TAF8 TATA-box binding protein associated factor 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TAF8provided by HGNC
Official Full Name: TATA-box binding protein associated factor 8provided by HGNC
Primary source: HGNC:HGNC:17300
See related: Ensembl:ENSG00000137413 MIM:609514
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: II; TAF; TBN; TAFII43; TAFII-43; TAF(II)43
Summary: This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 3.7), lymph node (RPKM 3.4) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 6p21.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	6	NC_000006.12 (42050522..42083278)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (42018251..42055093)

Chromosome 6 - NC_000006.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TAF8 mutant protein with an unrelated C-terminus. The mutant TAF8 protein could not be detected in extracts from the patient's fibroblasts, indicating a loss of TAF8 function and that the mutation is most likely causative
Title: Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
the TAF2-TAF8-TAF10 complex demonstrates that there is a stepwise assembly pathway of nuclear holo-TFIID, regulated by nuclear import of preformed cytoplasmic submodules
Title: Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules.
Observational study of gene-disease association. (HuGE Navigator)
Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.

Submit: New GeneRIF Correction

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

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	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
	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

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

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Basal transcription factors, organism-specific biosystem (from KEGG)
Basal transcription factors, organism-specific biosystem
Basal transcription factors
Basal transcription factors, conserved biosystem (from KEGG)
Basal transcription factors, conserved biosystem
Basal transcription factors
Gene Expression, organism-specific biosystem (from REACTOME)
Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
RNA polymerase II transcribes snRNA genes, organism-specific biosystem (from REACTOME)
RNA polymerase II transcribes snRNA genes, organism-specific biosystemSmall nuclear RNAs (snRNAs) play key roles in splicing and some of them, specifically the U1 and U2 snRNAs, are encoded by multicopy snRNA gene clusters containing tandem arrays of genes, about 30 in...

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:312714 (e-PCR)
- UniSTS:156429

D8S2279 (e-PCR)
- UniSTS:473907

RH102785 (e-PCR)
- UniSTS:97119

D10S16 (e-PCR)
- UniSTS:155756

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

G35510 (e-PCR)
- UniSTS:44150

GDB:315881 (e-PCR)
- UniSTS:156545

RH103892 (e-PCR)
- UniSTS:98217

RH80031 (e-PCR)
- UniSTS:91103

Homology

Homologs of the TAF8 gene: The TAF8 gene is conserved in chimpanzee, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 287 organisms have orthologs with human gene TAF8
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell differentiation	IEA Inferred from Electronic Annotation more info
inner cell mass cell proliferation	IEA Inferred from Electronic Annotation more info
maintenance of protein location in nucleus	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-templated	IDA Inferred from Direct Assay more info	PubMed
regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
snRNA transcription by RNA polymerase II	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed
perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription initiation factor TFIID subunit 8

Names: TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa; TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa; TBP-associated factor 43 kDa; TBP-associated factor 8; TBP-associated factor TAFII43; TBP-associated factor, RNA polymerase II, 43 kD; hTAFII43; protein taube nuss; taube nuss homolog; transcription initiation factor TFIID 43 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_138572.3 → NP_612639.2 transcription initiation factor TFIID subunit 8

See identical proteins and their annotated locations for NP_612639.2

Status: REVIEWED

Source sequence(s)

AF465841, AL512274, BI828714

Consensus CDS

CCDS43462.1

UniProtKB/Swiss-Prot

Q7Z7C8

Related

ENSP00000362068.3, ENST00000372977.8

Conserved Domains (2) summary

cd08049
Location:144 → 197

TAF8; TATA Binding Protein (TBP) Associated Factor 8

pfam07524
Location:29 → 106

Bromo_TP; Bromodomain associated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p13 Primary Assembly

Range

42050522..42083278

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017010241.2 → XP_016865730.1 transcription initiation factor TFIID subunit 8 isoform X2

Related

ENSP00000411900.2, ENST00000456846.6
XM_011514296.2 → XP_011512598.1 transcription initiation factor TFIID subunit 8 isoform X1

See identical proteins and their annotated locations for XP_011512598.1

UniProtKB/Swiss-Prot

Q7Z7C8

Related

ENSP00000417867.1, ENST00000494547.5

Conserved Domains (3) summary

cd08049
Location:144 → 197

TAF8; TATA Binding Protein (TBP) Associated Factor 8

pfam07524
Location:29 → 106

Bromo_TP; Bromodomain associated

pfam13900
Location:266 → 303

GVQW; Putative domain of unknown function
XM_017010244.2 → XP_016865733.1 transcription initiation factor TFIID subunit 8 isoform X5
XM_017010245.1 → XP_016865734.1 transcription initiation factor TFIID subunit 8 isoform X6
XM_005248849.2 → XP_005248906.1 transcription initiation factor TFIID subunit 8 isoform X7

Related

ENSP00000362069.3, ENST00000372978.7

Conserved Domains (2) summary

pfam07524
Location:29 → 106

Bromo_TP; Bromodomain associated

pfam10406
Location:145 → 163

TAF8_C; Transcription factor TFIID complex subunit 8 C-term
XM_017010242.2 → XP_016865731.1 transcription initiation factor TFIID subunit 8 isoform X3
XM_017010243.2 → XP_016865732.1 transcription initiation factor TFIID subunit 8 isoform X4

Related

ENSP00000418029.1, ENST00000465926.5