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

Gene ID: 129685, updated on 8-Dec-2022

Summary

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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; AllianceGenome:HGNC:17300
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; NEDMLHB; 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
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Genomic context

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See TAF8 in Genome Data Viewer
Location:
6p21.1
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42050524..42087462)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (41878783..41911515)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42018262..42051010)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cyclin D3 Neighboring gene Sharpr-MPRA regulatory regions 12575 and 14060 Neighboring gene skeletal muscle cis-regulatory module in CCND3 intron Neighboring gene Sharpr-MPRA regulatory region 7068 Neighboring gene chromosome 6 open reading frame 132 Neighboring gene GUCA1ANB-GUCA1A readthrough Neighboring gene GUCA1A neighbor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genomics and transcription analysis of human TFIID. Purrello M, et al. Oncogene, 1998 Mar 26. PMID 9569032
  2. Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription. El-Saafin F, et al. Hum Mol Genet, 2018 Jun 15. PMID 29648665, Free PMC Article
  3. Cytoplasmic TAF2-TAF8-TAF10 complex provides evidence for nuclear holo-TFIID assembly from preformed submodules. Trowitzsch S, et al. Nat Commun, 2015 Jan 14. PMID 25586196, Free PMC Article
  4. TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival. Scheer E, et al. J Biol Chem, 2021 Nov. PMID 34634302, Free PMC Article
  5. Positive and negative TAF(II) functions that suggest a dynamic TFIID structure and elicit synergy with traps in activator-induced transcription. Guermah M, et al. Mol Cell Biol, 2001 Oct. PMID 11564872, Free PMC Article

See all (52) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
    Title: TAF8 regions important for TFIID lobe B assembly or for TAF2 interactions are required for embryonic stem cell survival.
  2. 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.
  3. 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.
  4. 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

Associated conditions

Description Tests
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
MedGen: CN315825 OMIM: 619972 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)

Genotypes

Pathways from PubChem

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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

Homology

Clone Names

  • FLJ32821

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA polymerase II general transcription initiation factor activity IC
Inferred by Curator
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
acts_upstream_of_or_within DNA-templated transcription open complex formation 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 RNA polymerase II preinitiation complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in inner cell mass cell proliferation IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in maintenance of protein location in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of transcription initiation by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein phosphorylation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of fat cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in transcription initiation at RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
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 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of transcription factor TFIID complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 TFIID complex ISS
Inferred from Sequence or Structural Similarity
more info
  

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)

  1. NM_001410906.1 → NP_001397835.1  transcription initiation factor TFIID subunit 8 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL512274, AL513008
    Consensus CDS
    CCDS93918.1
    UniProtKB/TrEMBL
    A0A8I5QL44

  2. NM_001410907.1 → NP_001397836.1  transcription initiation factor TFIID subunit 8 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL512274, AL513008
    Consensus CDS
    CCDS93919.1

  3. NM_138572.3 → NP_612639.2  transcription initiation factor TFIID subunit 8 isoform 1

    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, Q96M52
    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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    42050524..42087462
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418177.1 → XP_047274133.1  transcription initiation factor TFIID subunit 8 isoform X4

  2. XM_047418174.1 → XP_047274130.1  transcription initiation factor TFIID subunit 8 isoform X1

    Related
    ENSP00000362073.4, ENST00000372982.8

  3. XM_047418176.1 → XP_047274132.1  transcription initiation factor TFIID subunit 8 isoform X3

    Related
    ENSP00000411900.2, ENST00000456846.6

  4. XM_047418178.1 → XP_047274134.1  transcription initiation factor TFIID subunit 8 isoform X6

  5. XM_017010245.2 → XP_016865734.1  transcription initiation factor TFIID subunit 8 isoform X7

    UniProtKB/TrEMBL
    A0A8I5KXI2
    Related
    ENSP00000510369.1, ENST00000687601.1

  6. XM_017010241.3 → XP_016865730.1  transcription initiation factor TFIID subunit 8 isoform X2

    Related
    ENSP00000510786.1, ENST00000686229.1

  7. XM_017010244.3 → XP_016865733.1  transcription initiation factor TFIID subunit 8 isoform X5

  8. XM_047418175.1 → XP_047274131.1  transcription initiation factor TFIID subunit 8 isoform X1

    Related
    ENSP00000417867.1, ENST00000494547.5

  9. XM_005248849.3 → XP_005248906.1  transcription initiation factor TFIID subunit 8 isoform X8

    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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    41878783..41911515
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z7C8.1 GenPept UniProtKB/Swiss-Prot:Q7Z7C8

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