and transcription of clock genes. Translocations between this locus and several other loci have been associated with acute promyelocytic leukemia. Alternatively spliced transcript variants have been found for this locus.[provided by RefSeq, Sep 2010]

这个基因代表了核维甲酸受体。所编码的蛋白质，视黄酸受体α，调节转录的配体依赖性。该基因有牵连的发育，分化，凋亡，granulopoeisis和转录时钟基因的调节。该位点和其他几个位点之间的易位已与急性早幼粒细胞白血病有关。另外剪接转录变体也发现了该基因位点。[由RefSeq的，2010年9月提供]

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

基因序列

基因序列

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

基因突变

基因突变

RARA基因的碱基突变：           仅显示部分snp
rs2732783       rs7219013       rs34789145       rs58577573       rs67142006       rs71355449       rs71356657       rs73309029       rs73983034       rs76921025       rs78281655       rs79329721       rs79803221       rs114559376       rs116012720       rs116369621       rs116988367      

基因表达

基因表达

RARA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
ATCATCAACAAGGTGACCC
57
TTTCTCACAGACTCCTTGGA
58
CTATGCTGGGTGGACTCTC
59
CTCTGGGTCTCAATGGTGG
60
CAAACCACTCCATTGAGACC
59
AAAGCAAGGCTTGTAGATGC
59
ATACACTACGAACAACAGCT
57
CTTGGTGGAGAGTTCACTG
58
CATCATCAACAAGGTGACCC
59
TTCTCACAGACTCCTTGGAC
59
TCAAACCACTCCATTGAGAC
58
AAGCAAGGCTTGTAGATGC
59
ATCATCAACAAGGTGACCC
57
TTTCTCACAGACTCCTTGGA
58
CATCATCAACAAGGTGACCC
59
TTCTCACAGACTCCTTGGAC
59
ATACACTACGAACAACAGCT
57
CTTGGTGGAGAGTTCACTG
58
ATACACTACGAACAACAGCT
57
CTTGGTGGAGAGTTCACTG
58

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）
CRABP2
RARA
Activation
16166294
CREBBP
RARA
Unknown
21110951
ESR1
RARA
Activation
9626663
JUN
RARA
Repression
9377582
KLF4
RARA
Repression
19531492
RARA
ABCC3
Repression
17272513
RARA
ANXA8
Repression
1313714
RARA
CCNA1
Repression
11090075
RARA
CDKN1A
Activation
10356361
RARA
CRABP1
Activation
18000064

