TAF1 (TATA-box binding protein associated factor 1)

symbol:
TAF1
locus group:
protein-coding gene
location:
Xq13.1
gene_family:
K(lysine) acetyltransferases
alias symbol:
NSCL2|TAFII250|KAT4|DYT3/TAF1
alias name:
None
entrez id:
6872
ensembl gene id:
ENSG00000147133
ucsc gene id:
uc004dzt.6
refseq accession:
NM_004606
hgnc_id:
HGNC:11535
approved reserved:
1986-01-01
Xq13.1
基因染色体位置图

TAF1(TATA-box binding protein associated factor 1)是转录起始因子TFIID的核心组成部分,属于TAF基因家族(TBP-associated factors)。该家族成员均与TATA结合蛋白(TBP)形成复合物,共同参与RNA聚合酶II介导的基因转录起始。TAF1具有多重功能域,包括组蛋白乙酰转移酶(HAT)活性和泛素连接酶活性,能通过乙酰化组蛋白打开染色质结构促进转录,同时参与细胞周期调控和DNA损伤修复。其主要作用位点为基因启动子区域,通过与TBP及其他TAF蛋白协同识别核心启动子元件(如TATA框或起始子Inr)。TAF1突变可导致其与DNA结合能力下降或TFIID复合体组装异常,引发转录失调。已发现TAF1突变与X连锁智力障碍综合征(如MRX33型)和某些癌症(如结直肠癌)相关,其异常表达会破坏细胞增殖与分化平衡。当TAF1过表达时,可能过度激活原癌基因转录,促进肿瘤发生;而低表达则导致管家基因(housekeeping genes)转录不足,影响基础细胞功能。TAF家族共性在于均含有保守的TAF结构域,能够介导蛋白互作并稳定转录前起始复合物(PIC),部分成员还具有组织特异性表达模式。例如TAF1在神经元中高表达,其功能缺陷会直接影响神经发育相关基因的转录水平。

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

由RNA聚合酶II转录起始需要70多个多肽的活动。它协调这些活动的蛋白质是基础转录因子TFIID,其结合的核心启动子正确定位聚合酶,作为支架的转录复合物的其余部分的组件,并作为调节信号的信道。 TFIID是由TATA结合蛋白(TBP)和一组被称为TBP相关因子或TAFS进化保守的蛋白质的。 TAFS可能参与基础转录,作为共激活因子,功能的启动子识别或修改一般转录因子(基转移酶),以方便复杂的组装和转录起始。该基因编码TFIID的最大亚基。此亚基结合于包含转录起始位点的核心启动子序列。它还结合到活化剂和其它转录调节,并且这些相互作??用影响转录起始的速率。这种亚单位含有在N-和C-末端的两个独立的蛋白激酶结构域,但也具有乙酰转移酶活性,并且可以作为泛素活化/偶联酶。在该基因导致肌张力障碍3,扭转突变,X连锁,一个张力障碍 - 帕金森症。这个基因的选择性剪接的结果在多个转录变体。该基因是一个复杂的转录单位(TAF1 / DYT3),其中,一些转录物变体与TAF1共享的外显子以及其他下游DYT3外显子的一部分。 [由RefSeq的,2013年10月提供]

TAF1基因的碱基序列:[NCBI]
Loading Gene Browser...
TAF1基因的碱基突变:           仅显示部分snp
rs780049417       rs779733164       rs779641467       rs778306931       rs778220835       rs776596549       rs775583364       rs773104693       rs772949542       rs771804238       rs771716249       rs770747055       rs770279354       rs769669040       rs769581176       rs767122872       rs766474664      

