TAF1 - TATA-box binding protein associated factor 1 Gene

中文名称：TATA-box 结合蛋白相关因子 1

种属: Homo sapiens

同用名: OF; XDP; BA2R; CCG1; CCGS; DYT3; KAT4; P250; NSCL2; TAF2A; MRXS33; N-TAF1; TAFII250; DYT3/TAF1; TAFII-250; TAF(II)250

基因 ID: 6872 | 基因类型: protein coding

关于 TAF1

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:71,366,357-71,530,525 (from NCBI)

This gene has 27 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 5 phenotypes. Ubiquitous expression in thyroid (RPKM 5.8), endometrium (RPKM 5.4) and 25 other tissues.

功能概要

RNA 聚合酶 II 启动转录需要 70 多种多肽的活性。协调这些活动的蛋白质是基础转录因子 TFIID，它与核心启动子结合以正确定位聚合酶，充当组装转录复合物其余部分的支架，并充当调节信号的通道。 TFIID 由 TATA 结合蛋白 (TBP) 和一组称为 TBP 相关因子或 TAF 的进化保守蛋白组成。 TAF 可能参与基础转录，充当共激活因子，在启动子识别中发挥作用或修饰一般转录因子 (GTF) 以促进复杂的组装和转录起始。该基因编码 TFIID 的最大亚基。该亚基与包含转录起始位点的核心启动子序列结合。它还与激活剂和其他转录调节因子结合，这些相互作用会影响转录起始速率。该亚基在 N 端和 C 端包含两个独立的蛋白激酶结构域，但也具有乙酰转移酶活性，可作为泛素激活/结合酶。该基因的突变导致肌张力障碍 3，扭转，X 连锁，一种肌张力障碍-帕金森综合症。该基因的可变剪接导致多个转录变体。该基因是复杂转录单元 (TAF1/DYT3) 的一部分，其中一些转录变体与 TAF1 以及其他下游 DYT3 外显子共享外显子。[RefSeq 提供，2013 年 10 月]

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]

TAF1 基因产物(3)

mRNA	Protein	Name
NM_001286074.2	NP_001273003.2	transcription initiation factor TFIID subunit 1 isoform 3
NM_004606.5	NP_004597.3	transcription initiation factor TFIID subunit 1 isoform 1
NM_138923.4	NP_620278.2	transcription initiation factor TFIID subunit 1 isoform 2