基因本体信息

RARA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

RARA基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003707
A8MUP8 (UniProtKB)
IEA
GO:0003708
A8MUP8 (UniProtKB)
IEA
GO:0005634
A8MUP8 (UniProtKB)
IDA
GO:0005737
A8MUP8 (UniProtKB)
IDA
GO:0006351
A8MUP8 (UniProtKB)
IEA
GO:0006355
A8MUP8 (UniProtKB)
IEA
GO:0008270
A8MUP8 (UniProtKB)
IEA
GO:0015629
A8MUP8 (UniProtKB)
IDA
GO:0043401
A8MUP8 (UniProtKB)
IEA
GO:0043565
A8MUP8 (UniProtKB)
IEA
GO:0048384
A8MUP8 (UniProtKB)
IEA
GO:0003707
J3KSJ4 (UniProtKB)
IEA
GO:0003708
J3KSJ4 (UniProtKB)
IEA
GO:0005634
J3KSJ4 (UniProtKB)
IEA
GO:0006351
J3KSJ4 (UniProtKB)
IEA
GO:0006355
J3KSJ4 (UniProtKB)
IEA
GO:0008270
J3KSJ4 (UniProtKB)
IEA
GO:0043401
J3KSJ4 (UniProtKB)
IEA
GO:0043565
J3KSJ4 (UniProtKB)
IEA
GO:0048384
J3KSJ4 (UniProtKB)
IEA
GO:0000122
P10276 (UniProtKB)
IEA
GO:0000790
P10276 (UniProtKB)
IDA
GO:0000900
P10276 (UniProtKB)
IEA
GO:0000977
P10276 (UniProtKB)
IEA
GO:0001657
P10276 (UniProtKB)
IEA
GO:0001843
P10276 (UniProtKB)
IEA
GO:0001889
P10276 (UniProtKB)
IEA
GO:0001972
P10276 (UniProtKB)
IDA
GO:0002068
P10276 (UniProtKB)
IEA
GO:0003148
P10276 (UniProtKB)
IEA
GO:0003417
P10276 (UniProtKB)
IEA
GO:0003700
P10276 (UniProtKB)
IDA
GO:0003700
P10276 (UniProtKB)
IDA
GO:0003707
P10276 (UniProtKB)
IEA
GO:0003708
P10276 (UniProtKB)
IDA
GO:0003713
P10276 (UniProtKB)
IMP
GO:0003713
P10276 (UniProtKB)
IDA
GO:0003713
P10276 (UniProtKB)
IDA
GO:0003714
P10276 (UniProtKB)
IDA
GO:0005102
P10276 (UniProtKB)
IDA
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005515
P10276 (UniProtKB)
IPI
GO:0005634
P10276 (UniProtKB)
IDA
GO:0005634
P10276 (UniProtKB)
IDA
GO:0005634
P10276 (UniProtKB)
IDA
GO:0005634
P10276 (UniProtKB)
IDA
GO:0005654
P10276 (UniProtKB)
TAS
GO:0005654
P10276 (UniProtKB)
TAS
GO:0005654
P10276 (UniProtKB)
TAS
GO:0005737
P10276 (UniProtKB)
IDA
GO:0005737
P10276 (UniProtKB)
IDA
GO:0006367
P10276 (UniProtKB)
TAS
GO:0006468
P10276 (UniProtKB)
IMP
GO:0007165
P10276 (UniProtKB)
IDA
GO:0007281
P10276 (UniProtKB)
IEA
GO:0007283
P10276 (UniProtKB)
IEA
GO:0007565
P10276 (UniProtKB)
IEA
GO:0008134
P10276 (UniProtKB)
IPI
GO:0008134
P10276 (UniProtKB)
IPI
GO:0008144
P10276 (UniProtKB)
IEA
GO:0008270
P10276 (UniProtKB)
IEA
GO:0008284
P10276 (UniProtKB)
IMP
GO:0008285
P10276 (UniProtKB)
IEA
GO:0009986
P10276 (UniProtKB)
IC
GO:0015629
P10276 (UniProtKB)
IDA
GO:0019899
P10276 (UniProtKB)
IPI
GO:0019899
P10276 (UniProtKB)
IPI
GO:0019904
P10276 (UniProtKB)
IPI
GO:0021766
P10276 (UniProtKB)
IEA
GO:0030425
P10276 (UniProtKB)
IEA
GO:0030425
P10276 (UniProtKB)
IEA
GO:0030850
P10276 (UniProtKB)
IEA
GO:0030853
P10276 (UniProtKB)
IDA
GO:0031076
P10276 (UniProtKB)
IEA
GO:0031490
P10276 (UniProtKB)
IDA
GO:0031641
P10276 (UniProtKB)
IEA
GO:0032355
P10276 (UniProtKB)
IEA
GO:0032526
P10276 (UniProtKB)
IMP
GO:0032689
P10276 (UniProtKB)
IDA
GO:0032720
P10276 (UniProtKB)
IDA
GO:0032736
P10276 (UniProtKB)
IDA
GO:0032753
P10276 (UniProtKB)
IDA
GO:0032754
P10276 (UniProtKB)
IDA
GO:0033189
P10276 (UniProtKB)
IEA
GO:0034097
P10276 (UniProtKB)
IEA
GO:0035264
P10276 (UniProtKB)
IEA
GO:0042826
P10276 (UniProtKB)
IEA
GO:0043025
P10276 (UniProtKB)
IEA
GO:0043066
P10276 (UniProtKB)
IEA
GO:0043277
P10276 (UniProtKB)
IMP
GO:0043401
P10276 (UniProtKB)
IEA
GO:0043422
P10276 (UniProtKB)
IPI
GO:0044323
P10276 (UniProtKB)
IDA
GO:0045471
P10276 (UniProtKB)
IEA
GO:0045630
P10276 (UniProtKB)
IDA
GO:0045666
P10276 (UniProtKB)
IEA
GO:0045787
P10276 (UniProtKB)
IMP
GO:0045892
P10276 (UniProtKB)
IDA
GO:0045893
P10276 (UniProtKB)
IDA
GO:0045893
P10276 (UniProtKB)
IMP
GO:0045893
P10276 (UniProtKB)
IDA
GO:0045893
P10276 (UniProtKB)
IDA
GO:0045944
P10276 (UniProtKB)
IDA
GO:0045944
P10276 (UniProtKB)
IMP
GO:0045947
P10276 (UniProtKB)
IEA
GO:0046982
P10276 (UniProtKB)
IDA
GO:0048027
P10276 (UniProtKB)
IEA
GO:0048167
P10276 (UniProtKB)
IEA
GO:0048384
P10276 (UniProtKB)
IMP
GO:0048471
P10276 (UniProtKB)
IEA
GO:0051018
P10276 (UniProtKB)
IDA
GO:0051099
P10276 (UniProtKB)
IMP
GO:0051393
P10276 (UniProtKB)
IPI
GO:0055012
P10276 (UniProtKB)
IEA
GO:0060010
P10276 (UniProtKB)
IEA
GO:0060173
P10276 (UniProtKB)
IEA
GO:0060324
P10276 (UniProtKB)
IEA
GO:0060534
P10276 (UniProtKB)
IEA
GO:0060591
P10276 (UniProtKB)
IEA
GO:0061037
P10276 (UniProtKB)
IEA
GO:0071222
P10276 (UniProtKB)
IEA
GO:0071300
P10276 (UniProtKB)
IDA
GO:0071391
P10276 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 RARA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
Acute Promyelocytic Leukemia 0.347243502 399 1 BeFree_CTD_human_LHGDN_ORPHANET
Mammary Neoplasms 0.127077352 9 0 BeFree_CTD_human_LHGDN
Liver carcinoma 0.121085767 5 0 BeFree_CTD_human
Phyllodes Tumor 0.12 1 0 CTD_human
Neoplasms, Second Primary 0.12 1 0 CTD_human
Sciatic Neuropathy 0.12 1 0 CTD_human
Fibroadenoma 0.12 1 0 CTD_human
Amyotrophic Lateral Sclerosis 0.08 1 0 RGD
Promyelocytic leukemia 0.025244094 93 0 BeFree
leukemia 0.020397866 39 0 BeFree_LHGDN

基因相关服务

基因相关服务

联系方式

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