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TAF1 Gene

protein-coding   GIFtS: 72
GCID: GC0XP070586

TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated...

(Previous names: TATA box binding protein (TBP)-associated factor, RNA polymerase...)
(Previous symbols: TAF2A, BA2R, CCG1, CCGS, DYT3)
  See TAF1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated
Factor, 250kDa1 2
     DYT3/TAF12
BA2R1 2 3 5     KAT42
CCG11 2 3 5     N-TAF12
TAF2A1 2 3 5     NSCL22
CCGS1 2 3     OF2
DYT31 2 5     P2502
Cell Cycle Gene 1 Protein2 3     XDP2
TAF(II)2502 3     Cell Cycle, G1 Phase Defect2
TAFII-2502 3     Complementation Of Cell Cycle Block, G1-To-S2
TAFII2502 3     Transcription Factor TFIID P250 Polypeptide2
TBP-Associated Factor 250 KDa2 3     Transcription Initiation Factor TFIID Subunit 12
EC 2.7.11.13 8     p2503
Dystonia 3 (With Parkinsonism)1     Transcription Initiation Factor TFIID 250 KDa Subunit3
TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, A,
250kD1
     EC 2.7.118

External Ids:    HGNC: 115351   Entrez Gene: 68722   Ensembl: ENSG000001471337   OMIM: 3136505   UniProtKB: P216753   

Export aliases for TAF1 gene to outside databases

Previous GC identifers: GC0XP066759 GC0XP068063 GC0XP068819 GC0XP069452 GC0XP070369 GC0XP070502 GC0XP064401


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TAF1 Gene:
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)

GeneCards Summary for TAF1 Gene:
TAF1 (TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa) is a protein-coding gene. Diseases associated with TAF1 include x-linked dystonia-parkinsonism, and dystonia 3, torsion, x-linked. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is TAF1L.

UniProtKB/Swiss-Prot: TAF1_HUMAN, P21675
Function: Largest component and core scaffold of the TFIID basal transcription factor complex. Contains novel N-
and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription
factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1
and GTF2F1 on Ser residues. Possesses DNA-binding activity. Essential for progression of the G1 phase of the cell
cycle

Gene Wiki entry for TAF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TAF1 gene promoter:
         TBP   TFIID   MyoD   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): TAF1 promoter sequence
   Search Chromatin IP Primers for TAF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TAF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq13.1   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq13.1

TAF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TAF1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP070586:  view genomic region     (about GC identifiers)

Start:
70,586,114 bp from pter      End:
70,752,224 bp from pter
Size:
166,111 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TAF1_HUMAN, P21675 (See protein sequence)
Recommended Name: Transcription initiation factor TFIID subunit 1  
Size: 1872 amino acids; 212677 Da
Cofactor: Magnesium
Subunit: TAF1 is the largest component of transcription factor TFIID that is composed of TBP and a variety of
TBP-associated factors. TAF1, when part of the TFIID complex, interacts with C-terminus of TP53. Component of
some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as
well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF,
PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. RB1
interacts with the N-terminal domain of TAF1. Interacts with ASF1A and ASF1B. Interacts with SV40 Large T
antigen. Interacts (via bromo domains) with acetylated lysine residues on the N-terminus of histone H1.4, H2A,
H2B, H3 and H4 (in vitro)
Miscellaneous: Isoforms including the downstream (d) exons are preferencially expressed in brain, and may play a
role in the regulation of genes involved in dopamine processing and transport
4 PDB 3D structures from and Proteopedia for TAF1:
1EQF (3D)        3AAD (3D)        3UV4 (3D)        3UV5 (3D)    
Secondary accessions: A5CVC8 A5CVC9 A5CVD0 A5CVD1 B1Q2X3 Q59FZ3 Q6IUZ1 Q70Q86 Q70Q87 Q70T00
Q70T01 Q70T02 Q70T03
Alternative splicing: 12 isoforms:  P21675-1   P21675-2   P21675-3   P21675-4   P21675-5   P21675-6   P21675-7   P21675-8   
P21675-9   P21675-10   P21675-11   P21675-12   (Only detected in brain, highest expression in the caudate nucleus)