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
contributes to H3K27me3 modified histone binding	IPI IPI: 通过物理相互作用推断	24927529	GOA
enables RNA polymerase I general transcription initiation factor activity	IDA IDA: 通过直接分析推断	12498690	GOA
enables RNA polymerase II core promoter sequence-specific DNA binding	IMP IMP: 通过突变表型推断	25412659	GOA
enables RNA polymerase II general transcription initiation factor activity	IDA IDA: 通过直接分析推断	17996705	GOA
enables RNA polymerase II general transcription initiation factor activity	IGI IGI: 通过遗传相互作用推断	25412659	GOA
enables RNA polymerase II general transcription initiation factor binding	IPI IPI: 通过物理相互作用推断	8625415	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	24289924	GOA
enables TBP-class protein binding	IPI IPI: 通过物理相互作用推断	9660973	GOA
NOT enables acetyl-CoA binding	IDA IDA: 通过直接分析推断	24927529	GOA
enables histone acetyltransferase activity	IDA IDA: 通过直接分析推断	8980232	GOA
contributes to histone reader activity	IDA IDA: 通过直接分析推断	24927529	GOA
enables kinase activity	IDA IDA: 通过直接分析推断	18548200	GOA
enables lysine-acetylated histone binding	IDA IDA: 通过直接分析推断	17996705	GOA
enables nuclear receptor binding	IPI IPI: 通过物理相互作用推断	20181722	GOA
enables p53 binding	IPI IPI: 通过物理相互作用推断	15053879	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	7565781	GOA
enables protein heterodimerization activity	IPI IPI: 通过物理相互作用推断	25412659	GOA
enables protein kinase activity	IDA IDA: 通过直接分析推断	24289924	GOA
enables protein serine/threonine kinase activity	EXP EXP: 通过实验结果推断	15053879	GOA
enables protein serine/threonine kinase activity	IDA IDA: 通过直接分析推断	8625415	GOA
enables transcription regulator inhibitor activity	IDA IDA: 通过直接分析推断	24289924	GOA
enables ubiquitin conjugating enzyme activity	IDA IDA: 通过直接分析推断	20181722	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in DNA damage response	IDA IDA: 通过直接分析推断	24289924	GOA
involved in RNA polymerase II preinitiation complex assembly	IPI IPI: 通过物理相互作用推断	27007846	GOA
involved in cellular response to ATP	IDA IDA: 通过直接分析推断	24289924	GOA
involved in cellular response to UV	IDA IDA: 通过直接分析推断	24289924	GOA
involved in mRNA transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	17884155	GOA
involved in midbrain development	IGI IGI: 通过遗传相互作用推断	26637982	GOA
involved in negative regulation of gene expression	IMP IMP: 通过突变表型推断	17237821	GOA
involved in negative regulation of protein autoubiquitination	IDA IDA: 通过直接分析推断	17237821	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: 通过突变表型推断	24289924	GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process	IMP IMP: 通过突变表型推断	17237821	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: 通过直接分析推断	8625415	GOA
involved in peptidyl-threonine phosphorylation	IDA IDA: 通过直接分析推断	15053879	GOA
involved in positive regulation of androgen receptor activity	IDA IDA: 通过直接分析推断	20181722	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	15053879	GOA
involved in positive regulation of protein binding	IDA IDA: 通过直接分析推断	17237821	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	20181722	GOA
involved in positive regulation of transcription initiation by RNA polymerase II	IDA IDA: 通过直接分析推断	17884155	GOA
involved in protein autophosphorylation	IDA IDA: 通过直接分析推断	8625415	GOA
involved in protein phosphorylation	IDA IDA: 通过直接分析推断	18548200	GOA
involved in protein polyubiquitination	IDA IDA: 通过直接分析推断	20181722	GOA
involved in protein stabilization	IDA IDA: 通过直接分析推断	17237821	GOA
involved in transcription by RNA polymerase II	IGI IGI: 通过遗传相互作用推断	9660973	GOA
involved in transcription initiation at RNA polymerase I promoter	IGI IGI: 通过遗传相互作用推断	12498690	GOA
involved in transcription initiation at RNA polymerase II promoter	IDA IDA: 通过直接分析推断	17996705	GOA
involved in transcription initiation at RNA polymerase II promoter	IGI IGI: 通过遗传相互作用推断	25412659	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	20181722	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of MLL1 complex	IDA IDA: 通过直接分析推断	15960975	GOA
located in chromatin	IDA IDA: 通过直接分析推断	20181722	GOA
colocalizes with nucleolus	IDA IDA: 通过直接分析推断	12498690	GOA
colocalizes with nucleoplasm	IDA IDA: 通过直接分析推断	12498690	GOA
located in nucleus	EXP EXP: 通过实验结果推断	23332750	GOA
located in nucleus	IDA IDA: 通过直接分析推断	12498690	GOA
part of transcription factor TFIID complex	IDA IDA: 通过直接分析推断	8625415	GOA
part of transcription factor TFIID complex	IPI IPI: 通过物理相互作用推断	23332750	GOA
part of transcription regulator complex	IPI IPI: 通过物理相互作用推断	25412659	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

TAF1 蛋白结构

TBP-binding

DUF3591

zf-CCHC_6

Bromodomain

0
300
600
900
1200
1500
1872 a.a.

