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Aliases for TAF1 Gene

Aliases for TAF1 Gene

  • TATA-Box Binding Protein Associated Factor 1 2 3 5
  • TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 250kDa 2 3
  • TBP-Associated Factor 250 KDa 3 4
  • Cell Cycle Gene 1 Protein 3 4
  • EC 2.7.11.1 4 63
  • TAF(II)250 3 4
  • TAFII-250 3 4
  • TAFII250 3 4
  • TAF2A 3 4
  • P250 3 4
  • BA2R 3 4
  • CCG1 3 4
  • CCGS 3 4
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, A, 250kD 2
  • Transcription Initiation Factor TFIID 250 KDa Subunit 4
  • TATA Box Binding Protein Associated Factor 1 3
  • Complementation Of Cell Cycle Block, G1-To-S 3
  • Transcription Factor TFIID P250 Polypeptide 3
  • Dystonia 3 (With Parkinsonism) 2
  • Cell Cycle, G1 Phase Defect 3
  • EC 2.3.1.48 4
  • DYT3/TAF1 3
  • EC 2.7.11 63
  • MRXS33 3
  • N-TAF1 3
  • NSCL2 3
  • KAT4 3
  • DYT3 3
  • XDP 3
  • OF 3

External Ids for TAF1 Gene

Previous HGNC Symbols for TAF1 Gene

  • TAF2A
  • BA2R
  • CCG1
  • CCGS
  • DYT3

Previous GeneCards Identifiers for TAF1 Gene

  • GC0XP066759
  • GC0XP068063
  • GC0XP068819
  • GC0XP069452
  • GC0XP070369
  • GC0XP070502
  • GC0XP070586
  • GC0XP064401

Summaries for TAF1 Gene

Entrez Gene Summary for TAF1 Gene

  • 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. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]

GeneCards Summary for TAF1 Gene

TAF1 (TATA-Box Binding Protein Associated Factor 1) is a Protein Coding gene. Diseases associated with TAF1 include dystonia-parkinsonism, x-linked and dystonia. Among its related pathways are Gene Expression and HIV Life Cycle. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is TAF1L.

UniProtKB/Swiss-Prot for TAF1 Gene

  • 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 (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300).

Gene Wiki entry for TAF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAF1 Gene

Genomics for TAF1 Gene

Regulatory Elements for TAF1 Gene

Promoters for TAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TAF1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the TAF1 gene promoter:

Genomic Location for TAF1 Gene

Chromosome:
X
Start:
71,366,218 bp from pter
End:
71,532,374 bp from pter
Size:
166,157 bases
Orientation:
Plus strand

Genomic View for TAF1 Gene

Genes around TAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TAF1 Gene

Proteins for TAF1 Gene

  • Protein details for TAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21675-TAF1_HUMAN
    Recommended name:
    Transcription initiation factor TFIID subunit 1
    Protein Accession:
    P21675
    Secondary Accessions:
    • A5CVC8
    • A5CVC9
    • A5CVD0
    • A5CVD1
    • B1Q2X3
    • Q59FZ3
    • Q6IUZ1
    • Q70Q86
    • Q70Q87
    • Q70T00
    • Q70T01
    • Q70T02
    • Q70T03

    Protein attributes for TAF1 Gene

    Size:
    1872 amino acids
    Molecular mass:
    212677 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • 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 KMT2A/MLL1, 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). Interacts with herpes simplex virus 1 ICP4.
    Miscellaneous:
    • Isoforms including the downstream (d) exons are preferentially expressed in brain, and may play a role in the regulation of genes involved in dopamine processing and transport.