Explore the universe of human proteins at neXtProt for TAF1: NX_P21675

Explore proteomics data for TAF1 at MOPED

Post-translational modifications: 

  • Phosphorylated by casein kinase II in vitro1
  • Ubiquitination2 at Lys237, Lys249
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TAF1 (P21675) (see all 22)
     HTSPFLG  GHMRTNK  PMDLETI  KDPGAPD 


    See TAF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001273003.1  NP_004597.2  NP_620278.1  

    ENSEMBL proteins: 
     ENSP00000362895   ENSP00000276072   ENSP00000424526   ENSP00000421611   ENSP00000406517  
     ENSP00000362880   ENSP00000389000   ENSP00000406549  
    Reactome Protein details: P21675

    TAF1 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TAF1

     
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    antibodies-online proteins for TAF1 (2 products) 

     
    antibodies-online peptides for TAF1

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    EMD Millipore Mono- and Polyclonal Antibodies for the study of TAF1
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    antibodies-online antibodies for TAF1 (45 products) 

    TAF1 Assay Products:

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    antibodies-online kits for TAF1 (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    KAT: Chromatin-modifying enzymes / K-acetyltransferases

    IUPHAR Guide to PHARMACOLOGY protein family classification: TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
    TAF1 family

    5 InterPro protein domains:
     IPR009067 TAF_II_230-bd
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain
     IPR011177 TAF1_animal
     IPR022591 TFIID_sub1_DUF3591

    Graphical View of Domain Structure for InterPro Entry P21675

    ProtoNet protein and cluster: P21675

    1 Blocks protein domain: IPB001487 Bromodomain signature

    UniProtKB/Swiss-Prot: TAF1_HUMAN, P21675
    Similarity: Belongs to the TAF1 family
    Similarity: Contains 2 bromo domains
    Similarity: Contains 1 HMG box DNA-binding domain
    Similarity: Contains 2 protein kinase domains


    Find genes that share domains with TAF1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TAF1_HUMAN, P21675
    Function: Largest component and core scaffold of the TFIID basal transcription factor complex. Contains novel N-
    and C-terminal Ser/Thr kinase domains which can autophosphorylate or transphosphorylate other transcription
    factors. Phosphorylates TP53 on 'Thr-55' which leads to MDM2-mediated degradation of TP53. Phosphorylates GTF2A1
    and GTF2F1 on Ser residues. Possesses DNA-binding activity. Essential for progression of the G1 phase of the cell
    cycle
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein
    Enzyme regulation: Autophosphorylates on Ser residues. Inhibited by retinoblastoma tumor suppressor protein, RB1

         Enzyme Numbers (IUBMB): EC 2.7.11.11 2 EC 2.7.112

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002039p53 binding IPI15053879
    GO:0003677DNA binding ----
    GO:0003713transcription coactivator activity IDA17996705
    GO:0004402histone acetyltransferase activity IDA8980232
    GO:0004674protein serine/threonine kinase activity IDA15053879
         
    Find genes that share ontologies with TAF1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for TAF1:
     Increased cell death HMECs cel  Stronger migration  Synthetic lethal with Ras 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for TAF1

    miRNA
    Products:
        
    miRTarBase miRNAs that target TAF1:
    hsa-mir-21-5p (MIRT030916), hsa-mir-335-5p (MIRT018059), hsa-mir-7-5p (MIRT025847)

    Block miRNA regulation of human, mouse, rat TAF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TAF1 (see all 34):
    hsa-miR-3685 hsa-miR-520f hsa-miR-25 hsa-miR-4325 hsa-miR-3116 hsa-miR-556-3p hsa-miR-3148 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidTAF1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): TAF1 (NM_138923)
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TAF1_HUMAN, P21675: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005669transcription factor TFIID complex IDA14580349
    GO:0005730NOT nucleolus IDA--
    GO:0071339MLL1 complex IDA15960975

