TAF4 TATA-box binding protein associated factor 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF4provided by HGNC
Official Full Name: TATA-box binding protein associated factor 4provided by HGNC
Primary source: HGNC:HGNC:11537
See related: Ensembl:ENSG00000130699 MIM:601796; AllianceGenome:HGNC:11537
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRD73; TAF2C; TAF4A; TAF2C1; TAFII130; TAFII135; TAFII-130; TAFII-135; TAF(II)130; TAF(II)135
Summary: Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (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 one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in testis (RPKM 7.8), ovary (RPKM 4.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.33

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (61974798..62065881, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (63763185..63856685, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (60549854..60640937, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
Title: De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.
alphaalpha-hub coregulator structure and flexibility determine transcription factor binding and selection in regulatory interactomes.
Title: αα-hub coregulator structure and flexibility determine transcription factor binding and selection in regulatory interactomes.
Targeted splicing of hTAF4-TAFH coordinates AS of other TFIID subunits, underscoring the role of TAF4 in synchronised changes of Pol II complex composition essential for efficient cellular reprogramming.
Title: Targeted alternative splicing of TAF4: a new strategy for cell reprogramming.
Identification of heteromolecular binding sites in transcription factors Sp1 and TAF4 using high-resolution nuclear magnetic resonance spectroscopy has been reported.
Title: Identification of heteromolecular binding sites in transcription factors Sp1 and TAF4 using high-resolution nuclear magnetic resonance spectroscopy.
Data suggest that many TATA-box-containing promoters contain a TFIIA recognition element (IIARE) that activates transcription by increasing the recruitment of RNA polymerase II, TFIIA (TF2A1/TF2A2 subunits), TAF4, and P300. (TAF4 = TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1; P300 = E1A binding protein p300)
Title: A transcription factor IIA-binding site differentially regulates RNA polymerase II-mediated transcription in a promoter context-dependent manner.
the two Q-domains of Sp1 and four Q-domains of TAF4 were disordered under physiological conditions.
Title: Interaction between intrinsically disordered regions in transcription factors Sp1 and TAF4.
Inactivation of hTAF4-TAFH domain accelerates differentiation of human neural progenitor cells.
Title: TAF4 controls differentiation of human neural progenitor cells through hTAF4-TAFH activity.
TAF4 isoforms generated by the alternative splicing participate in the conversion of the cellular transcriptional programs from the maintenance of stem cell state to differentiation
Title: Alternative splicing targeting the hTAF4-TAFH domain of TAF4 represses proliferation and accelerates chondrogenic differentiation of human mesenchymal stem cells.
These interactions are important to the transcriptional activation of these genes by Rta since introducing TAF4 shRNA substantially reduces the ability of Rta to activate these promoters
Title: Role of TAF4 in transcriptional activation by Rta of Epstein-Barr Virus.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Intellectual developmental disorder, autosomal dominant 73 MedGen: C5830636 OMIM: 620450 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Interaction of TFIID with the HIV-1 LTR, and therefore presumably HIV-1 Tat protein, is primarily dependent on the LTR TATA element and may also be stabilized or regulated by flanking E box motifs and basic helix-loop-helix proteins such as AP-4 and E47	PubMed
	tat	TATA binding protein (TBP)-associated factors (TAFs) in the TFIID complex are required for activation by transcription factors, but are dispensable for HIV-1 Tat LTR transactivation function	PubMed
	tat	HIV-1 Tat stabilizes the interaction of TFIIA with TFIID, and TFIIA and TFIID are required to reconstitute Tat-specific and TAR-dependent activation of HIV transcription in vitro	PubMed
	tat	HIV-1 Tat binds, through amino acids 36-50, directly to the TBP subunit of the TFIID holoenzyme complex (which includes at least TFIID subunits p250, p125, p70, TBP, and p30), and increases the interaction of TFIID with the HIV-1 LTR promoter	PubMed
	tat	A novel function of LBP-1, restricting HIV-1 transcription at the level of elongation by preventing the binding of TFIID to the promoter, is suppressed by HIV-1 Tat, indicating Tat helps recruit TFIID to the HIV-1 LTR	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-146135 (e-PCR)
- UniSTS:172552

G20531 (e-PCR)
- UniSTS:76665

A005V13 (e-PCR)
- UniSTS:76666

RH91308 (e-PCR)
- UniSTS:85973

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to RNA polymerase II general transcription initiation factor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables aryl hydrocarbon receptor binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in DNA-templated transcription initiation	IDA Inferred from Direct Assay more info	PubMed
involved_in RNA polymerase II preinitiation complex assembly	IPI Inferred from Physical Interaction more info	PubMed
involved_in mRNA transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in ovarian follicle development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA repair	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of MLL1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in male germ cell nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	EXP Inferred from Experiment more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of transcription factor TFIID complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIID complex	IPI Inferred from Physical Interaction more info	PubMed
part_of transcription factor TFTC complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFTC complex	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 4

Names: RNA polymerase II TBP-associated factor subunit C; TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa; TAF4A RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135 kD; TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD; TBP-associated factor 4; transcription initiation factor TFIID 130 kDa subunit; transcription initiation factor TFIID 135 kD subunit; transcription initiation factor TFIID 135 kDa subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_003185.4 → NP_003176.2 transcription initiation factor TFIID subunit 4

See identical proteins and their annotated locations for NP_003176.2

Status: REVIEWED

Source sequence(s)

AL109911, AL137077

Consensus CDS

CCDS33500.1

UniProtKB/Swiss-Prot

A6NGD9, O00268, Q5TBP6, Q99721, Q9BR40, Q9BX42

Related

ENSP00000252996.3, ENST00000252996.9

Conserved Domains (2) summary

pfam05236
Location:834 → 1082

TAF4; Transcription initiation factor TFIID component TAF4 family

pfam07531
Location:592 → 675

TAFH; NHR1 homology to TAF