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    TAF1 TATA-box binding protein associated factor 1 [ Homo sapiens (human) ]

    Gene ID: 6872, updated on 2-May-2024

    Summary

    Official Symbol
    TAF1provided by HGNC
    Official Full Name
    TATA-box binding protein associated factor 1provided by HGNC
    Primary source
    HGNC:HGNC:11535
    See related
    Ensembl:ENSG00000147133 MIM:313650; AllianceGenome:HGNC:11535
    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; MRXS33; 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.8), endometrium (RPKM 5.4) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TAF1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    47
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (71366357..71530525)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (69800459..69963776)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (70586207..70750375)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ZCRB1 pseudogene 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:70560484-70561404 Neighboring gene uncharacterized LOC124905198 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:70584971-70585540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29743 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:70586817-70587512 Neighboring gene RHOG family member 2, pseudogene Neighboring gene PABPN1 pseudogene 1 Neighboring gene uncharacterized LOC124905281 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:70671287-70672283 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:70672284-70673279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20898 Neighboring gene inhibitor of growth family, X-linked (pseudogene) Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:70752005-70753204 Neighboring gene SOCS6 pseudogene 1 Neighboring gene O-linked N-acetylglucosamine (GlcNAc) transferase Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:70798494-70799135 Neighboring gene Sharpr-MPRA regulatory region 14051 Neighboring gene germ cell nuclear acidic peptidase

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to H3K27me3 modified histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase I general transcription initiation factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II core promoter sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables RNA polymerase II general transcription initiation factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II general transcription initiation factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II general transcription initiation factor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables RNA polymerase II general transcription initiation factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables TBP-class protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables TBP-class protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT enables acetyl-CoA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT enables histone acetyltransferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables nuclear receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables p53 binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables transcription regulator inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin conjugating enzyme activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in RNA polymerase II preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 cellular response to ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling 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 midbrain development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of androgen receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II 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 autophosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein autophosphorylation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cell cycle G1/S phase transition TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    involved_in transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transcription initiation at RNA polymerase I promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transcription initiation at RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transcription initiation at RNA polymerase II promoter IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transcription initiation at RNA polymerase II promoter ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    part_of transcription factor TFIID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    part_of transcription factor TFIID complex TAS
    Traceable Author Statement
    more info
    PubMed 
    part_of transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    transcription initiation factor TFIID subunit 1
    Names
    TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
    TBP-associated factor 250 kDa
    cell cycle gene 1 protein
    cell cycle, G1 phase defect
    complementation of cell cycle block, G1-to-S
    transcription factor TFIID p250 polypeptide
    NP_001273003.2
    NP_004597.3
    NP_620278.2
    XP_005262357.2
    XP_024308198.2
    XP_047298347.1
    XP_047298348.1
    XP_047298349.1
    XP_047298350.1
    XP_047298351.1
    XP_047298352.1
    XP_047298353.1
    XP_047298354.1
    XP_047298355.1
    XP_047298356.1
    XP_047298357.1
    XP_047298358.1
    XP_047298359.1
    XP_047298360.1
    XP_047298361.1
    XP_047298362.1
    XP_054183603.1
    XP_054183604.1
    XP_054183605.1
    XP_054183606.1
    XP_054183607.1
    XP_054183608.1
    XP_054183609.1
    XP_054183610.1
    XP_054183611.1
    XP_054183612.1
    XP_054183613.1
    XP_054183614.1
    XP_054183615.1
    XP_054183616.1
    XP_054183617.1
    XP_054183618.1
    XP_054183619.1
    XP_054183620.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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 RefSeqGene

      Range
      5094..104742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286074.2NP_001273003.2  transcription initiation factor TFIID subunit 1 isoform 3

      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, AL590763
      UniProtKB/Swiss-Prot
      A5CVC8, A5CVC9, A5CVD0, A5CVD1, B1Q2X3, P21675, Q59FZ3, Q6IUZ1, Q70Q86, Q70Q87, Q70T00, Q70T01, Q70T02, Q70T03
      Related
      ENSP00000276072.5, ENST00000276072.9
      Conserved Domains (4) summary
      cd05511
      Location:15081620
      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:866
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5661029
      DUF3591; Protein of unknown function (DUF3591)
      pfam15288
      Location:12621297
      zf-CCHC_6; Zinc knuckle
    2. NM_004606.5NP_004597.3  transcription initiation factor TFIID subunit 1 isoform 1

      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)
      AB300418, AL590763
      Consensus CDS
      CCDS14412.2
      UniProtKB/Swiss-Prot
      A5CVC8, A5CVC9, A5CVD0, A5CVD1, B1Q2X3, P21675, Q59FZ3, Q6IUZ1, Q70Q86, Q70Q87, Q70T00, Q70T01, Q70T02, Q70T03
      Related
      ENSP00000406549.2, ENST00000423759.6
      Conserved Domains (5) summary
      cd05511
      Location:15081620
      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:866
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5661029
      DUF3591; Protein of unknown function (DUF3591)
      pfam15288
      Location:12621297
      zf-CCHC_6; Zinc knuckle
      NF033845
      Location:16361872
      MSCRAMM_ClfB; MSCRAMM family adhesin clumping factor ClfB
    3. NM_138923.4NP_620278.2  transcription initiation factor TFIID subunit 1 isoform 2

