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

TAF1 Gene

protein-coding   GIFtS: 68
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)
 Explore 21 diseases affiliated with
TAF1 via our new
 Human Malady Compendium 
Biological research products
for TAF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor,
250kDa1 2
     TBP-Associated Factor 250 KDa2 3
BA2R1 2 3 5     EC 2.7.11.13 8
CCG11 2 3 5     Dystonia 3 (With Parkinsonism)1
TAF2A1 2 3 5     TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, A, 250kD1
CCGS1 2 3     N-TAF12
TAFII2501 2 3     OF2
DYT31 2 5     P2502
DYT3/TAF11 2     XDP2
KAT41 2     Cell Cycle, G1 Phase Defect2
NSCL21 2     Complementation Of Cell Cycle Block, G1-To-S2
Cell Cycle Gene 1 Protein2 3     Transcription Factor TFIID P250 Polypeptide2
Transcription Initiation Factor TFIID 250 KDa Subunit2 3     Transcription Initiation Factor TFIID Subunit 12
TAF(II)2502 3     P2502
TAFII-2502 3     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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011669.17  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 MLL, 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

Post-translational modifications:

  • Phosphorylated by casein kinase II in vitro1
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Uscn 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 IDA8625415
    GO:0005730NOT nucleolus IDA--
    GO:0071339MLL1 complex IDA15960975


    TAF1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TAF1


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

    TAF1 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Inhib. RNA
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    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


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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of RNA Pol II elongation complex
    8/12 pathways (see all 12)
    RNA Polymerase II Pre-transcription Events0.72
    Addition of the third nucleotide on the nascent transcript0.40
    Transcription of the HIV genome0.70
    RNA Polymerase II Promoter Escape0.40
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.40
    RNA Polymerase II Transcription Initiation0.40
    HIV-1 Transcription Initiation0.40
    Addition of the fourth nucleotide on the Nascent Transcript: Second Transition0.40
    2Assembly of RNA Polymerase-II Initiation Complex
    Assembly of RNA Polymerase-II Initiation Complex1.00
    Basal transcription factors0.49
    Transcription of mRNA0.91
    Crosstalk Between CARM1 and ESRs0.32
    Protein Acetylation and Deacetylation0.51
    3HIV Infection
    HIV Infection1.00
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    4Late Phase of HIV Life Cycle
    Late Phase of HIV Life Cycle1.00
    HIV Life Cycle0.90
    5Transcription
    Transcription1.00
    RNA Polymerase II Transcription0.69

    Pathway sources
    See GeneCards unified pathways
    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 GeneGo (Thomson Reuters) Pathway for TAF1
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for TAF1 
        Regulation of retinoblastoma protein

    5/19        Reactome Pathways for TAF1 (see all 19)
        Late Phase of HIV Life Cycle
    RNA Polymerase II Transcription
    RNA Polymerase II Transcription Initiation And Promoter Clearance
    Disease
    HIV Infection


    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)

    5/138 Interacting proteins for TAF1 (P216751, 2, 3 ENSP000002760724) via UniProtKB, MINT, STRING, and/or I2D (see all 138)
    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): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000080G1 phase of mitotic cell cycle IGI9660973
    GO:0000117regulation of transcription involved in G2/M-phase 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, 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
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    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 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 235 Homo sapiens; Mar 10 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,
    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, 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)

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    Additional cDNA 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):

    NM_138923 BE466241 AI500610 AI275999 BQ027170 BQ950158 AJ549247 BQ436343 
    R66536 M73444 AI970464 BM463339 AI246039 D90359 NM_004606 BQ962632 
    BX437484 AJ549248 AW074202 AJ549250 AJ549246 AW613259 BX404867 BX279670 

    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
    CGAP TAG: TGTGTTTATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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 eukaryotes.

    Orthologs for TAF1 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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 --
    --
    87(a)
    possible ortholog
    GL343599.1(27628-60414)
    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 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons HAF016
    TAF1B6
    transcription initiation factor TFIID subunit 1-B
    18(a)
    17(a)
    many ↔ many
    many ↔ many
    1(11846247-11856765)
    3(6567157-6575282)
    rice
    (Oryza sativa)
    Liliopsida --
    transcription initiation factor TFIID subunit 1, p...
    19(a)
    1 → many
    6(26359284-26373493)


    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, UniProtKB, 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

    10/992 NCBI SNPs in TAF1 are shown (see all 992    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1900637391,2
    --70584122(+) TGACTA/CCTTTA 2 -- us2k10--------
    rs1472009761,2
    --70584217(+) ACCTGG/TGCCGG 2 -- us2k10--------
    rs1929298351,2
    --70584243(+) CCTGTA/CATTTC 2 -- us2k10--------
    rs1855672441,2
    --70584590(+) CGGGCA/GCCTGT 2 -- us2k10--------
    rs1904858131,2
    --70584627(+) CAGGAA/GAATGG 2 -- us2k10--------
    rs1807966851,2
    --70584681(+) CACTGC/TACTCC 2 -- us2k10--------
    rs1854708391,2
    --70584685(+) GCACTC/TCACCC 2 -- us2k10--------
    rs1886634781,2
    --70584771(+) ACAACC/TTGCCT 2 -- us2k10--------
    rs70538471,2
    C,F,H,--70584952(+) TATTAT/CCATAA 2 -- us2k19Minor allele frequency- C:0.03NS EA NA 1092
    rs1810840311,2
    --70584974(+) AGCAAA/GGTGAA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TAF1 (70586114 - 70752224 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TAF1
         1 CNV: 7797
    Human Gene Mutation Database (HGMD): TAF1

    Locus Specific Mutation Databases (LSDB): TAF1

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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.)
    About This Section

    TAF1 for disorders           About GeneDecksing

    OMIM gene information: 313650   
    OMIM disorders: 314250  
    UniProtKB/Swiss-Prot: TAF1_HUMAN, P21675
  • Defects in TAF1 are the cause of dystonia type 3 (DYT3) [MIM:314250]; also called X-linked
  • dystonia-parkinsonism (XDP). DYT3 is 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. Its prevalence is high in the Philippines. DYT3 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

    20/21 diseases for TAF1 (see all 21):    About MalaCards
    x-linked dystonia-parkinsonism    disseminated intravascular coagulation    spinocerebellar ataxia type 17    torsion dystonia
    spinocerebellar ataxia    hyperprothrombinemia    familial dystonia    pulmonary embolism
    coronary heart disease    ankylosis    myocardial infarction    gliosis
    ataxia    retinoblastoma    huntington's disease    thrombosis
    breast cancer    cerebritis    immunodeficiency    neuronitis

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

    3 Novoseek 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
    X-Linked Dystonia-Parkinsonism Syndrome

    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 194):
    (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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