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TAF1 Gene

protein-coding   GIFtS: 68

GC0XP070502
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
(Previous names: TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: TAF2A, BA2R, CCG1, CCGS)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
BA2R 2, 3, 5
CCG1 2, 3, 5
CCGS 2, 3
DYT3 2, 5
EC 2.7.11.1 3
KAT4 1, 2
N-TAF1 2
NSCL2 1, 2
OF 2
OTTHUMP00000024334 2
P250 2
TAF(II)250 3
TAF2A 2, 3, 5
TAFII-250 3
TAFII250 1, 2, 3
p250 3
Descriptions
Cell cycle gene 1 protein 3
TAF1 RNA polymerase II, TATA box binding protein
(TBP)-associated factor, 250kDa 2
TAF1 RNA polymerase II, TATA box binding protein-associated
factor, 250kDa 1
TATA box binding protein (TBP)-associated factor, RNA
polymerase II, A, 250kD 1
TBP-associated factor 1 2
TBP-associated factor 250 kDa 3
Transcription initiation factor TFIID 250 kDa subunit 3
cell cycle, G1 phase defect 2
complementation of cell cycle block, G1-to-S 2
transcription factor TFIID p250 polypeptide 2
External Ids
HGNC: 115351
Entrez Gene: 68722
UniProtKB: P216753
Ensembl: ENSG000001471337
Search outside databases for aliases for TAF1 gene

Previous GC identifers: GC0XP066759 GC0XP068063 GC0XP068819 GC0XP069452 GC0XP070369

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene 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. Two
transcripts encoding different isoforms have been identified for this gene. [provided by RefSeq]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the TAF1 gene  

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)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP070502:     (about GC identifiers)

Start:
70,502,839 bp from pter
End:
70,601,025 bp from pter
Size:
98,187 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011669.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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. RB1 interacts with the N-terminal domain of TAF1. Interacts with ASF1A and ASF1B.
Interacts with SV40 Large T antigen
Subcellular location: Nucleus
PDB structures from and Proteopedia :
1EQF (3D)    
Secondary accessions: A5CVD0 Q59FZ3 Q6IUZ1 Q70Q86 Q70Q87 Q70T00 Q70T01 Q70T02 Q70T03
Alternative splicing: 4 isoforms:  P21675-1   P21675-2   P21675-3   P21675-4   

Post-translational modifications:

  • Phosphorylated by casein kinase II in vitro1
  • View phosphorylation sites using PhosphoSite2


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


    ENSEMBL proteins: 
    ENSP00000362895 ENSP00000276072 ENSP00000379125 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich AQUA Peptides for TAF1  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KAT4 / TBP Associated Factor 1)
    Human Recombinant Proteins from Abnova (TAF1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus TAS7680771
    GO:0005654 nucleoplasm EXP1939271 2449431 8946909
    GO:0005669 transcription factor TFIID complex TAS7680771
    GO:0005730NOT nucleolus IDA18029348
    About this table

    Antibodies for TAF1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for TAF1
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KAT4 / TBP Associated Factor 1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (TAF1)
    Novus Biologicals Antibodies for TAF1

    Assays for TAF1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    4 InterPro domains/families:
     IPR009067 TAF_II_230_bd
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain
     IPR011177 TAF1_animal


       GeneDecks  TAF1 for the domains selected above  
    About GeneDecksing

    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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TAF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TAF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004606

                  Applied Biosystems Silencer® siRNAs for TAF1

                  Sigma-Aldrich siRNA and siRNA Panels for TAF1  
                         Sigma-Aldrich shRNA Panels and shRNA for TAF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for TAF1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004606
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004606
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_004606 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004606

    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 Number (IUBMB): EC 2.7.11.1 

    5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0003677 DNA binding IEA--
    GO:0004402 histone acetyltransferase activity IDA8980232
    GO:0004674 protein serine/threonine kinase activity IDA8625415
    GO:0005515 protein binding IPI7590250 7680771 9858607
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


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

       GeneDecks  TAF1 for the pathways selected above  
    About GeneDecksing

    2 Sigma-Aldrich "Your Favorite Gene" Pathways for  TAF1  (Your Favorite Gene powered by Ingenuity) 
     Estrogen Receptor Signaling
     Glucocorticoid Receptor Signaling

