Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TAF1 (TATA-box binding protein associated factor 1)

Identity

Alias_namesTAF2A
BA2R
CCG1
CCGS
DYT3
TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD
dystonia 3 (with Parkinsonism)
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
Alias_symbol (synonym)NSCL2
TAFII250
KAT4
DYT3/TAF1
Other aliasMRXS33
N-TAF1
OF
P250
TAF(II)250
TAFII-250
XDP
HGNC (Hugo) TAF1
LocusID (NCBI) 6872
Atlas_Id 43523
Location Xq13.1  [Link to chromosome band Xq13]
Location_base_pair Starts at 71366239 and ends at 71466005 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TAF1 (Xq13.1) / NUP214 (9q34.13)

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  TATA-box binding protein associated factor 1
AliasesBA2R; CCG1; CCGS; DYT3; 
DYT3/TAF1; KAT4; MRXS33; N-TAF1; NSCL2; OF; P250; TAF(II)250; TAF2A; TAFII-250; TAFII250; XDP
GeneCards (Weizmann)TAF1
Ensembl hg19 (Hinxton)ENSG00000147133 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147133 [Gene_View]  chrX:71366239-71466005 [Contig_View]  TAF1 [Vega]
ICGC DataPortalENSG00000147133
TCGA cBioPortalTAF1
AceView (NCBI)TAF1
Genatlas (Paris)TAF1
WikiGenes6872
SOURCE (Princeton)TAF1
Genetics Home Reference (NIH)TAF1
Genomic and cartography
GoldenPath hg38 (UCSC)TAF1  -     chrX:71366239-71466005 +  Xq13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TAF1  -     Xq13.1   [Description]    (hg19-Feb_2009)
EnsemblTAF1 - Xq13.1 [CytoView hg19]  TAF1 - Xq13.1 [CytoView hg38]
Mapping of homologs : NCBITAF1 [Mapview hg19]  TAF1 [Mapview hg38]
OMIM300966   313650   314250   
Gene and transcription
Genbank (Entrez)AB209316 AB300418 AJ549245 AJ549246 AJ549247
RefSeq transcript (Entrez)NM_001286074 NM_004606 NM_138923
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TAF1
Cluster EST : UnigeneHs.158560 [ NCBI ]
CGAP (NCI)Hs.158560
Alternative Splicing GalleryENSG00000147133
Gene ExpressionTAF1 [ NCBI-GEO ]   TAF1 [ EBI - ARRAY_EXPRESS ]   TAF1 [ SEEK ]   TAF1 [ MEM ]
Gene Expression Viewer (FireBrowse)TAF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6872
GTEX Portal (Tissue expression)TAF1
Human Protein AtlasENSG00000147133-TAF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21675   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21675  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21675
Splice isoforms : SwissVarP21675
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 ]   
PhosPhoSitePlusP21675
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   
Domain families : Pfam (Sanger)Bromodomain (PF00439)    DUF3591 (PF12157)    TBP-binding (PF09247)   
Domain families : Pfam (NCBI)pfam00439    pfam12157    pfam09247   
Domain families : Smart (EMBL)BROMO (SM00297)  
Conserved Domain (NCBI)TAF1
DMDM Disease mutations6872
Blocks (Seattle)TAF1
PDB (SRS)1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
PDB (PDBSum)1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
PDB (IMB)1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
PDB (RSDB)1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
Structural Biology KnowledgeBase1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
SCOP (Structural Classification of Proteins)1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
CATH (Classification of proteins structures)1EQF    3AAD    3UV4    3UV5    4RGW    4YYM    4YYN    5FUR    5I1Q    5I29   
SuperfamilyP21675
Human Protein Atlas [tissue]ENSG00000147133-TAF1 [tissue]
Peptide AtlasP21675
HPRD02436
IPIIPI00009891   IPI00939191   IPI00828032   IPI00645793   IPI00874222   IPI00877098   IPI00149098   IPI00965956   IPI00428046   IPI00428047   IPI01024734   3.1/wgetz?-newId+[IPI-AllText:IPI00966613]%26[IPI-NCBI_TaxID:9606]+-lv+30+-view+SeqSimpleView+-page+qResult TARGET=IPI>IPI00966613   IPI00966294   
Protein Interaction databases
DIP (DOE-UCLA)P21675
IntAct (EBI)P21675
FunCoupENSG00000147133
BioGRIDTAF1
STRING (EMBL)TAF1
ZODIACTAF1
Ontologies - Pathways
QuickGOP21675
Ontology : AmiGOprotein polyubiquitination  nuclear chromatin  RNA polymerase II core promoter sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly  RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly  p53 binding  transcription coactivator activity  histone acetyltransferase activity  histone acetyltransferase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  nucleoplasm  transcription factor complex  transcription factor TFIID complex  transcription factor TFIID complex  nucleolus  DNA-templated transcription, initiation  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  protein phosphorylation  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  cell cycle  transcription factor binding  positive regulation of cell proliferation  negative regulation of gene expression  regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage  viral process  kinase activity  histone acetylation  TBP-class protein binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  midbrain development  positive regulation of protein binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  cellular response to UV  transcription factor catabolic process  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase I promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein autophosphorylation  protein autophosphorylation  protein heterodimerization activity  protein stabilization  RNA polymerase II transcriptional preinitiation complex assembly  regulation of transcription initiation from RNA polymerase II promoter  positive regulation of transcription initiation from RNA polymerase II promoter  H3K27me3 modified histone binding  ubiquitin conjugating enzyme activity  lysine-acetylated histone binding  cellular response to ATP  MLL1 complex  regulation of signal transduction by p53 class mediator  regulation of cell cycle G1/S phase transition  negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding  acetyl-CoA binding  negative regulation of protein autoubiquitination  negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  positive regulation of androgen receptor activity  