蛋白主名

其他名称

transcription initiation factor TFIID subunit 1

TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa

TAF1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	TAF1	P21675	TBP	Homo sapiens	P20226	GMS	18391197
种属内	TAF1	P21675	GTF2F1	Homo sapiens	P35269	CoIP	7590250
种属间	TAF1	P21675	e1a_ade05	Human adenovirus C	P03255	Affinity Techniques	7565781

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Intellectual Developmental Disorder, X-Linked, Syndromic 33

MRXS33	Mental Retardation, X-Linked, Syndromic 33
Intellectual Developmental Disorder, X-Linked Syndromic 33	X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Mental Retardation, X-Linked, Syndromic, Type 33

Dystonia 3, Torsion, X-Linked

X-Linked Dystonia-Parkinsonism	DYT3
Xdp	Lubag
Dystonia-Parkinsonism, X-Linked	Torsion Dystonia-Parkinsonism, Filipino Type
Dyt-Taf1	X-Linked Dystonia-Parkinsonism Syndrome
X-Linked Torsion Dystonia-Parkinsonism Syndrome	Dystonia Musculorum Deformans
X-Linked Dystonia-Parkinsonism/Lubag	Lubag Syndrome
Dystonia-3	Torsion Dystonia-Parkinsonism Filipino Type
X-Linked Torsion Dystonia 3	Dystonia, Torsion, X-Linked, Type 3

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Retinoblastoma

RB	Trilateral Retinoblastoma
RB1	Retinoblastoma, Trilateral
Neuroblastoma Of Retina	Rb - Retinoblastoma
Eye Cancer, Retinoblastoma	Retinal Cancer
Retinal Tumor	Glioma, Retinal
Non-Hereditary Retinoblastoma	Childhood Cancer Retinoblastoma
Malignant Neoplasm Of Retina	Retinal Neoplasms

Parkinson Disease 4, Autosomal Dominant

Autosomal Dominant Parkinson Disease 4	PARK4
Parkinson Disease 4, Autosomal Dominant Lewy Body	Parkinson Disease 4
Parkinson'S Disease 4	Autosomal Dominant Lewy Body Parkinson Disease 4
Autosomal Dominant Parkinson'S Disease 4	Parkinson Disease 4 Autosomal Dominant Lewy Body
Parkinson Disease Autosomal Dominant 4	Parkinson Disease Familial Type 4
Parkinson Disease, Type 4

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Focal Dystonia

Dystonia, Focal, Task-Specific

Segmental Dystonia

Dystonia 1, Torsion, Autosomal Dominant

Dystonia Musculorum Deformans 1	Dystonia Musculorum Deformans
DYT1	Early-Onset Torsion Dystonia
Eotd	Dystonia-1, Torsion
Torsion Dystonia 1	Autosomal Dominant Torsion Dystonia 1
Dystonia-1	Oppenheim'S Dystonia
Oppenheim-Ziehen Disease	Early Onset Torsion Dystonia
Dystonia 3, Torsion, X-Linked

Cervical Dystonia

Spasmodic Torticollis

Developmental And Epileptic Encephalopathy 65

DEE65	Epileptic Encephalopathy, Early Infantile, 65
Eiee65	Developmental And Epileptic Encephalopathy, 65
Early Infantile Epileptic Encephalopathy 65	Encephalopathy, Epileptic, Early Infantile, Type 65

Dystonia, Dopa-Responsive

Dystonia 5	Dopa-Responsive Dystonia
DRD	Dyt5
Dystonia-Parkinsonism With Diurnal Fluctuation	Dyt-Th
Hpd With Diurnal Fluctuation	Hereditary Progressive Dystonia With Diurnal Fluctuation
Dystonia, Progressive, With Diurnal Variation	Segawa Syndrome, Autosomal Dominant
Dystonia, Dopa-Responsive, Autosomal Dominant	Dopa-Responsive Dystonia, Autosomal Dominant
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia	Dyt-Gch1
Dyt-Spr	Dystonia 5, Dopa-Responsive Type
Hereditary Progressive Dystonia With Marked Diurnal Fluctuation	Autosomal Dominant Dopa-Responsive Dystonia
Autosomal Dominant Segawa Syndrome	Dystonia-5
Progressive Dystonia With Diurnal Fluctuation	Dystonia, Type 5, Dopa-Responsive Type