TAF1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
TGGTAAATGATGAAGGGTGG
58
TTTCATCTTCTGCCACCTC
58
TTCCTTCCCATTCAGAAAGC
58
CAGTTTGAGTCCATCCCTG
58
AGTATAATGGGTACATGTGCAC
58
ACAGACGTTCACAATCTCCT
59
CACAGACCCTATGGTGACG
60
GTGTGGAAAGGGTATGTATTTGG
60
TGGTAAATGATGAAGGGTGG
58
TTTCATCTTCTGCCACCTC
58
CTACCCATCTCGGGAAGAG
59
CCTTATGCCTATTCCATTGTAGG
59
AGAGCTATGGTGTCACCAG
59
CATAGCCAGCATCCTTCAG
58
ACAATCCTTTCTCTGCTATCCA
59
GTTGTTTGGGTCTTATTCCACC
60
CAGCTAATTGAGAGTGCGG
59
CTTCTTTGGAGGAAGCTGC
59
GCATATTCGAGACTTTCTACAGG
59
TTCCATTCGTATCCTCCGTG
60
转录因子
影响基因
影响类型
参考文献链接(PubMed)
TAF1
AR
Activation
TAF1
CDKN1A
Activation
TAF1
LRIG2
Unknown
TAF1
SRC
Unknown
TAF1
TBP
Unknown

TAF1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

TAF1基因的本体(GO)信息:

GO库代码
对应的蛋白质
来源代码
GO:0002039
P21675 (UniProtKB)
IPI
GO:0003713
P21675 (UniProtKB)
IDA
GO:0004402
P21675 (UniProtKB)
IDA
GO:0004674
P21675 (UniProtKB)
EXP
GO:0004674
P21675 (UniProtKB)
IDA
GO:0004674
P21675 (UniProtKB)
IDA
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005515
P21675 (UniProtKB)
IPI
GO:0005524
P21675 (UniProtKB)
IEA
GO:0005654
P21675 (UniProtKB)
IDA
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005654
P21675 (UniProtKB)
TAS
GO:0005669
P21675 (UniProtKB)
IDA
GO:0005669
P21675 (UniProtKB)
IDA
GO:0006352
P21675 (UniProtKB)
ISS
GO:0006366
P21675 (UniProtKB)
TAS
GO:0006367
P21675 (UniProtKB)
TAS
GO:0006367
P21675 (UniProtKB)
TAS
GO:0006368
P21675 (UniProtKB)
TAS
GO:0006974
P21675 (UniProtKB)
IC
GO:0007049
P21675 (UniProtKB)
IEA
GO:0008134
P21675 (UniProtKB)
IPI
GO:0016032
P21675 (UniProtKB)
IEA
GO:0016573
P21675 (UniProtKB)
IEA
GO:0017025
P21675 (UniProtKB)
IPI
GO:0018105
P21675 (UniProtKB)
IDA
GO:0018107
P21675 (UniProtKB)
IDA
GO:0032436
P21675 (UniProtKB)
IDA
GO:0043565
P21675 (UniProtKB)
ISS
GO:0045944
P21675 (UniProtKB)
IDA
GO:0045944
P21675 (UniProtKB)
IGI
GO:0046777
P21675 (UniProtKB)
TAS
GO:0046777
P21675 (UniProtKB)
IDA
GO:0051123
P21675 (UniProtKB)
ISS
GO:0060261
P21675 (UniProtKB)
ISS
GO:0070577
P21675 (UniProtKB)
IDA
GO:0071339
P21675 (UniProtKB)
IDA
GO:1901796
P21675 (UniProtKB)
TAS
GO:0044212
P21675 (UniProtKB)
ISS

可能调控 TAF1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
Dystonia 3, Torsion, X-Linked 0.363800186 14 1 BeFree_CLINVAR_CTD_human_ORPHANET
Coronary Arteriosclerosis 0.004734064 2 0 GAD
Dystonia 0.002985861 11 0 BeFree
Meningococcal Infections 0.002367032 1 0 GAD
Pulmonary Thromboembolisms 0.002367032 1 0 GAD
Blood pressure finding 0.002367032 1 0 GAD
Angina Pectoris 0.002367032 1 0 GAD
Systemic arterial pressure 0.002367032 1 0 GAD
Deep Vein Thrombosis 0.002367032 1 0 GAD
Thrombotic Microangiopathies 0.002367032 1 0 GAD

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