Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TAF1 (TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa)

Identity

Other namesBA2R
CCG1
CCGS
DYT3
DYT3/TAF1
KAT4
N-TAF1
NSCL2
OF
P250
TAF(II)250
TAF2A
TAFII-250
TAFII250
XDP
HGNC (Hugo) TAF1
LocusID (NCBI) 6872
Atlas_Id 43523
Location Xq13.1
Location_base_pair Starts at 70586089 and ends at 70685855 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)TAF1   11535
Cards
Entrez_Gene (NCBI)TAF1  6872  TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
GeneCards (Weizmann)TAF1
Ensembl hg19 (Hinxton)ENSG00000147133 [Gene_View]  chrX:70586089-70685855 [Contig_View]  TAF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147133 [Gene_View]  chrX:70586089-70685855 [Contig_View]  TAF1 [Vega]
ICGC DataPortalENSG00000147133
TCGA cBioPortalTAF1
AceView (NCBI)TAF1
Genatlas (Paris)TAF1
WikiGenes6872
SOURCE (Princeton)TAF1
Genomic and cartography
GoldenPath hg19 (UCSC)TAF1  -     chrX:70586089-70685855 +  Xq13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TAF1  -     Xq13.1   [Description]    (hg38-Dec_2013)
EnsemblTAF1 - Xq13.1 [CytoView hg19]  TAF1 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBITAF1 [Mapview hg19]  TAF1 [Mapview hg38]
OMIM313650   314250   
Gene and transcription
Genbank (Entrez)AB209316 AB300418 AJ549245 AJ549246 AJ549247
RefSeq transcript (Entrez)NM_001286074 NM_004606 NM_138923
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_012771 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)TAF1
Cluster EST : UnigeneHs.158560 [ NCBI ]
CGAP (NCI)Hs.158560
Alternative Splicing : Fast-db (Paris)GSHG0031612
Alternative Splicing GalleryENSG00000147133
Gene ExpressionTAF1 [ NCBI-GEO ]     TAF1 [ SEEK ]   TAF1 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21675 (Uniprot)
NextProtP21675  [Medical]  [Publications]
With graphics : InterProP21675
Splice isoforms : SwissVarP21675 (Swissvar)
Catalytic activity : Enzyme2.3.1.48 [ Enzyme-Expasy ]   2.3.1.482.3.1.48 [ IntEnz-EBI ]   2.3.1.48 [ BRENDA ]   2.3.1.48 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)   
Domains : Interpro (EBI)Bromodomain    Bromodomain_CS    TAF1_animal    TAF_II_230-bd    TFIID_sub1_DUF3591   
Related proteins : CluSTrP21675
Domain families : Pfam (Sanger)Bromodomain (PF00439)    DUF3591 (PF12157)    TBP-binding (PF09247)   
Domain families : Pfam (NCBI)pfam00439    pfam12157    pfam09247   
Domain families : Smart (EMBL)BROMO (SM00297)  
DMDM Disease mutations6872
Blocks (Seattle)P21675
PDB (SRS)1EQF    3AAD    3UV4    3UV5    4RGW   
PDB (PDBSum)1EQF    3AAD    3UV4    3UV5    4RGW   
PDB (IMB)1EQF    3AAD    3UV4    3UV5    4RGW   
PDB (RSDB)1EQF    3AAD    3UV4    3UV5    4RGW   
Human Protein AtlasENSG00000147133
Peptide AtlasP21675
HPRD02436
IPIIPI00009891   IPI00939191   IPI00828032   IPI00645793   IPI00874222   IPI00877098   IPI00149098   IPI00965956   IPI00428046   IPI00428047   IPI01024734   IPI00966613   IPI00966294   
Protein Interaction databases
DIP (DOE-UCLA)P21675
IntAct (EBI)P21675
FunCoupENSG00000147133
BioGRIDTAF1
IntegromeDBTAF1
STRING (EMBL)TAF1
Ontologies - Pathways
QuickGOP21675
Ontology : AmiGOp53 binding  transcription coactivator activity  histone acetyltransferase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleoplasm  nucleoplasm  transcription factor TFIID complex  DNA-templated transcription, initiation  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  cellular response to DNA damage stimulus  cell cycle  transcription factor binding  gene expression  viral process  histone acetylation  histone acetylation  TBP-class protein binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein autophosphorylation  protein autophosphorylation  RNA polymerase II transcriptional preinitiation complex assembly  positive regulation of transcription initiation from RNA polymerase II promoter  lysine-acetylated histone binding  MLL1 complex  
Ontology : EGO-EBIp53 binding  transcription coactivator activity  histone acetyltransferase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleoplasm  nucleoplasm  transcription factor TFIID complex  DNA-templated transcription, initiation  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  cellular response to DNA damage stimulus  cell cycle  transcription factor binding  gene expression  viral process  histone acetylation  histone acetylation  TBP-class protein binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein autophosphorylation  protein autophosphorylation  RNA polymerase II transcriptional preinitiation complex assembly  positive regulation of transcription initiation from RNA polymerase II promoter  lysine-acetylated histone binding  MLL1 complex  
Pathways : BIOCARTAHypoxia and p53 in the Cardiovascular system [Genes]   
Pathways : KEGGBasal transcription factors   
Protein Interaction DatabaseTAF1
DoCM (Curated mutations)TAF1
Wikipedia pathwaysTAF1
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerTAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAF1
dbVarTAF1
ClinVarTAF1
1000_GenomesTAF1 
Exome Variant ServerTAF1
SNP (GeneSNP Utah)TAF1
SNP : HGBaseTAF1
Genetic variants : HAPMAPTAF1
Genomic Variants (DGV)TAF1 [DGVbeta]
Mutations
ICGC Data PortalTAF1 
TCGA Data PortalTAF1 
Tumor PortalTAF1
Somatic Mutations in Cancer : COSMICTAF1 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:70586089-70685855
CONAN: Copy Number AnalysisTAF1 
Mutations and Diseases : HGMDTAF1
OMIM313650    314250   
MedgenTAF1
NextProtP21675 [Medical]
GENETestsTAF1
Disease Genetic AssociationTAF1
Huge Navigator TAF1 [HugePedia]  TAF1 [HugeCancerGEM]
snp3D : Map Gene to Disease6872
DGIdb (Drug Gene Interaction db)TAF1
BioCentury BCIQTAF1
General knowledge
Homologs : HomoloGeneTAF1
Homology/Alignments : Family Browser (UCSC)TAF1
Phylogenetic Trees/Animal Genes : TreeFamTAF1
Chemical/Protein Interactions : CTD6872
Chemical/Pharm GKB GenePA36310
Clinical trialTAF1
Cancer Resource (Charite)ENSG00000147133
Other databases
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
CoreMineTAF1
GoPubMedTAF1
iHOPTAF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 12:22:38 CEST 2015

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