       GeneDecks  TAF1 for the pathways selected above  
    About GeneDecksing

    1 Kegg Pathway  (Kegg details for TAF1):
     hsa03022 Basal transcription factors

       GeneDecks  TAF1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  TAF1 


    5/110 Interacting proteins for TAF1 (ENSP000002760723 P216751, 2) via UniProtKB, MINT, and/or STRING (see all 110 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RB1P064001STRING (score=.998) EBI-491289, EBI-491274
    TBPP202261, 2STRING (score=.999) EBI-491289, EBI-355371 MINT-72607 EBI-491289, EBI-355371 MINT-72607
    GTF2F1P352691EBI-491289, EBI-457886
    E2 E2 (xeno)P031201EBI-491313, EBI-1779322
    TBPP202261, 2STRING (score=.999) EBI-491289, EBI-355371 MINT-72607 EBI-491289, EBI-355371 MINT-72607
    About this table

    5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000080 G1 phase of mitotic cell cycle TAS7680771
    GO:0006350 transcription IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006367 transcription initiation from RNA polymerase II promoter EXP8946909
    GO:0006368 RNA elongation from RNA polymerase II promoter EXP9405375
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for TAF1
    3 Novoseek chemical compound relationships for TAF1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    lysine 32.43 6 11686293 (1), 17996705 (1)
    proline 10.18 2 2038334 (1), 7892648 (1)
    polyacrylamide 4.68 1 9188471 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (TAF1)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (TAF1)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_004606

                  Sigma-Aldrich siRNA and siRNA Panels for TAF1  
                         Sigma-Aldrich shRNA Panels and shRNA for TAF1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_004606  NM_138923  

    REFSEQ mRNAs for TAF1 gene (2 alternative transcripts): 

    NM_004606.3   NM_138923.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_004606  NM_138923  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_004606
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_004606
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_004606 

    Additional cDNA sequence: 

    AB209316.1 AB300418.1 AF149724.1 AJ549245.1 AJ549246.1 AJ549247.1 AJ549248.3 AJ549249.2 
    AJ549250.3 AJ555148.2 AJ555149.2 AK310201.1 AM711892.1 AM711893.1 AM711894.1 AM711895.1 
    BC101123.1 BC101124.1 BC117297.1 D90359.1 M73444.1 X07024.1 

    14 DOTS entries:

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

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

    AJ549248 BX437484 BE466241 BM463339 BX279670 AJ549245 AI246039 NM_004606 
    AJ549247 AW074202 BX404867 NM_138923 AI500610 AJ549250 R66536 BG289819 
    BQ027170 AJ549249 BQ436343 M73444 BQ962632 AW613259 AI275999 AI970464 

    highest scoring ESTs for TAF1:

    D90359 AA677306 AA835778 AI970464 AJ549245 AJ549246 AJ549247 AJ549248 AJ549249 AJ549250 

    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


    GeneLoc Exon Structure

    3 Ensembl transcripts including schematic representations:
    ENST00000373790  ENST00000276072  ENST00000395779  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    TAF1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for TAF1

    1 / 2 / 3

    10 probe-sets matching TAF1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    37491_at2, 3 U95-A 1 1.00 1.00 0.10 1.02 D90359 1.00 1.00 1.00 1

    154_at2, 3 U95-A 1 1.00 1.00 0.82 0.40 X07024 0.60 0.83 0.73 1
    62571_at2, 3 U95-C 2 1.00 0.97 0.64 1.66 AI970464 0.80 1.00 0.91 1

    112_g_at2, 3 U95-A 2 1.00 0.53 -0.14 0.45 X07024 0.60 0.83 0.73 1

    227205_at2, 3 U133-B 1 1.00 1.00 -- -- AW575233 0.60 1.00 0.82 1

    216955_at2, 3 U133-A 1 1.00 1.00 -- -- X07024 0.60 0.83 0.73 1

    216711_s_at2, 3 U133-A 3 1.00 0.80 -- -- M73444 0.60 1.00 0.82 1

    227205_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    216955_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    216711_s_at2 U133Plus2 3 1.00 0.80 -- -- -- -- -- -- --
    GeneDecks  TAF1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TGTGTTTATA