      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)
      AL590763, D90359
      Consensus CDS
      CCDS35325.2
      UniProtKB/Swiss-Prot
      A5CVC8, A5CVC9, A5CVD0, A5CVD1, B1Q2X3, P21675, Q59FZ3, Q6IUZ1, Q70Q86, Q70Q87, Q70T00, Q70T01, Q70T02, Q70T03
      Related
      ENSP00000362895.5, ENST00000373790.9
      Conserved Domains (5) summary
      cd05511
      Location:14871599
      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 ...
      NF033609
      Location:16161851
      MSCRAMM_ClfA; MSCRAMM family adhesin clumping factor ClfA
      pfam09247
      Location:866
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5451008
      DUF3591; Protein of unknown function (DUF3591)
      pfam15288
      Location:12411276
      zf-CCHC_6; Zinc knuckle

    RNA

    1. NR_104387.2 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, AL590763
    2. NR_104388.2 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, AL590763
    3. NR_104389.2 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, AL590763
    4. NR_104390.2 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, AL590763
    5. NR_104391.2 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, AL590763
    6. NR_104392.2 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, AL590763, AM711892
    7. NR_104393.2 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, AL590763, AM711893
    8. NR_104394.2 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, AL590763, AM711894
    9. NR_104395.2 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, AL590763, AM711895
    10. NR_104396.2 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

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      71366357..71530525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047442397.1XP_047298353.1  transcription initiation factor TFIID subunit 1 isoform X7

    2. XM_047442401.1XP_047298357.1  transcription initiation factor TFIID subunit 1 isoform X11

    3. XM_047442398.1XP_047298354.1  transcription initiation factor TFIID subunit 1 isoform X8

    4. XM_047442402.1XP_047298358.1  transcription initiation factor TFIID subunit 1 isoform X12

    5. XM_047442403.1XP_047298359.1  transcription initiation factor TFIID subunit 1 isoform X13

    6. XM_047442391.1XP_047298347.1  transcription initiation factor TFIID subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HIC2
      Related
      ENSP00000506996.1, ENST00000683782.1
    7. XM_047442395.1XP_047298351.1  transcription initiation factor TFIID subunit 1 isoform X5

    8. XM_047442392.1XP_047298348.1  transcription initiation factor TFIID subunit 1 isoform X2

    9. XM_047442396.1XP_047298352.1  transcription initiation factor TFIID subunit 1 isoform X6

    10. XM_047442393.1XP_047298349.1  transcription initiation factor TFIID subunit 1 isoform X3

    11. XM_047442399.1XP_047298355.1  transcription initiation factor TFIID subunit 1 isoform X9

      Conserved Domains (5) summary
      cd05511
      Location:14871599
      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 ...
      NF033609
      Location:16161851
      MSCRAMM_ClfA; MSCRAMM family adhesin clumping factor ClfA
      pfam09247
      Location:866
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5451008
      DUF3591; Protein of unknown function (DUF3591)
      pfam15288
      Location:12411276
      zf-CCHC_6; Zinc knuckle
    12. XM_047442394.1XP_047298350.1  transcription initiation factor TFIID subunit 1 isoform X4

    13. XM_047442400.1XP_047298356.1  transcription initiation factor TFIID subunit 1 isoform X10

    14. XM_047442404.1XP_047298360.1  transcription initiation factor TFIID subunit 1 isoform X14

      Related
      ENSP00000507781.1, ENST00000683202.1
    15. XM_024452430.2XP_024308198.2  transcription initiation factor TFIID subunit 1 isoform X16

    16. XM_047442406.1XP_047298362.1  transcription initiation factor TFIID subunit 1 isoform X17

    17. XM_005262300.3XP_005262357.2  transcription initiation factor TFIID subunit 1 isoform X18

      Related
      ENSP00000506729.1, ENST00000683715.1
    18. XM_047442405.1XP_047298361.1  transcription initiation factor TFIID subunit 1 isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      69800459..69963776
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327634.1XP_054183609.1  transcription initiation factor TFIID subunit 1 isoform X7

    2. XM_054327638.1XP_054183613.1  transcription initiation factor TFIID subunit 1 isoform X11

    3. XM_054327635.1XP_054183610.1  transcription initiation factor TFIID subunit 1 isoform X8

    4. XM_054327639.1XP_054183614.1  transcription initiation factor TFIID subunit 1 isoform X12

    5. XM_054327640.1XP_054183615.1  transcription initiation factor TFIID subunit 1 isoform X13

    6. XM_054327628.1XP_054183603.1  transcription initiation factor TFIID subunit 1 isoform X1

      UniProtKB/TrEMBL
      A0A804HIC2
    7. XM_054327632.1XP_054183607.1  transcription initiation factor TFIID subunit 1 isoform X5

    8. XM_054327629.1XP_054183604.1  transcription initiation factor TFIID subunit 1 isoform X2

    9. XM_054327633.1XP_054183608.1  transcription initiation factor TFIID subunit 1 isoform X6

    10. XM_054327630.1XP_054183605.1  transcription initiation factor TFIID subunit 1 isoform X3

    11. XM_054327636.1XP_054183611.1  transcription initiation factor TFIID subunit 1 isoform X9

    12. XM_054327631.1XP_054183606.1  transcription initiation factor TFIID subunit 1 isoform X4

    13. XM_054327637.1XP_054183612.1  transcription initiation factor TFIID subunit 1 isoform X10

    14. XM_054327641.1XP_054183616.1  transcription initiation factor TFIID subunit 1 isoform X14

    15. XM_054327643.1XP_054183618.1  transcription initiation factor TFIID subunit 1 isoform X16

    16. XM_054327644.1XP_054183619.1  transcription initiation factor TFIID subunit 1 isoform X17

    17. XM_054327645.1XP_054183620.1  transcription initiation factor TFIID subunit 1 isoform X18

    18. XM_054327642.1XP_054183617.1  transcription initiation factor TFIID subunit 1 isoform X15