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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TAF1 Gene

protein-coding   GIFtS: 70
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)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated
Factor, 250kDa1 2
     TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, A,
250kD1
BA2R1 2 3 5     DYT3/TAF12
CCG11 2 3 5     KAT42
TAF2A1 2 3 5     N-TAF12
CCGS1 2 3     NSCL22
DYT31 2 5     OF2
Cell Cycle Gene 1 Protein2 3     P2502
Transcription Initiation Factor TFIID 250 KDa Subunit2 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     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. This gene is part
of a complex transcriptional unit (TAF1/DYT3), wherein some products share exons with TAF1 as well as additional
exons downstream.(provided by RefSeq, Aug 2009)

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, and among its related super-pathways are Assembly of RNA Polymerase-II Initiation Complex and RNA Polymerase II Pre-transcription Events. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011669.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TAF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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)
Subcellular location: Nucleus
4 PDB 3D structures from and Proteopedia for TAF1:
1EQF (3D)        3AAD (3D)        3UV4 (3D)        3UV5 (3D)    
Secondary accessions: A5CVD0 Q59FZ3 Q6IUZ1 Q70Q86 Q70Q87 Q70T00 Q70T01 Q70T02 Q70T03
Alternative splicing: 4 isoforms:  P21675-1   P21675-2   P21675-3   P21675-4   (Contains a phosphoserine at position 1700)

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

Explore proteomics data for TAF1 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by casein kinase II in vitro
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21675

  • 4/22 DME Specific Peptides for TAF1 (P21675) (see all 22)
     HTSPFLG  GHMRTNK  PMDLETI  KDPGAPD 

    TAF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TAF1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004597.2  NP_620278.1  

    ENSEMBL proteins: 
     ENSP00000362895   ENSP00000276072   ENSP00000424526   ENSP00000421611   ENSP00000406517  
     ENSP00000362880   ENSP00000389000   ENSP00000406549  
    Reactome Protein details: P21675
    Human Recombinant Protein Products for TAF1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
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    Novus Biologicals TAF1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TAF1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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

    TAF1 for ontologies           About GeneDecksing



    TAF1 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for TAF1 

    Assay Products for TAF1: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TAF1 
    Cloud-Clone Corp. CLIAs for TAF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    TAF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/12 molecular function terms (GO ID links to tree view) (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
         
    TAF1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TAF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TAF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TAF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TAF1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TAF1
    8/34 QIAGEN miScript miRNA 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
    Products:
        
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of TAF1

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): TAF1 (NM_138923)
    Browse Sino Biological Human cDNA Clones
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    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TAF1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TAF1 About   (see all 12)                                                                                              See pathways by source

    SuperPathContained pathways About
    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 Events0.72
    RNA Polymerase II HIV Promoter Escape0.67
    Transcription of the HIV genome0.70
    RNA Polymerase II Transcription Pre-Initiation And Promoter Opening0.67
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    HIV Transcription Initiation0.67
    RNA Polymerase II Promoter Escape0.67
    RNA Polymerase II Transcription Initiation0.67
    3HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    4Transcription
    Transcription0.69
    RNA Polymerase II Transcription0.69
    5Apoptotic Pathways in Synovial Fibroblasts
    Nuclear Receptor Activation by Vitamin-A0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TAF1
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    5/7 Downloadable PowerPoint Slides of QIAGEN 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

    5/15        Reactome Pathways for TAF1 (see all 15)
        RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
    Late Phase of HIV Life Cycle
    RNA Polymerase II Transcription
    Transcription
    RNA Polymerase II Transcription Initiation And Promoter Clearance


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


    TAF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TAF1

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

    5/139 Interacting proteins for TAF1 (P216751, 2, 3 ENSP000002760724) via UniProtKB, MINT, STRING, and/or I2D (see all 139)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=3 STRING: ENSP00000352980
    HIST1H4BP628053I2D: score=3 
    HIST1H4CP628053I2D: score=3 
    HIST1H4DP628053I2D: score=3 
    HIST1H4EP628053I2D: score=3 
    About this table

    Gene Ontology (GO): 5/19 biological process terms (GO ID links to tree view) (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000080G1 phase of mitotic cell cycle IGI9660973
    GO:0000117regulation of transcription involved in G2/M transition of mitotic cell cycle ISS--
    GO:0006352DNA-dependent transcription, initiation ISS--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006366transcription from RNA polymerase II promoter TAS--

    TAF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TAF1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about TAF1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TAF1 gene (2 alternative transcripts): 
    NM_004606.3  NM_138923.2  

    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
    18/21 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/34 QIAGEN miScript miRNA 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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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TAF1

    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 

    24/109 AceView cDNA sequences (see all 109):

    BQ950158 BF868858 NM_138923 AJ549247 BG289819 BX437484 AI191588 AI246039 
    M73444 AJ549245 BU183982 AJ549249 D90359 BE466241 BQ436343 AI500610 
    BX279670 AW074202 BX404867 AW613259 BQ962632 BM463339 R66536 AI970464 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See TAF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TAF1

    SOURCE GeneReport for Unigene cluster: Hs.158560
        SABiosciences Custom PCR Arrays for TAF1
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    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TAF1 gene from 8/16 species (see all 16)    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 90.87(n)1
    95.72(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 79.79(n)
    89.92(a)
      422204  XM_420198.3  XP_420198.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    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
    55.99(n)1
    53.29(a)1
      3 84A13
    408131  NM_206438.21  NP_996160.11 
    worm
    (Caenorhabditis elegans)
    Secernentea taf-11 Protein TAF-1 50.63(n)
    42.61(a)
      173257  NM_061025.3  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)
    About This Section
    Paralogs for TAF1 gene
    TAF1L2  
    4 SIMAP similar genes for TAF1 using alignment to 6 protein entries:     TAF1_HUMAN (see all proteins):
    DYT3    N-TAF1    TAF1L    BRDT

    TAF1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1266 SNPs in TAF1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TAF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 313650   
    OMIM disorders: 314250  
    UniProtKB/Swiss-Prot: TAF1_HUMAN, P21675
  • Dystonia 3 (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

  • 20 diseases for TAF1:    About MalaCards
    x-linked dystonia-parkinsonism    dystonia 3, torsion, x-linked    spinocerebellar ataxia type 17    torsion dystonia
    familial dystonia    ankylosis    pulmonary embolism    disseminated intravascular coagulation
    spinocerebellar ataxia    retinoblastoma    thrombosis    ataxia
    coronary heart disease    huntington's disease    endometriosis    myocardial infarction
    infertility    cerebritis    breast cancer    neuronitis

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

    TAF1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for TAF1 gene, integrated from 9 sources (see all 201):
    (articles sorted by number of sources associating them with TAF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2003)
    2. 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. (2004)
    3. 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. (1999)
    4. 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. (2007)
    5. 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. (2001)
    6. TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74. (PubMed id 8625415)1, 2, 9 Dikstein R.... Tjian R. (1996)
    7. 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. (1991)
    8. Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. (PubMed id 17952504)1, 3, 9 Herzfeld T....Muller U. (2007)
    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. (1993)
    10. Functional analysis of the human TAFII250 N-terminal kinase domain. (PubMed id 9660973)1, 2, 9 O'Brien T. and Tjian R. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6872 HGNC: 11535 AceView: TAF1 Ensembl:ENSG00000147133 euGenes: HUgn6872
    ECgene: TAF1 Kegg: 6872 H-InvDB: TAF1

    (According to HUGE)
    About This Section
      --

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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