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TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa [ Homo sapiens (human) ]

Gene ID: 6872, updated on 12-Dec-2014
Official Symbol
TAF1provided by HGNC
Official Full Name
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDaprovided by HGNC
Primary source
HGNC:HGNC:11535
See related
Ensembl:ENSG00000147133; HPRD:02436; MIM:313650; Vega:OTTHUMG00000022723
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
OF; XDP; BA2R; CCG1; CCGS; DYT3; KAT4; P250; NSCL2; TAF2A; N-TAF1; TAFII250; DYT3/TAF1; TAFII-250; TAF(II)250
Summary
Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor 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 the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
See TAF1 in Epigenomics, MapViewer
Location:
Xq13.1
Exon count:
44
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (71366239..71530525)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70586094..70685855)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger CCHC-type and RNA binding motif 1 pseudogene Neighboring gene ras homolog family member G pseudogene Neighboring gene poly(A) binding protein, nuclear 1 pseudogene Neighboring gene inhibitor of growth family, X-linked, pseudogene Neighboring gene suppressor of cytokine signaling 6 pseudogene Neighboring gene O-linked N-acetylglucosamine (GlcNAc) transferase Neighboring gene acidic repeat containing

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat stimulates the phosphorylation of TFIIF by TAFII250 during Tat-mediated transcription of the HIV-1 LTR promoter 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 HIV-1 Tat binding to TAFII250 inhibits TAFII250 histone acetyltransferase activity and TAFII250-dependent transcription of the MHC class I and beta2-microglobulin promoters 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 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 Amino acids (aa) 67-101 (C-term. domain) of HIV-1 Tat bind to aa 848-1279 of TAFII250, while Tat aa 18-36 (cysteine-rich domain) and 36-56 (includes basic domain) bind to TAFII250 aa 885-984 (AT domain) and 1120-1279 (Rap74 binding domain), respectively PubMed

Go to the HIV-1, Human Interaction Database

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
TBP-class protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
histone acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
lysine-acetylated histone binding IDA
Inferred from Direct Assay
more info
PubMed 
p53 binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to transcription regulatory region DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
DNA-templated transcription, initiation ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II transcriptional preinitiation complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cellular response to DNA damage stimulus IC
Inferred by Curator
more info
PubMed 
gene expression TAS
Traceable Author Statement
more info
 
histone acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone acetylation IEA
Inferred from Electronic Annotation
more info
 
peptidyl-serine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-threonine phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of transcription initiation from RNA polymerase II promoter ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
protein autophosphorylation TAS
Traceable Author Statement
more info
PubMed 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
MLL1 complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription factor TFIID complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription initiation factor TFIID subunit 1
Names
transcription initiation factor TFIID subunit 1
cell cycle gene 1 protein
cell cycle, G1 phase defect
TBP-associated factor 250 kDa
transcription factor TFIID p250 polypeptide
complementation of cell cycle block, G1-to-S
NP_001273003.1
NP_004597.2
NP_620278.1

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.

Genomic

  1. NG_012771.2 

    Range
    4976..169262
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286074.1NP_001273003.1  transcription initiation factor TFIID subunit 1 isoform 3

    See proteins identical to NP_001273003.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3, also known as neuron specific isoform or N-TAF1).
    Source sequence(s)
    AB300418, BP284702, BQ027170
    Consensus CDS
    CCDS69783.1
    UniProtKB/Swiss-Prot
    P21675
    Related
    ENSP00000406549, ENST00000423759
    Conserved Domains (4) summary
    cd05511
    Location:15281640
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5861049
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12821317
    zf-CCHC_6; Zinc knuckle
  2. NM_004606.4NP_004597.2  transcription initiation factor TFIID subunit 1 isoform 1

    See proteins identical to NP_004597.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3, resulting in an isoform (1) that is 2 aa shorter than isoform 3. The exon combination of this variant is supported by mRNA annotation on DNA accession AY623109.1.
    Source sequence(s)
    AB209316, AB300418, BP284702, BQ027170
    Consensus CDS
    CCDS14412.1
    UniProtKB/Swiss-Prot
    P21675
    Conserved Domains (4) summary
    cd05511
    Location:15281640
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5861049
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12821317
    zf-CCHC_6; Zinc knuckle
  3. NM_138923.3NP_620278.1  transcription initiation factor TFIID subunit 1 isoform 2