    Find genes that share ontologies with TAF1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TAF1 About   (see all 11)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Assembly of RNA Polymerase-II Initiation Complex
    Assembly of RNA Polymerase-II Initiation Complex0.91
    Basal transcription factors0.50
    Transcription of mRNA0.91
    Crosstalk Between CARM1 and ESRs0.39
    Protein Acetylation and Deacetylation0.51
    2Formation of RNA Pol II elongation complex
    RNA Polymerase II Pre-transcription Events0.73
    RNA Polymerase II HIV Promoter Escape0.67
    Transcription of the HIV genome0.71
    RNA Polymerase II Transcription Pre-Initiation And Promoter Opening0.67
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    RNA Polymerase II Transcription Initiation0.67
    RNA Polymerase II Promoter Escape0.67
    RNA Polymerase II Transcription0.60
    3HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    4Apoptotic Pathways in Synovial Fibroblasts
    Nuclear Receptor Activation by Vitamin-A0.57
    5GPCR Pathway
    Estrogen Pathway0.55


    Find genes that share SuperPaths with TAF1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TAF1 (see all 7)
        Nuclear Receptor Activation by Vitamin-A
    Protein Acetylation and Deacetylation
    Assembly of RNA Polymerase-II Initiation Complex
    Glucocorticoid Receptor Signaling
    Estrogen Pathway

    1 Cell Signaling Technology (CST) Pathway for TAF1
        Chromatin Regulation / Acetylation

    1 GeneGo (Thomson Reuters) Pathway for TAF1
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for TAF1
        Regulation of retinoblastoma protein

    Selected Reactome Pathways for TAF1 (see all 8)
        RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
    RNA Polymerase II Transcription Initiation And Promoter Clearance
    RNA Polymerase II Promoter Escape
    RNA Polymerase II Transcription Initiation
    Transcription of the HIV genome


    1 Kegg Pathway  (Kegg details for TAF1):
        Basal transcription factors

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TAF1
    Interactions:

        GeneGlobe Interaction Network for TAF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TAF1 (P216751, 2, 3 ENSP000002760724) via UniProtKB, MINT, STRING, and/or I2D (see all 251)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=3 STRING: ENSP00000352980
    HIST1H4FP628053, ENSP000003669744I2D: score=3 STRING: ENSP00000366974
    HIST1H4HP628053, ENSP000002893524I2D: score=3 STRING: ENSP00000289352
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000117regulation of transcription involved in G2/M transition of mitotic cell cycle ISS--
    GO:0006352DNA-templated transcription, initiation ISS--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006367transcription initiation from RNA polymerase II promoter TAS--

    Find genes that share ontologies with TAF1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TAF1

    1 HMDB Compound for TAF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    6 Novoseek inferred chemical compound relationships for TAF1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysine 31.1 6 11686293 (1), 17996705 (1)
    proline 8.77 2 2038334 (1), 7892648 (1)
    polyacrylamide 3.61 1 9188471 (1)
    alanine 0 1 15053879 (1)
    serine 0 4 8625415 (2), 9660973 (1), 11278496 (1)
    dopamine 0 2 17273961 (1)



    Find genes that share compounds with TAF1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TAF1 gene (3 alternative transcripts): 
    NM_001286074.1  NM_004606.4  NM_138923.3  

    Unigene Cluster for TAF1:

    TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
    Hs.158560  [show with all ESTs]
    Unigene Representative Sequence: NM_004606
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000373790(uc004dzu.4) ENST00000276072(uc010nld.1) ENST00000483365
    ENST00000472567 ENST00000478305 ENST00000474917 ENST00000483985 ENST00000463163
    ENST00000437147(uc004dzx.2 uc004dzw.1) ENST00000373775(uc010nle.1 uc010nlf.1 uc004dzy.2)
    ENST00000462588 ENST00000485087 ENST00000468167 ENST00000461764 ENST00000492404
    ENST00000482544 ENST00000461157 ENST00000467309(uc010nlg.1)
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    hsa-miR-3685 hsa-miR-520f hsa-miR-25 hsa-miR-4325 hsa-miR-3116 hsa-miR-556-3p hsa-miR-3148 hsa-miR-92b
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    Additional mRNA sequence: 

