TAF1 - TATA-box binding protein associated factor 1 Gene

Also Known as OF; XDP; BA2R; CCG1; CCGS; DYT3; KAT4; P250; NSCL2; TAF2A; MRXS33; N-TAF1; TAFII250; DYT3/TAF1; TAFII-250; TAF(II)250

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6872

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to H3K27me3 modified histone binding	IPI IPI: Inferred from physical interaction	24927529	GOA
enables RNA polymerase I general transcription initiation factor activity	IDA IDA: Inferred from direct assay	12498690	GOA
enables RNA polymerase II core promoter sequence-specific DNA binding	IMP IMP: Inferred from mutant phenotype	25412659	GOA
enables RNA polymerase II general transcription initiation factor activity	IDA IDA: Inferred from direct assay	17996705	GOA
enables RNA polymerase II general transcription initiation factor activity	IGI IGI: Inferred from genetic interaction	25412659	GOA
enables RNA polymerase II general transcription initiation factor binding	IPI IPI: Inferred from physical interaction	8625415	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: Inferred from physical interaction	24289924	GOA
enables TBP-class protein binding	IPI IPI: Inferred from physical interaction	9660973	GOA
NOT enables acetyl-CoA binding	IDA IDA: Inferred from direct assay	24927529	GOA
enables histone acetyltransferase activity	IDA IDA: Inferred from direct assay	8980232	GOA
contributes to histone reader activity	IDA IDA: Inferred from direct assay	24927529	GOA
enables kinase activity	IDA IDA: Inferred from direct assay	18548200	GOA
enables lysine-acetylated histone binding	IDA IDA: Inferred from direct assay	17996705	GOA
enables nuclear receptor binding	IPI IPI: Inferred from physical interaction	20181722	GOA
enables p53 binding	IPI IPI: Inferred from physical interaction	15053879	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	7565781	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	25412659	GOA
enables protein kinase activity	IDA IDA: Inferred from direct assay	24289924	GOA
enables protein serine/threonine kinase activity	EXP EXP: Inferred from Experiment	15053879	GOA
enables protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	8625415	GOA
enables transcription regulator inhibitor activity	IDA IDA: Inferred from direct assay	24289924	GOA
enables ubiquitin conjugating enzyme activity	IDA IDA: Inferred from direct assay	20181722	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	24289924	GOA
involved in RNA polymerase II preinitiation complex assembly	IPI IPI: Inferred from physical interaction	27007846	GOA
involved in cellular response to ATP	IDA IDA: Inferred from direct assay	24289924	GOA
involved in cellular response to UV	IDA IDA: Inferred from direct assay	24289924	GOA
involved in mRNA transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	17884155	GOA
involved in midbrain development	IGI IGI: Inferred from genetic interaction	26637982	GOA
involved in negative regulation of gene expression	IMP IMP: Inferred from mutant phenotype	17237821	GOA
involved in negative regulation of protein autoubiquitination	IDA IDA: Inferred from direct assay	17237821	GOA
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	24289924	GOA
involved in negative regulation of ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	17237821	GOA
involved in peptidyl-serine phosphorylation	IDA IDA: Inferred from direct assay	8625415	GOA
involved in peptidyl-threonine phosphorylation	IDA IDA: Inferred from direct assay	15053879	GOA
involved in positive regulation of androgen receptor activity	IDA IDA: Inferred from direct assay	20181722	GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	15053879	GOA
involved in positive regulation of protein binding	IDA IDA: Inferred from direct assay	17237821	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	20181722	GOA
involved in positive regulation of transcription initiation by RNA polymerase II	IDA IDA: Inferred from direct assay	17884155	GOA
involved in protein autophosphorylation	IDA IDA: Inferred from direct assay	8625415	GOA
involved in protein phosphorylation	IDA IDA: Inferred from direct assay	18548200	GOA
involved in protein polyubiquitination	IDA IDA: Inferred from direct assay	20181722	GOA
involved in protein stabilization	IDA IDA: Inferred from direct assay	17237821	GOA
involved in transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	9660973	GOA
involved in transcription initiation at RNA polymerase I promoter	IGI IGI: Inferred from genetic interaction	12498690	GOA
involved in transcription initiation at RNA polymerase II promoter	IDA IDA: Inferred from direct assay	17996705	GOA
involved in transcription initiation at RNA polymerase II promoter	IGI IGI: Inferred from genetic interaction	25412659	GOA
involved in ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	20181722	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MLL1 complex	IDA IDA: Inferred from direct assay	15960975	GOA
located in chromatin	IDA IDA: Inferred from direct assay	20181722	GOA
colocalizes with nucleolus	IDA IDA: Inferred from direct assay	12498690	GOA
colocalizes with nucleoplasm	IDA IDA: Inferred from direct assay	12498690	GOA
located in nucleus	EXP EXP: Inferred from Experiment	23332750	GOA
located in nucleus	IDA IDA: Inferred from direct assay	12498690	GOA
part of transcription factor TFIID complex	IDA IDA: Inferred from direct assay	8625415	GOA
part of transcription factor TFIID complex	IPI IPI: Inferred from physical interaction	23332750	GOA
part of transcription regulator complex	IPI IPI: Inferred from physical interaction	25412659	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TAF1 Protein Structure

TBP-binding

DUF3591

zf-CCHC_6

Bromodomain

0
300
600
900
1200
1500
1872 a.a.

Protein Preferred Names	Protein Names
transcription initiation factor TFIID subunit 1	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa

TAF1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	TAF1	P21675	TBP	Homo sapiens	P20226	GMS	18391197
Intra	TAF1	P21675	GTF2F1	Homo sapiens	P35269	CoIP	7590250
Cross	TAF1	P21675	e1a_ade05	Human adenovirus C	P03255	Affinity Techniques	7565781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (21)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-107424	BAY-299	Inhibitor	99.40%	Unkown
HY-112803	GNE-371		98.06%	Unkown
HY-101088	CeMMEC13	Inhibitor	98.0%	Unkown
HY-117997	UMB-32	Inhibitor	99.11%	Unkown
HY-111445	CeMMEC1	Inhibitor	98.94%	Unkown
HY-78197	3,5-Dimethylisoxazole-4-boronic acid pinacol ester		99.07%	Unkown
HY-123621	GNE-375	Inhibitor	99.93%	Unkown
HY-176457	ZS3-046		/	Unkown
HY-150239	BAY-364	Inhibitor	/	Unkown
HY-176467	TAF1 ligand 1	Ligand	/	Unkown
HY-RS14157	TAF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14163	TAF1A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14164	TAF1C Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14165	TAF1D Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14166	TAF1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-111445A	CeMMEC1 hydrochloride	Inhibitor	/	Unkown
HY-RS16492	TAF1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17005	Taf1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22842	Taf1b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22843	Taf1d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23448	Taf1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TAF1	VGNC	VGNC:97834
Rattus norvegicus	TAF1	RGD	RGD:1562050
Mus musculus	TAF1	MGD	MGI:1336878