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

    Gene ID: 9044, updated on 5-Mar-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
    mouse all
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    Genomic context

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    Location:
    10q23.32
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (91923770..92031437)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (92805881..92913817)
    105.20220307 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 succinate dehydrogenase complex subunit C 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
    • 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 (77) 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)

    Genotypes

    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 ATP-dependent chromatin remodeler activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    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_2023_10

    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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