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BTAF1 B-TFIID TATA-box binding protein associated factor 1 [ Homo sapiens (human) ]

Gene ID: 9044, updated on 14-Nov-2024

Summary

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Official Symbol
BTAF1provided by HGNC
Official Full Name
B-TFIID TATA-box binding protein associated factor 1provided by HGNC
Primary source
HGNC:HGNC:17307
See related
Ensembl:ENSG00000095564 MIM:605191; AllianceGenome:HGNC:17307
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MOT1; TAF172; TAFII170; TAF(II)170
Summary
This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]
Expression
Ubiquitous expression in skin (RPKM 23.9), lymph node (RPKM 17.7) and 25 other tissues See more
Orthologs
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Genomic context

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See BTAF1 in Genome Data Viewer
Location:
10q23.32
Exon count:
44
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (91923770..92031437)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (92805881..92913817)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (93683527..93791194)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr10:93580083-93580584 Neighboring gene tankyrase 2 Neighboring gene signal recognition particle 9 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:93640869-93641370 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:93641371-93641870 Neighboring gene Sharpr-MPRA regulatory region 9903 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:93682269-93682802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2611 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3766 Neighboring gene fibroblast growth factor binding protein 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:93805711-93806387 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:93816841-93817342 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:93835428-93836089 Neighboring gene cytoplasmic polyadenylation element binding protein 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3767 Neighboring gene uncharacterized LOC107984254 Neighboring gene SDHC pseudogene 2

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 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. Bypassing the requirements for epigenetic modifications in gene transcription by increasing enhancer strength. Koutroubas G, et al. Mol Cell Biol, 2008 Feb. PMID 18025106, Free PMC Article
  2. Cryo-electron microscopy studies of human TFIID: conformational breathing in the integration of gene regulatory cues. Grob P, et al. Structure, 2006 Mar. PMID 16531235
  3. Molecular architecture of the basal transcription factor B-TFIID. Pereira LA, et al. J Biol Chem, 2004 May 21. PMID 14988402
  4. The gene for human TATA-binding-protein-associated factor (TAFII) 170: structure, promoter and chromosomal localization. Van Der Knaap JA, et al. Biochem J, 2000 Feb 1. PMID 10642510, Free PMC Article
  5. Cloning of the cDNA for the TATA-binding protein-associated factorII170 subunit of transcription factor B-TFIID reveals homology to global transcription regulators in yeast and Drosophila. van der Knaap JA, et al. Proc Natl Acad Sci U S A, 1997 Oct 28. PMID 9342322, Free PMC Article

See all (84) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Results support a model for a BTAF1-mediated release of TBP-NC2 complexes from chromatin.
    Title: Chromatin interaction of TATA-binding protein is dynamically regulated in human cells.
  2. 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.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
  4. histone acetylation, although it occurs, is dispensable for TFIID and SWI/SNF recruitment by the strong enhancers
    Title: Bypassing the requirements for epigenetic modifications in gene transcription by increasing enhancer strength.
  5. We propose that these density rearrangements in the structure are a likely reflection of the plasticity of the interactions between TFIID and its many partner proteins.
    Title: Cryo-electron microscopy studies of human TFIID: conformational breathing in the integration of gene regulatory cues.
  6. study with the first structural model of the B-TFIID complex and map of its key functional domains
    Title: Molecular architecture of the basal transcription factor B-TFIID.
  7. physical cooperation between BTAF1 and NC2alpha in TBP regulation
    Title: NC2alpha interacts with BTAF1 and stimulates its ATP-dependent association with TATA-binding protein.
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 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 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

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0940, MGC138406

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent activity, acting on DNA IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables TBP-class protein binding IEA
Inferred from Electronic Annotation
more info
  
enables helicase activity IEA
Inferred from Electronic Annotation
more info
  
enables transcription coregulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within negative regulation of chromatin binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
TATA-binding protein-associated factor 172
Names
ATP-dependent helicase BTAF1
B-TFIID transcription factor-associated 170 kDa subunit
BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)
Mot1 homolog
TBP-associated factor 172