    AB209316.1 AB300418.1 AJ549245.1 AJ549246.2 AJ549247.1 AJ549248.3 AJ549249.2 AJ549250.3 
    AJ555148.2 AJ555149.2 AK310201.1 AM711892.1 AM711893.1 AM711894.1 AM711895.1 D90359.1 
    M73444.1 X07024.1 

    14 DOTS entries:

    DT.100772930  DT.97839287  DT.208635  DT.100813411  DT.101981609  DT.101981607  DT.100813410  DT.101981606 
    DT.75107913  DT.91806256  DT.95269197  DT.91650549  DT.91847487  DT.121285810 

    Selected AceView cDNA sequences (see all 109):

    AW074202 AI500610 AJ549250 AJ549249 BX437484 AW613259 BX404867 BQ962632 
    D90359 AJ549248 AJ549246 BF868858 AJ549245 BM463339 BU183982 BG289819 
    BX279670 R66536 AI275999 AJ549247 BQ027170 AI191588 BQ436343 NM_138923 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TAF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGTTTATA
    TAF1 Expression
    About this image


    TAF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    TAF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TAF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158560
        Custom PCR Arrays for TAF1
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    OriGene qSTAR qPCR primer pairs in human, mouse for TAF1
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TAF1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Taf11 , 5 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated more1, 5 90.78(n)1
    95.61(a)1
      X (44.29 cM)5
    2706271  NM_001081008.11  NP_001074477.11 
     1015327345 
    chicken
    (Gallus gallus)
    Aves TAF11 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated more 78.91(n)
    89.28(a)
      422204  XM_420198.4  XP_420198.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    84(a)
    1 → many
    GL343599.1(26676-57586)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.148742 Xenopus laevis transcribed sequence with strong similarity more 78.79(n)    BJ060709.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufy39f072 wufy39f07 77.72(n)   386861  57062714 
    fruit fly
    (Drosophila melanogaster)
    Insecta Taf11 , 3 transcription initiation from Pol II
    promoter more3
    TBP-associated factor 11
    49(a)3
    57.67(n)1
    56.51(a)1
      3 84A13
    408131  NM_206437.21  NP_996159.11 
    worm
    (Caenorhabditis elegans)
    Secernentea taf-11 taf-1 50.9(n)
    43.66(a)
      173257  NM_061025.4  NP_493426.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes TAF1(YGR274C)4 TFIID subunit (145 kDa), involved in RNA polymerase more   --   7(1043095-1039895) 853191  NP_011790.1 


    ENSEMBL Gene Tree for TAF1 (if available)
    TreeFam Gene Tree for TAF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TAF1 gene
    TAF1L2  
    2 SIMAP similar genes for TAF1 using alignment to 6 protein entries:     TAF1_HUMAN (see all proteins):
    TAF1L    BRDT

