FMR1 (fragile X messenger ribonucleoprotein 1)

基因基本信息

基因基本信息

symbol:
FMR1
locus group:
protein-coding gene
location:
Xq27.3
gene_family:
alias symbol:
FMRP|FRAXA|MGC87458
alias name:
None
entrez id:
2332
ensembl gene id:
ENSG00000102081
ucsc gene id:
uc010nst.4
refseq accession:
NM_002024
hgnc_id:
HGNC:3775
approved reserved:
1992-01-17

基因染色体位置

基因染色体位置

Xq27.3
基因染色体位置图

基因简述

基因简述

FMR1（Fragile X Mental Retardation 1）基因位于X染色体上（Xq27.3），编码脆性X智力低下蛋白（FMRP），这是一种RNA结合蛋白，主要在大脑和睾丸中高表达。FMRP通过调节mRNA的稳定性、转运和翻译，在突触可塑性和神经元发育中发挥关键作用，尤其影响学习、记忆和认知功能。FMR1基因的5'非翻译区存在CGG三核苷酸重复序列，正常个体重复次数为5-44次，若重复次数超过200次（全突变）会导致基因启动子区异常甲基化，使FMRP表达缺失，引发脆性X综合征（FXS），这是最常见的遗传性智力障碍疾病，表现为智力低下、自闭症样行为、癫痫和面部特征异常。前突变（55-200次重复）虽不直接引起FXS，但可能导致脆性X相关震颤/共济失调综合征（FXTAS）或卵巢功能早衰（FXPOI）。FMR1属于FXR基因家族（包括FXR1和FXR2），该家族成员均含有KH和RGG结构域，参与RNA代谢调控。FMRP的缺失会导致突触部位多种mRNA（如MAP1B、PSD-95）的翻译失调，引起树突棘形态异常和突触功能紊乱。过表达FMRP可能补偿某些神经发育缺陷，但异常高表达可能干扰正常的mRNA调控网络。FMR1还与自闭症谱系障碍、精神分裂症等神经精神疾病相关，其动物模型显示焦虑样行为和社会交互缺陷。目前针对FXS的治疗主要靶向mGluR5通路（如mGluR5拮抗剂），试图纠正因FMRP缺失导致的过度蛋白质合成。

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

由该基因编码的蛋白质结合的RNA，并与多聚核糖体相关联。所编码的蛋白质可在mRNA的贩卖从细胞核至细胞质的参与。 5‘UTR一个三核苷酸重复序列（CGG）通常在6-53份发现，而是扩大到55-230重复是脆性X综合征的原因。的三核苷酸重复的扩张也可能会导致过早的卵巢功能衰竭（POF1）的一种形式。编码不同蛋白同种型和存在于不同的细胞位置的多个可变剪接转录物变体已被用于这个基因说明。 [由RefSeq的，2010年5月提供]

OMIM数据库中对FMR1基因的介绍     Wikipedia数据库中对FMR1基因的介绍

基因序列

基因序列

FMR1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

FMR1基因的碱基突变：           仅显示部分snp
rs782817388       rs782810868       rs782809564       rs782809028       rs782803443       rs782802789       rs782802784       rs782798947       rs782792994       rs782794431       rs782791888       rs782789984       rs782791326       rs782789255       rs782786997       rs782788468       rs782785405      

基因表达

基因表达

FMR1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
CCGAACAGATAATCGTCCAC
59
TTCACTGGAGGTATCTGAAGG
59
GGTGCTAATATTCAGCAAGCT
58
ACTGCATCCTGATCCTCTC
58
GCTTTCTACAAGCATTGGGA
59
ATTGTGATTTGGTGCCGAC
59
CACCTGAACTATTTAAAGCTCC
57
TGGACGATTATCTGTTCGG
57
CCCGAACAGATAATCGTCCA
60
AGTCAACTCTGATCTGAAGGG
59
GATGGTCAAGGAATGGGTC
58
GATGCTTCAGAATTAGTTCCTG
57
GATCTAGATGAAGATACCTGCA
57
ATCTTCAACCCTACTAAGTTCC
57
GATGGTCAAGGAATGGGTC
58
GGTCAGATTCTGAAGTATATCCAG
58
TGTCCATCAATGAAGTCACCT
60
CAAGCTGCCTTGAACTCTC
59
GAACAAAGGACAGCATCGC
60
CTCCAATCTGTCGCAACTG
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）
MYC
FMR1
Unknown
9328468
NRF1
FMR1
Activation
11058604; 16500891
NRF1
FMR1
Unknown
15175277; 9302255; 9328468
SP1
FMR1
Activation
16500891
SP1
FMR1
Unknown
10612627; 15175277; 9328468
USF1
FMR1
Activation
11058604
USF1
FMR1
Unknown
15175277
USF2
FMR1
Activation
11058604
USF2
FMR1
Unknown
15175277

