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

    Gene ID: 6872, updated on 13-May-2018
    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; 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; 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
    See TAF1 in Genome Data Viewer
    Location:
    Xq13.1
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (71366220..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 containing 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 germ cell nuclear acidic peptidase

    • 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 Jun 15 11:32:44 2016

    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
     
    contributes_to H3K27me3 modified histone binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II core promoter sequence-specific DNA binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    RNA polymerase II sequence-specific DNA binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
    Inferred from Sequence Alignment
    more info
     
    TBP-class protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    TBP-class protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    NOT acetyl-CoA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    histone acetyltransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    NOT histone acetyltransferase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    kinase 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 heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein serine/threonine kinase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    CONTRIBUTES_TO transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    ubiquitin conjugating enzyme activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 ATP IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to DNA damage stimulus IC
    Inferred by Curator
    more info
    PubMed 
    cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to UV IDA
    Inferred from Direct Assay
    more info
    PubMed 
    histone acetylation IEA
    Inferred from Electronic Annotation
    more info
     
    midbrain development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of DNA binding transcription factor activity IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein autoubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 androgen receptor activity 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 protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase I IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II 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 
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein stabilization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cell cycle G1/S phase transition TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of signal transduction by p53 class mediator TAS
    Traceable Author Statement
    more info
     
    regulation of transcription initiation from RNA polymerase II promoter NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of transcription, DNA-templated TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
     
    transcription elongation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    transcription factor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription initiation from RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
     
    ubiquitin-dependent protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    MLL1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    colocalizes_with nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor TFIID complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transcription factor TFIID complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transcription factor TFIID complex TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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_001273003.1
    NP_004597.2
    NP_620278.1
    XP_005262352.1
    XP_005262353.1
    XP_005262354.1
    XP_005262357.1
    XP_024308197.1
    XP_024308198.1

    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 RefSeqGene

      Range
      4976..104742
      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 identical proteins and their annotated locations for 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
      ENSP00000406549.1, ENST00000423759.5
      Conserved Domains (5) 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:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5861048
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:17421833
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam15288
      Location:12821317
      zf-CCHC_6; Zinc knuckle
    2. NM_004606.4NP_004597.2  transcription initiation factor TFIID subunit 1 isoform 1

      See identical proteins and their annotated locations for 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
      Related
      ENSP00000276072.3, OTTHUMP00000024335, ENST00000276072.7, OTTHUMT00000058996
      Conserved Domains (5) 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:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5861048
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:17401831
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam15288
      Location:12821317
      zf-CCHC_6; Zinc knuckle
    3. NM_138923.3NP_620278.1  transcription initiation factor TFIID subunit 1 isoform 2

      See identical proteins and their annotated locations for 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
      ENSP00000362895.4, OTTHUMP00000024334, ENST00000373790.8, OTTHUMT00000058995
      Conserved Domains (5) 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:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5651027
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:17191810
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      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
      ENST00000497222.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

      Range
      71366220..71530525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262297.4XP_005262354.1  transcription initiation factor TFIID subunit 1 isoform X3

      See identical proteins and their annotated locations for XP_005262354.1

      UniProtKB/Swiss-Prot
      P21675
      Conserved Domains (5) 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:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5651027
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:17531844
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam15288
      Location:12611296
      zf-CCHC_6; Zinc knuckle
    2. XM_005262295.1XP_005262352.1  transcription initiation factor TFIID subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_005262352.1

      Conserved Domains (5) 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:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5861048
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:17741865
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam15288
      Location:12821317
      zf-CCHC_6; Zinc knuckle
    3. XM_005262296.1XP_005262353.1  transcription initiation factor TFIID subunit 1 isoform X2

      Conserved Domains (5) 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:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5861048
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:17731864
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam15288
      Location:12811316
      zf-CCHC_6; Zinc knuckle
    4. XM_024452430.1XP_024308198.1  transcription initiation factor TFIID subunit 1 isoform X5

      Conserved Domains (5) summary
      cd05511
      Location:14061517
      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:2986
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:5861049
      DUF3591; Protein of unknown function (DUF3591)
      pfam15288
      Location:12821317
      zf-CCHC_6; Zinc knuckle
      cl02556
      Location:15281604
      Bromodomain; Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    5. XM_005262300.2XP_005262357.1  transcription initiation factor TFIID subunit 1 isoform X6

      Conserved Domains (2) summary
      pfam09247
      Location:3386
      TBP-binding; TATA box-binding protein binding
      pfam12157
      Location:586999
      DUF3591; Protein of unknown function (DUF3591)
    6. XM_024452429.1XP_024308197.1  transcription initiation factor TFIID subunit 1 isoform X4

      Conserved Domains (5) 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 ...
      pfam04147
      Location:15831688
      Nop14; Nop14-like family
      pfam12157
      Location:459922
      DUF3591; Protein of unknown function (DUF3591)
      pfam14797
      Location:16471738
      SEEEED; Serine-rich region of AP3B1, clathrin-adaptor complex
      pfam15288
      Location:11551190
      zf-CCHC_6; Zinc knuckle

    RNA

    1. XR_938407.1 RNA Sequence

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