    See proteins identical to NP_620278.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
    Source sequence(s)
    AB300418, BP284702, BQ027170, D90359
    Consensus CDS
    CCDS35325.1
    UniProtKB/Swiss-Prot
    P21675
    Related
    ENSP00000362895, OTTHUMP00000024334, ENST00000373790, OTTHUMT00000058995
    Conserved Domains (4) summary
    cd05511
    Location:15071619
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5651028
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12611296
    zf-CCHC_6; Zinc knuckle

RNA

  1. NR_104387.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as 2a) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ549248.3 and data in PMID: 12928496.
    Source sequence(s)
    AB300418, AJ549248, BP284702
  2. NR_104388.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5, also known as 2b) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ549249.2 and data in PMID: 12928496.
    Source sequence(s)
    AB300418, AJ549249, BP284702
  3. NR_104389.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as 2c) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ549250.3 and data in PMID: 12928496.
    Source sequence(s)
    AB300418, AJ549250, BP284702
  4. NR_104390.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7, also known as 2d) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ555148.2 and data in PMID: 12928496.
    Source sequence(s)
    AB300418, AJ555148, BP284702
  5. NR_104391.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8, also known as 2e) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AJ555149.2 and data in PMID: 12928496.
    Source sequence(s)
    AB300418, AJ555149, BP284702
  6. NR_104392.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9, also known as 2f) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711892.1 and data in PMID: 17952504.
    Source sequence(s)
    AB300418, AJ549248, AM711892, BP284702
  7. NR_104393.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10, also known as 2g) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711893.1 and data in PMID: 17952504.
    Source sequence(s)
    AB300418, AJ549248, AM711893, BP284702
  8. NR_104394.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (11, also known as 2h) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711894.1 and data in PMID: 17952504.
    Source sequence(s)
    AB300418, AJ549248, AM711894, BP284702
  9. NR_104395.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (12, also known as 2i) includes a combination of TAF1 and DYT3 exons, and it thus contains alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). The 5' exon structure of this transcript is inferred from transcript alignments, while the 3' exon structure is supported by accession AM711895.1 and data in PMID: 17952504.
    Source sequence(s)
    AB300418, AJ549248, AM711895, BP284702
  10. NR_104396.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (13, also known as 3) includes independently transcribed DYT3 exons only and it thus lacks similarity to variant 3, but it shares DYT3 exon structure with variants 4 through 12. This variant is represented as non-coding because it lacks the entire coding region found in variant 3. This variant is supported by accession AJ549246.2 and data in PMIDs: 12928496 and 23184149.
    Source sequence(s)
    AJ549246
    Related
    ENST00000497222

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    71366239..71530525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262297.2XP_005262354.1  

    UniProtKB/Swiss-Prot
    P21675
    Conserved Domains (4) summary
    cd05511
    Location:15071619
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5651028
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12611296
    zf-CCHC_6; Zinc knuckle
  2. XM_005262295.1XP_005262352.1  

    See proteins identical to XP_005262352.1

    Conserved Domains (4) summary
    cd05511
    Location:15281640
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5861049
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12821317
    zf-CCHC_6; Zinc knuckle
  3. XM_006724680.1XP_006724743.1  

    Conserved Domains (4) summary
    cd05511
    Location:15281640
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5861049
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12821317
    zf-CCHC_6; Zinc knuckle
  4. XM_005262296.1XP_005262353.1  

    Conserved Domains (4) summary
    cd05511
    Location:15271639
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5861049
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12811316
    zf-CCHC_6; Zinc knuckle
  5. XM_006724681.1XP_006724744.1  

    Related
    ENSP00000276072, OTTHUMP00000024335, ENST00000276072, OTTHUMT00000058996
    Conserved Domains (4) summary
    cd05511
    Location:15281640
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:5861049
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:12821317
    zf-CCHC_6; Zinc knuckle
  6. XM_005262300.1XP_005262357.1  

    Conserved Domains (2) summary
    pfam09247
    Location:2687
    TBP-binding; TATA box-binding protein binding
    pfam12157
    Location:586999
    DUF3591; Protein of unknown function (DUF3591)
  7. XM_006724682.1XP_006724745.1  

    Conserved Domains (3) summary
    cd05511
    Location:14011513
    Bromo_TFIID; Bromodomain, TFIID-like subfamily. Human TAFII250 (or TAF250) is the largest subunit of TFIID, a large multi-domain complex, which initiates the assembly of the transcription machinery. TAFII250 contains two bromodomains that specifically bind to ...
    pfam12157
    Location:459922
    DUF3591; Protein of unknown function (DUF3591)
    pfam15288
    Location:11551190
    zf-CCHC_6; Zinc knuckle

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    70479113..70642732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    64401834..64565500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)