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 )
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Aliases & Descriptions for TAF1
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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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
Search outside databases for aliases for TAF1 genePrevious GC identifers: GC0XP066759 GC0XP068063 GC0XP068819 GC0XP069452 GC0XP070369
Summaries for TAF1 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TAF1 : Initiation of transcription by RNA polymerase II requires the activities of more than 70polypeptides. The protein that coordinates these activities is the basal transcription factorTFIID, which binds to the core promoter to position the polymerase properly, serves as thescaffold for assembly of the remainder of the transcription complex, and acts as a channel forregulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group ofevolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate inbasal transcription, serve as coactivators, function in promoter recognition or modify generaltranscription factors (GTFs) to facilitate complex assembly and transcription initiation. Thisgene encodes the largest subunit of TFIID. This subunit binds to core promoter sequencesencompassing the transcription start site. It also binds to activators and other transcriptionalregulators, and these interactions affect the rate of transcription initiation. This subunitcontains two independent protein kinase domains at the N and C-terminals, but also possessesacetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Twotranscripts 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 ortransphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads toMDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. PossessesDNA-binding activity. Essential for progression of the G1 phase of the cell cycle
Gene Wiki entry for TAF1
Genomic Location 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
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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 Proteins for TAF1
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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 avariety of TBP-associated factors. TAF1, when part of the TFIID complex, interacts with C-terminusof 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 Q70T03Alternative 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 PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_004597.2 NP_620278.1 ENSEMBL proteins: ENSP00000362895 ENSP00000276072 ENSP00000379125 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 4 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for TAF1: Assays for TAF1:
Protein
Domains/ Families for TAF1(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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 familySimilarity : Contains 2 bromo domainsSimilarity : Contains 1 HMG box DNA-binding domainSimilarity : Contains 2 protein kinase domains
Gene Function for TAF1
(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 .)
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               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                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 ortransphosphorylate other transcription factors. Phosphorylates TP53 on 'Thr-55' which leads toMDM2-mediated degradation of TP53. Phosphorylates GTF2A1 and GTF2F1 on Ser residues. PossessesDNA-binding activity. Essential for progression of the G1 phase of the cell cycle Catalytic activity : ATP + a protein = ADP + a phosphoproteinEnzyme regulation : Autophosphorylates on Ser residues. Inhibited by retinoblastoma tumor suppressorprotein, RB1 Enzyme Number (IUBMB): EC 2.7.11.1
5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
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Pathways & Interactions for TAF1
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for TAF1 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for TAF1 5/110 Interacting proteins for TAF1 (ENSP00000276072 3 P21675 1 , 2 ) via UniProtKB, MINT, and/or STRING (see all 110
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
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Drugs & Compounds for TAF1 (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 )
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Browse Tocris compounds for TAF1 3 Novoseek chemical compound relationships for TAF1 gene
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Transcripts for TAF1(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 ,
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               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
Expression for TAF1
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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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 Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TGTGTTTATASOURCE GeneReport for Unigene cluster: Hs.158560 Expression variation in blood from EXPOLDB for TAF1
Orthologs for TAF1
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TAF1 gene from 5/11 species (see all 11
)
About this table Species with no ortholog for TAF1 ENSEMBL Gene Tree for TAF1 Paralogs for TAF1 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TAF1 gene TAF1L 2
SNPs/Variants for TAF1 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TAF1 (up to first 250kb)
Disorders & Mutations for TAF1
(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 .)
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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-linkeddystonia-parkinsonism (XDP). DYT3 is a X-linked dystonia-parkinsonism disorder. Dystonia isdefined by the presence of sustained involuntary muscle contractions, often leading to abnormalpostures. 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 neuronalloss and mosaic gliosis in the striatum (caudate nucleus and putamen) which appears to resemblethat in Huntington disease
3 Novoseek disease relationships for TAF1 gene
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)
Medical News for TAF1 (Possibly Related Articles in
Doctor's Guide )
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--
Publications for TAF1 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/152 PubMed articles for TAF1 gene (see all 152
): Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression. (PubMed id 15053879) 1, 3, 4 Li H.-H.... Liu X. (2004) Rb inhibits the intrinsic kinase activity of TATA-binding protein- associated factor TAFII250. (PubMed id 9858607) 1, 3, 4 Siegert J.L. and Robbins P.D. (1999) Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. (PubMed id 17273961) 1, 3, 4 Makino S.... Tamiya G. (2007) Taf(II) 250 phosphorylates human transcription factor IIA on serine residues important for TBP binding and transcription activity. (PubMed id 11278496) 1, 3, 4 Solow S.... Lieberman P.M. (2001) TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74. (PubMed id 8625415) 1, 3, 4 Dikstein R.... Tjian R. (1996) The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein. (PubMed id 2038334) 1, 3, 4 Sekiguchi T.... Nishimoto T. (1991) Cloning and expression of human TAFII250: a TBP-associated factor implicated in cell-cycle regulation. (PubMed id 7680771) 1, 3, 4 Ruppert S.... Tjian R. (1993) Functional analysis of the human TAFII250 N-terminal kinase domain. (PubMed id 9660973) 1, 3, 4 O'Brien T. and Tjian R. (1998) Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. (PubMed id 12928496) 1, 3, 4 Nolte D.... Muller U. (2003) Risk of cerebral venous thrombosis and novel gene polymorphisms of the coagulation and fibrinolytic systems. (PubMed id 16155788) 3, 6 Lichy C....Grau A. (2006)
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AND OR
Aliases
TAF1 (Gene Symbol) BA2R CCG1 CCGS DYT3 EC 2.7.11.1 KAT4 N-TAF1 NSCL2 OF OTTHUMP00000024334 P250 TAF(II)250 TAF2A TAFII-250 TAFII250 p250 Cell cycle gene 1 protein TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa TAF1 RNA polymerase II, TATA box binding protein-associated factor, 250kDa TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD TBP-associated factor 1 TBP-associated factor 250 kDa Transcription initiation factor TFIID 250 kDa subunit cell cycle, G1 phase defect complementation of cell cycle block, G1-to-S transcription factor TFIID p250 polypeptide
Disorders
X-Linked Dystonia-Parkinsonism Syndrome
Free Text
Query String
PubMed
OMIM
NCBI Bookshelf
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Genome Databases showing TAF1
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TAF1
(According to HUGE )
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Specialized Databases showing TAF1 (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
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Name Description
NIEHS-SNPs http://egp.gs.washington.edu/data/taf1/
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-- Services for TAF1 (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
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Products for TAF1:
Search Tocris compounds for TAF1
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Aliases for TAF1
Databases for TAF1
Disorders for TAF1
Domains/Families for TAF1
Drugs/Compounds for TAF1
Expression for TAF1
Function for TAF1
Location for TAF1
Medical News for TAF1
Orthologs for TAF1
Paralogs for TAF1
Pathways/Interactions for TAF1
Proteins for TAF1
Publications for TAF1
SNPs for TAF1
Search Box for TAF1
Services for TAF1
Summaries for TAF1
Technologies for TAF1
Transcripts for TAF1
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009