Ontology : EGO-EBIprotein polyubiquitination  nuclear chromatin  RNA polymerase II core promoter sequence-specific DNA binding  transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly  RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly  p53 binding  transcription coactivator activity  histone acetyltransferase activity  histone acetyltransferase activity  protein serine/threonine kinase activity  protein serine/threonine kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  nucleoplasm  nucleoplasm  transcription factor complex  transcription factor TFIID complex  transcription factor TFIID complex  nucleolus  DNA-templated transcription, initiation  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  protein phosphorylation  cellular response to DNA damage stimulus  cellular response to DNA damage stimulus  cell cycle  transcription factor binding  positive regulation of cell proliferation  negative regulation of gene expression  regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage  viral process  kinase activity  histone acetylation  TBP-class protein binding  peptidyl-serine phosphorylation  peptidyl-threonine phosphorylation  midbrain development  positive regulation of protein binding  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  cellular response to UV  transcription factor catabolic process  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  sequence-specific DNA binding  transcription regulatory region DNA binding  positive regulation of transcription from RNA polymerase I promoter  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  protein autophosphorylation  protein autophosphorylation  protein heterodimerization activity  protein stabilization  RNA polymerase II transcriptional preinitiation complex assembly  regulation of transcription initiation from RNA polymerase II promoter  positive regulation of transcription initiation from RNA polymerase II promoter  H3K27me3 modified histone binding  ubiquitin conjugating enzyme activity  lysine-acetylated histone binding  cellular response to ATP  MLL1 complex  regulation of signal transduction by p53 class mediator  regulation of cell cycle G1/S phase transition  negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding  acetyl-CoA binding  negative regulation of protein autoubiquitination  negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process  positive regulation of androgen receptor activity  
Pathways : BIOCARTAHypoxia and p53 in the Cardiovascular system [Genes]   
Pathways : KEGGBasal transcription factors   
NDEx NetworkTAF1
Atlas of Cancer Signalling NetworkTAF1
Wikipedia pathwaysTAF1
Orthology - Evolution
OrthoDB6872
GeneTree (enSembl)ENSG00000147133
Phylogenetic Trees/Animal Genes : TreeFamTAF1
HOVERGENP21675
HOGENOMP21675
Homologs : HomoloGeneTAF1
Homology/Alignments : Family Browser (UCSC)TAF1
Gene fusions - Rearrangements
Tumor Fusion PortalTAF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTAF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TAF1
dbVarTAF1
ClinVarTAF1
1000_GenomesTAF1 
Exome Variant ServerTAF1
ExAC (Exome Aggregation Consortium)ENSG00000147133
GNOMAD BrowserENSG00000147133
Genetic variants : HAPMAP6872
Genomic Variants (DGV)TAF1 [DGVbeta]
DECIPHERTAF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTAF1 
Mutations
ICGC Data PortalTAF1 
TCGA Data PortalTAF1 
Broad Tumor PortalTAF1
OASIS PortalTAF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTAF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTAF1
intOGen PortalTAF1
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
BioMutasearch TAF1
DgiDB (Drug Gene Interaction Database)TAF1
DoCM (Curated mutations)TAF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TAF1 (select a term)
intoGenTAF1
Cancer3DTAF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300966    313650    314250   
Orphanet10720   
DisGeNETTAF1
MedgenTAF1
Genetic Testing Registry TAF1
NextProtP21675 [Medical]
TSGene6872
GENETestsTAF1
Target ValidationTAF1
Huge Navigator TAF1 [HugePedia]
snp3D : Map Gene to Disease6872
BioCentury BCIQTAF1
ClinGenTAF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6872
Chemical/Pharm GKB GenePA36310
Clinical trialTAF1
Miscellaneous
canSAR (ICR)TAF1 (select the gene name)
Probes
Litterature
PubMed169 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTAF1
EVEXTAF1
GoPubMedTAF1
iHOPTAF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:37:33 CET 2017

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