基因本体信息

FMR1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

FMR1基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003723
A0A087WWR6 (UniProtKB)
IEA
GO:0003723
A0A087WXC0 (UniProtKB)
IEA
GO:0003723
A0A087WXI3 (UniProtKB)
IEA
GO:0003723
A0A087WY29 (UniProtKB)
IEA
GO:0003723
A8MQB8 (UniProtKB)
IEA
GO:0005737
A8MQB8 (UniProtKB)
IDA
GO:0003723
G3V0J0 (UniProtKB)
IEA
GO:0005737
G3V0J0 (UniProtKB)
IDA
GO:0003723
G8JLE9 (UniProtKB)
IEA
GO:0000381
Q06787 (UniProtKB)
IDA
GO:0002092
Q06787 (UniProtKB)
IDA
GO:0002151
Q06787 (UniProtKB)
IDA
GO:0002151
Q06787 (UniProtKB)
IDA
GO:0003682
Q06787 (UniProtKB)
ISS
GO:0003723
Q06787 (UniProtKB)
IDA
GO:0003729
Q06787 (UniProtKB)
IDA
GO:0003729
Q06787 (UniProtKB)
IDA
GO:0003729
Q06787 (UniProtKB)
IDA
GO:0003730
Q06787 (UniProtKB)
IDA
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005515
Q06787 (UniProtKB)
IPI
GO:0005634
Q06787 (UniProtKB)
ISS
GO:0005634
Q06787 (UniProtKB)
IDA
GO:0005634
Q06787 (UniProtKB)
IDA
GO:0005634
Q06787 (UniProtKB)
IDA
GO:0005654
Q06787 (UniProtKB)
IDA
GO:0005694
Q06787 (UniProtKB)
ISS
GO:0005730
Q06787 (UniProtKB)
TAS
GO:0005730
Q06787 (UniProtKB)
IDA
GO:0005730
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
TAS
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005737
Q06787 (UniProtKB)
IDA
GO:0005844
Q06787 (UniProtKB)
ISS
GO:0005844
Q06787 (UniProtKB)
ISS
GO:0005844
Q06787 (UniProtKB)
IDA
GO:0005844
Q06787 (UniProtKB)
IDA
GO:0005844
Q06787 (UniProtKB)
IDA
GO:0005844
Q06787 (UniProtKB)
IDA
GO:0005845
Q06787 (UniProtKB)
ISS
GO:0006974
Q06787 (UniProtKB)
IDA
GO:0007215
Q06787 (UniProtKB)
ISS
GO:0007215
Q06787 (UniProtKB)
ISS
GO:0008017
Q06787 (UniProtKB)
ISS
GO:0008266
Q06787 (UniProtKB)
IDA
GO:0008266
Q06787 (UniProtKB)
IDA
GO:0008266
Q06787 (UniProtKB)
IDA
GO:0008266
Q06787 (UniProtKB)
IDA
GO:0010369
Q06787 (UniProtKB)
ISS
GO:0014069
Q06787 (UniProtKB)
ISS
GO:0015030
Q06787 (UniProtKB)
IDA
GO:0015030
Q06787 (UniProtKB)
IDA
GO:0016020
Q06787 (UniProtKB)
IDA
GO:0017148
Q06787 (UniProtKB)
IBA
GO:0019034
Q06787 (UniProtKB)
IDA
GO:0019897
Q06787 (UniProtKB)
ISS
GO:0030371
Q06787 (UniProtKB)
IDA
GO:0030424
Q06787 (UniProtKB)
ISS
GO:0030425
Q06787 (UniProtKB)
ISS
GO:0030425
Q06787 (UniProtKB)
ISS
GO:0030426
Q06787 (UniProtKB)
IDA
GO:0030529
Q06787 (UniProtKB)
IDA
GO:0031369
Q06787 (UniProtKB)
IPI
GO:0032433
Q06787 (UniProtKB)
ISS
GO:0033129
Q06787 (UniProtKB)
IDA
GO:0033592
Q06787 (UniProtKB)
IDA
GO:0034046
Q06787 (UniProtKB)
IDA
GO:0034046
Q06787 (UniProtKB)
IDA
GO:0034046
Q06787 (UniProtKB)
IDA
GO:0034644
Q06787 (UniProtKB)
ISS
GO:0035064
Q06787 (UniProtKB)
IDA
GO:0035197
Q06787 (UniProtKB)
IDA
GO:0035198
Q06787 (UniProtKB)
IDA
GO:0035613
Q06787 (UniProtKB)
IDA
GO:0035613
Q06787 (UniProtKB)
IDA
GO:0036464
Q06787 (UniProtKB)
IDA
GO:0036464
Q06787 (UniProtKB)
IDA
GO:0036464
Q06787 (UniProtKB)