Blepharospasm

Spasmodic Dystonia

Laryngeal Dystonia

Hemidystonia

Multifocal Dystonia

Hereditary Lymphedema Ii

Meige Syndrome	Meige Disease
Meige Lymphedema	Hereditary Lymphedema Type Ii
Lymphedema Hereditary Type 2	Lymphedema Praecox
Lymphedema, Hereditary, Ii	Blepharospasm-Oromandibular Dystonia Syndrome
Meige Dystonia	Meige'S Syndrome
Late-Onset Lymphedema	Lmph2
Lymphedema Preacox	Lymphedema, Late-Onset
Blepharospasm - Oromandibular Dystonia	Blepharospasm-Oromandibular Dystonia
Brueghel Syndrome	Idiopathic Blepharospasm-Oromandibular Dystonia Syndrome
Oral Facial Dystonia	Segmental Cranial Dystonia
Meigs Syndrome

Lymphatic Malformation 5

Meige Syndrome	Meige Disease
Meige Lymphedema	Lymphedema Praecox
Lymphedema, Late-Onset	Late-Onset Lymphedema
LMPH2	Meigs Syndrome
LMPHM5	Lymphedema, Hereditary, Ii, Formerly
Lmph2, Formerly	Hereditary Lymphedema Ii
Demons-Meigs Syndrome	Hereditary Lymphedema Type Ii
Lymphedema, Hereditary, 2	Lymphedema, Hereditary, Ii
Meige'S Disease

Oromandibular Dystonia

Huntington Disease

Huntington'S Disease	Huntington Chorea
Huntington'S Chorea	HD
Huntington Chronic Progressive Hereditary Chorea	Juvenile Huntington Disease
Chronic Progressive Chorea	Chronic Progressive Hereditary Chorea
Hc - [Huntington Chorea]	Hereditary Chorea
Progressive Hereditary Chorea

Alternating Hemiplegia Of Childhood

Alternating Hemiplegia	Ahc
Alternating Hemiplegia Syndrome	Hemiplegia, Alternating, Of Childhood
Hemiplegia, Crossed

Movement Disease

Movement Disorders

Movement Disorder

Dystonia 11, Myoclonic

Myoclonic Dystonia	Myoclonus-Dystonia Syndrome
DYT11	Myoclonic Dystonia 11
Alcohol-Responsive Dystonia	Myoclonus, Hereditary Essential
Dystonia-11, Myoclonic	Myoclonus-Dystonia
Dystonia 11	Hereditary Essential Myoclonus
Dystonia, Alcohol-Responsive	Dyt-Sgce
Dystonia, Alcohol Responsive	Dystonia-11
Dystonia, Myoclonic	Dystonia, Myoclonic, Type 11

Parkinson Disease, Late-Onset

Parkinson Disease	Parkinson'S Disease
PD	PARK
Parkinson Disease, Susceptibility To	Late Onset Parkinson'S Disease
Late Onset Parkinson Disease	Paralysis Agitans
Primary Parkinsonism	Idiopathic Parkinson Disease
Parkinson'S	Parkinson Disease, Late-Onset, Susceptibility To
Parkinson Disease, Age Of Onset, Modifier	Lewy Body Parkinson Disease
Idiopathic Parkinson'S Disease	Pd - [Parkinson Disease]
Parkinson Disease Nos	Parkinson, Nos
Primary Parkinson Disease

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-107424	BAY-299	Inhibitor	99.11%	否
HY-123621	GNE-375	Inhibitor	99.93%	否
HY-112803	GNE-371		98.21%	否
HY-101088	CeMMEC13	Inhibitor	≥98.0%	否
HY-111445	CeMMEC1	Inhibitor	99.65%	否
HY-117997	UMB-32	Inhibitor	/	否
HY-150239	BAY-364	Inhibitor	/	否
HY-RS14157	TAF1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS14163	TAF1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS14164	TAF1C Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS14165	TAF1D Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-RS14166	TAF1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	TAF1	VGNC	VGNC:97834
Rattus norvegicus	TAF1	RGD	RGD:1562050
Mus musculus	TAF1	MGD	MGI:1336878

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