    SOURCE GeneReport for Unigene cluster: Hs.158560

    Expression variation in blood from EXPOLDB for TAF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for TAF1 gene from 5/11 species (see all 11 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    TAF11   -- TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated more 93.89(n)
    98.04(a)
    491950  XM_549070.2  XP_549070.2 
    cow
    (Bos taurus)
    TAF11   -- TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated more 94.18(n)
    98.04(a)
    504792  XM_580963.3  XP_580963.3 
    rat
    (Rattus norvegicus)
    Taf11   -- TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated more 91.26(n)
    96.4(a)
    317256  XM_228551.4  XP_228551.3 
    mouse
    (Mus musculus)
    Taf11, 5 X (38.00 cM)5
    TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated more1, 5 90.87(n)1
    95.72(a)1
    2706271  NM_001081008.11  NP_001074477.11 
     AB2992295  AF0221785  (see all 24)
    zebrafish
    (Danio rerio)
    wufy39f072   -- wufy39f07 77.72(n) 386861  57062714 
    About this table        Species with no ortholog for TAF1

    ENSEMBL Gene Tree for TAF1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for TAF1 gene
    TAF1L2  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/243 NCBI SNPs in TAF1 are shown (see all 243 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 81)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr X posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs105213501,2
    C,F,H70602110(+) TAATGT/CGGTTT 2 -- ut3112Minor allele frequency- C:0.01NS EU EA WA NA 645
    --
    rs70553421,2
    A,C,F70502785(+) TCCCCA/CCTTCC 2 -- ng511Minor allele frequency- C:0.07NS 180
    --
    rs59811051,2
    A,C,F70501715(+) gggtgT/Gtggct 2 -- ng511Minor allele frequency- G:0.07NS 154
    --
    rs283821581,2
    C,F70514271(+) GTGAGC/GTGATA 2 L/V mis17Minor allele frequency- G:0.06NS 804
    rs70538471,2
    F,H70501677(+) TATTAT/CCATAA 2 -- ng514Minor allele frequency- C:0.03EU EA WA 418
    rs66257841,2
    H70519366(+) ATCCAT/GGGAAT 2 G/W mis1 ese34Minor allele frequency- G:0.00EU EA WA 418
    rs59811061,2
    C,F,H70511857(+) ATTACT/CGGTGG 2 T/T syn1 ese35Minor allele frequency- C:0.11EU EA WA NA 496
    rs70507481,2
    A,C,F70544202(+) CTGTCG/ATCCAT 2 S/S syn1 ese35Minor allele frequency- A:0.09NA NS 365
    --
    rs283821621,2
    F70518430(+) CAGGCC/GATGCC 2 A/A syn11Minor allele frequency- G:0.03NS 180
    --
    rs48441481,2
    A,C,F,H70546047(+) TGCATG/ATAAAG 2 -- int111Minor allele frequency- A:0.13EU EA WA NS 1256
    About this table

    HapMap Linkage Disequilibrium images for TAF1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 313650   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
  • 3 Novoseek disease relationships for TAF1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoblastoma 42.06 6 9858607 (1), 9242374 (1), 11278496 (1)
    cancer 0.00 1 11437234 (1)
    tumors 0.00 4 9858607 (1), 9242374 (1), 11278496 (1)
    About this table

    GeneTests: TAF1
    X-Linked Dystonia-Parkinsonism Syndrome

    Human Gene Mutation Database: TAF1
    Genetic Association Database: TAF1
    Human Genome Epidemiology Navigator: TAF1 (15 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/152 PubMed articles for TAF1 gene (see all 152 ):
    (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, and/or H-InvDB)
    About This Section

    Entrez Gene: 6872 HGNC: 11535 AceView: TAF1 Ensembl:ENSG00000147133 euGenes: HUgn6872
    ECgene: TAF1 H-InvDB: TAF1
    (According to HUGE)
    About This Section

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

    NameDescription
    NIEHS-SNPshttp://egp.gs.washington.edu/data/taf1/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for TAF1:
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     Antibodies for TAF1

    GeneCards Homepage    -    Last full update: 2 Jul 2009        Incremental update: 13 Oct 2009

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