IDA
GO:0042802
Q06787 (UniProtKB)
IDA
GO:0042803
Q06787 (UniProtKB)
IDA
GO:0042995
Q06787 (UniProtKB)
IDA
GO:0043005
Q06787 (UniProtKB)
IDA
GO:0043022
Q06787 (UniProtKB)
IPI
GO:0043197
Q06787 (UniProtKB)
ISS
GO:0043197
Q06787 (UniProtKB)
ISS
GO:0043198
Q06787 (UniProtKB)
IEA
GO:0043204
Q06787 (UniProtKB)
ISS
GO:0043204
Q06787 (UniProtKB)
IDA
GO:0043204
Q06787 (UniProtKB)
IDA
GO:0043488
Q06787 (UniProtKB)
ISS
GO:0043679
Q06787 (UniProtKB)
ISS
GO:0044325
Q06787 (UniProtKB)
IPI
GO:0044822
Q06787 (UniProtKB)
IDA
GO:0044822
Q06787 (UniProtKB)
IDA
GO:0044830
Q06787 (UniProtKB)
IMP
GO:0045202
Q06787 (UniProtKB)
ISS
GO:0045502
Q06787 (UniProtKB)
ISS
GO:0045727
Q06787 (UniProtKB)
IDA
GO:0045727
Q06787 (UniProtKB)
IDA
GO:0045947
Q06787 (UniProtKB)
ISS
GO:0046928
Q06787 (UniProtKB)
ISS
GO:0046982
Q06787 (UniProtKB)
IDA
GO:0048027
Q06787 (UniProtKB)
IDA
GO:0048471
Q06787 (UniProtKB)
IDA
GO:0051028
Q06787 (UniProtKB)
ISS
GO:0051489
Q06787 (UniProtKB)
IDA
GO:0051491
Q06787 (UniProtKB)
ISS
GO:0060964
Q06787 (UniProtKB)
IMP
GO:0060998
Q06787 (UniProtKB)
IDA
GO:0060999
Q06787 (UniProtKB)
ISS
GO:0071598
Q06787 (UniProtKB)
ISS
GO:0072711
Q06787 (UniProtKB)
ISS
GO:0097386
Q06787 (UniProtKB)
ISS
GO:0098586
Q06787 (UniProtKB)
IDA
GO:0098793
Q06787 (UniProtKB)
ISS
GO:0098794
Q06787 (UniProtKB)
ISS
GO:0098908
Q06787 (UniProtKB)
IDA
GO:1900453
Q06787 (UniProtKB)
ISS
GO:1901254
Q06787 (UniProtKB)
IMP
GO:1901386
Q06787 (UniProtKB)
ISS
GO:1901800
Q06787 (UniProtKB)
ISS
GO:1902416
Q06787 (UniProtKB)
IDA
GO:1902737
Q06787 (UniProtKB)
ISS
GO:1902737
Q06787 (UniProtKB)
ISS
GO:1990812
Q06787 (UniProtKB)
ISS
GO:1990825
Q06787 (UniProtKB)
IDA
GO:1990825
Q06787 (UniProtKB)
IDA
GO:1990904
Q06787 (UniProtKB)
IDA
GO:2000301
Q06787 (UniProtKB)
ISS
GO:2000637
Q06787 (UniProtKB)
IDA
GO:2000766
Q06787 (UniProtKB)
ISS
GO:2001022
Q06787 (UniProtKB)
IDA
GO:0032797
Q06787 (UniProtKB)
IDA
GO:0042788
Q06787 (UniProtKB)
TAS
GO:0003723
Q8IXW7 (UniProtKB)
IEA
GO:0003723
R9WNI0 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 FMR1基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Fragile X Syndrome 0.747499467 557 2 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
FRAGILE X TREMOR/ATAXIA SYNDROME 0.360292949 131 0 BeFree_CLINVAR_CTD_human_GAD_MGD
Autistic Disorder 0.21695888 36 0 BeFree_CTD_human_GAD_LHGDN_MGD
Ovarian Failure, Premature 0.187313836 77 0 BeFree_CTD_human_GAD_LHGDN
Intellectual Disability 0.14340359 33 0 BeFree_CTD_human_LHGDN
FRAXA Syndrome 0.122442977 9 0 BeFree_ORPHANET
Congenital Abnormality 0.121085767 5 0 BeFree_CTD_human
Cognition Disorders 0.120814326 4 0 BeFree_CTD_human
Primary Ovarian Insufficiency, Fragile X-Associated 0.120271442 2 0 BeFree_CTD_human
Facies 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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