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_003972.3 → NP_003963.1  TATA-binding protein-associated factor 172

    See identical proteins and their annotated locations for NP_003963.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    AF038362, AL365398, DB164703
    Consensus CDS
    CCDS7419.1
    UniProtKB/Swiss-Prot
    B4E0W6, O14981, O43578
    UniProtKB/TrEMBL
    Q2M1V9
    Related
    ENSP00000265990.6, ENST00000265990.12
    Conserved Domains (3) summary
    COG0553
    Location:1236 → 1801
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    sd00044
    Location:352 → 377
    HEAT; HEAT repeat [structural motif]
    pfam12054
    Location:594 → 1051
    DUF3535; Domain of unknown function (DUF3535)

RNA

  1. NR_165090.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  2. NR_165091.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  3. NR_165092.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  4. NR_165093.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  5. NR_165094.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  6. NR_165095.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  7. NR_165096.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  8. NR_165097.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  9. NR_165098.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  10. NR_165099.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  11. NR_165101.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  12. NR_165102.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  13. NR_165103.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

  14. NR_165104.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL359198, AL365398

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    91923770..92031437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011540326.3 → XP_011538628.1  TATA-binding protein-associated factor 172 isoform X1

    Conserved Domains (5) summary
    COG0553
    Location:1199 → 1764
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    COG1413
    Location:259 → 554
    HEAT; HEAT repeat [General function prediction only]
    sd00044
    Location:352 → 377
    HEAT; HEAT repeat [structural motif]
    cd17999
    Location:1229 → 1466
    DEXHc_Mot1; DEXH-box helicase domain of Mot1
    pfam12054
    Location:549 → 1014
    DUF3535; Domain of unknown function (DUF3535)

  2. XM_017016877.2 → XP_016872366.1  TATA-binding protein-associated factor 172 isoform X2

  3. XM_011540327.3 → XP_011538629.1  TATA-binding protein-associated factor 172 isoform X3

    Conserved Domains (4) summary
    COG0553
    Location:1112 → 1677
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    sd00044
    Location:228 → 253
    HEAT; HEAT repeat [structural motif]
    cd17999
    Location:1142 → 1379
    DEXHc_Mot1; DEXH-box helicase domain of Mot1
    pfam12054
    Location:462 → 927
    DUF3535; Domain of unknown function (DUF3535)

  4. XM_011540328.3 → XP_011538630.1  TATA-binding protein-associated factor 172 isoform X4

    Conserved Domains (4) summary
    COG0553
    Location:1080 → 1645
    HepA; Superfamily II DNA or RNA helicase, SNF2 family [Transcription, Replication, recombination and repair]
    sd00044
    Location:196 → 221
    HEAT; HEAT repeat [structural motif]
    cd17999
    Location:1110 → 1347
    DEXHc_Mot1; DEXH-box helicase domain of Mot1
    pfam12054
    Location:430 → 895
    DUF3535; Domain of unknown function (DUF3535)

  5. XM_047425989.1 → XP_047281945.1  TATA-binding protein-associated factor 172 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    92805881..92913817
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367116.1 → XP_054223091.1  TATA-binding protein-associated factor 172 isoform X1

  2. XM_054367117.1 → XP_054223092.1  TATA-binding protein-associated factor 172 isoform X2

  3. XM_054367118.1 → XP_054223093.1  TATA-binding protein-associated factor 172 isoform X3

  4. XM_054367119.1 → XP_054223094.1  TATA-binding protein-associated factor 172 isoform X4

  5. XM_054367120.1 → XP_054223095.1  TATA-binding protein-associated factor 172 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_165100.1: Suppressed sequence

    Description
    NR_165100.1: This RefSeq was removed because it was a duplicate of NR_165099.1.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O14981.2 GenPept UniProtKB/Swiss-Prot:O14981

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