    Find genes that share paralogs with TAF1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TAF1 (see all 1266)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0419324
    A metastatic melanoma sample4--see VAR_0419322 E K mis40--------
    VAR_0419314
    A colorectal adenocarcinoma sample4--see VAR_0419312 G D mis40--------
    VAR_0419334
    A lung bronchoalveolar carcinoma sample4--see VAR_0419332 M I mis40--------
    rs283821491,2
    C,F--70587114(+) AGTAT-/TATACTTT 2 -- cds11Minor allele frequency- TAT:0.07NS 176
    rs1900637391,2
    --70592215(+) TGACTA/CCTTTA 2 -- us2k10--------
    rs1472009761,2
    --70592310(+) ACCTGG/TGCCGG 2 -- us2k10--------
    rs1929298351,2
    --70592336(+) CCTGTA/CATTTC 2 -- us2k10--------
    rs1855672441,2
    --70592683(+) CGGGCA/GCCTGT 2 -- us2k10--------
    rs1904858131,2
    --70592720(+) CAGGAA/GAATGG 2 -- us2k10--------
    rs1807966851,2
    --70592774(+) CACTGC/TACTCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TAF1 (70586114 - 70752224 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TAF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv33082CNV Loss17666407
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): TAF1
    Locus Specific Mutation Databases (LSDB): TAF1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 313650   
    OMIM disorders: 314250  
    UniProtKB/Swiss-Prot: TAF1_HUMAN, P21675
  • Dystonia 3, torsion, X-linked (DYT3) [MIM:314250]: A X-linked dystonia-parkinsonism disorder. Dystonia is
    defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT3 is
    characterized by severe progressive torsion dystonia followed by parkinsonism. It has a well-defined pathology of
    extensive neuronal loss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to
    resemble that in Huntington disease. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 4 diseases for TAF1:    
    About MalaCards
    x-linked dystonia-parkinsonism    dystonia 3, torsion, x-linked    spinocerebellar ataxia type 17    dystonia

    2 diseases from the University of Copenhagen DISEASES database for TAF1:
    Disseminated intravascular coagulation     Familial dystonia

    Find genes that share disorders with TAF1           About GenesLikeMe

    3 Novoseek inferred disease relationships for TAF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 41 6 9858607 (1), 9242374 (1), 11278496 (1)
    tumors 0 4 9858607 (1), 9242374 (1), 11278496 (1)
    cancer 0 2 20181722 (1), 11437234 (1)

    GeneTests: TAF1
    GeneReviews: TAF1
    Genetic Association Database (GAD): TAF1
    Human Genome Epidemiology (HuGE) Navigator: TAF1 (15 documents)

    Export disorders for TAF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TAF1 gene, integrated from 10 sources (see all 206):
    (articles sorted by number of sources associating them with TAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. (PubMed id 17952504)1, 2, 3, 9 Herzfeld T....MA1ller U. (Mamm. Genome 2007)
    2. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. (PubMed id 12928496)1, 2, 3, 9 Nolte D.... Muller U. (Proc. Natl. Acad. Sci. U.S.A. 2003)
    3. Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression. (PubMed id 15053879)1, 2, 9 Li H.-H.... Liu X. (Mol. Cell 2004)
    4. Rb inhibits the intrinsic kinase activity of TATA-binding protein- associated factor TAFII250. (PubMed id 9858607)1, 2, 9 Siegert J.L. and Robbins P.D. (Mol. Cell. Biol. 1999)
    5. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. (PubMed id 17273961)1, 2, 9 Makino S.... Tamiya G. (Am. J. Hum. Genet. 2007)
    6. Taf(II) 250 phosphorylates human transcription factor IIA on serine residues important for TBP binding and transcription activity. (PubMed id 11278496)1, 2, 9 Solow S.... Lieberman P.M. (J. Biol. Chem. 2001)
    7. TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74. (PubMed id 8625415)1, 2, 9 Dikstein R.... Tjian R. (Cell 1996)
    8. The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein. (PubMed id 2038334)1, 2, 9 Sekiguchi T.... Nishimoto T. (Mol. Cell. Biol. 1991)
    9. Cloning and expression of human TAFII250: a TBP-associated factor implicated in cell-cycle regulation. (PubMed id 7680771)1, 2, 9 Ruppert S.... Tjian R. (Nature 1993)
    10. Functional analysis of the human TAFII250 N-terminal kinase domain. (PubMed id 9660973)1, 2, 9 O'Brien T. and Tjian R. (Mol. Cell 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6872 HGNC: 11535 AceView: TAF1 Ensembl:ENSG00000147133 euGenes: HUgn6872
    ECgene: TAF1 Kegg: 6872 H-InvDB: TAF1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for TAF1 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/taf1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TAF1 gene:
    Search GeneIP for patents involving TAF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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