    Three dimensional structures from OCA and Proteopedia for TAF1 Gene

    Alternative splice isoforms for TAF1 Gene

neXtProt entry for TAF1 Gene

Proteomics data for TAF1 Gene at MOPED

Post-translational modifications for TAF1 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TAF1 (TAF1)

Domains & Families for TAF1 Gene

Protein Domains for TAF1 Gene

Graphical View of Domain Structure for InterPro Entry

P21675

UniProtKB/Swiss-Prot:

TAF1_HUMAN :
  • Contains 2 bromo domains.
  • Belongs to the TAF1 family.
Domain:
  • Contains 2 bromo domains.
  • Contains 1 HMG box DNA-binding domain.
  • Contains 2 protein kinase domains.
Family:
  • Belongs to the TAF1 family.
genes like me logo Genes that share domains with TAF1: view

Function for TAF1 Gene

Molecular function for TAF1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot CatalyticActivity:
Acetyl-CoA + [histone] = CoA + acetyl-[histone].
UniProtKB/Swiss-Prot EnzymeRegulation:
Autophosphorylates on Ser residues. Inhibited by retinoblastoma tumor suppressor protein, RB1. Binding to TAF1 or CIITA inhibits the histone acetyltransferase activity.
UniProtKB/Swiss-Prot 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 (PubMed:11278496, PubMed:15053879, PubMed:2038334, PubMed:8450888, PubMed:8625415, PubMed:9660973, PubMed:9858607). Exhibits histone acetyltransferase activity towards histones H3 and H4 (PubMed:15870300).

Enzyme Numbers (IUBMB) for TAF1 Gene

Gene Ontology (GO) - Molecular Function for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004674 protein serine/threonine kinase activity IDA 8625415
GO:0005515 protein binding IEA,IPI 7565781
GO:0005524 ATP binding IEA --
GO:0044212 contributes_to transcription regulatory region DNA binding ISS --
genes like me logo Genes that share ontologies with TAF1: view
genes like me logo Genes that share phenotypes with TAF1: view

Human Phenotype Ontology for TAF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TAF1 Gene

Localization for TAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TAF1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TAF1 Gene COMPARTMENTS Subcellular localization image for TAF1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 2

No data available for Gene Ontology (GO) - Cellular Components for TAF1 Gene

Pathways & Interactions for TAF1 Gene

genes like me logo Genes that share pathways with TAF1: view

SIGNOR curated interactions for TAF1 Gene

Activates:
Inactivates:

Gene Ontology (GO) - Biological Process for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0006974 cellular response to DNA damage stimulus IC 15053879
GO:0016032 viral process IEA,TAS --
genes like me logo Genes that share ontologies with TAF1: view

Drugs & Compounds for TAF1 Gene

(6) Drugs for TAF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0

(1) Additional Compounds for TAF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TAF1: view

Transcripts for TAF1 Gene

Unigene Clusters for TAF1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for TAF1 Gene

No ASD Table

Relevant External Links for TAF1 Gene

GeneLoc Exon Structure for
TAF1
ECgene alternative splicing isoforms for
TAF1

Expression for TAF1 Gene

mRNA expression in normal human tissues for TAF1 Gene

Protein differential expression in normal tissues from HIPED for TAF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (40.6), Blymphocyte (14.1), and CD8 Tcells (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TAF1 Gene



SOURCE GeneReport for Unigene cluster for TAF1 Gene Hs.158560

genes like me logo Genes that share expression patterns with TAF1: view

Protein tissue co-expression partners for TAF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TAF1 Gene

Orthologs for TAF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TAF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TAF1 35
  • 94.34 (n)
  • 98.24 (a)
-- 36
  • 98 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TAF1 35
  • 93.87 (n)
  • 97.99 (a)
-- 36
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Taf1 35
  • 90.78 (n)
  • 95.61 (a)
Taf1 16
Taf1 36
  • 94 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Taf1 35
  • 91.17 (n)
  • 96.3 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TAF1 35
  • 78.91 (n)
  • 89.28 (a)
-- 36
  • 88 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia taf1 35
  • 76.13 (n)
  • 86.66 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14874 35
zebrafish
(Danio rerio)
Actinopterygii taf1 35
  • 72.23 (n)
  • 81.83 (a)
wufy39f07 35
taf1 36
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Taf1 37
  • 49 (a)
Taf1 35
  • 57.67 (n)
  • 56.51 (a)
Taf1 36
  • 43 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003882 35
  • 56.73 (n)
  • 55.03 (a)
worm
(Caenorhabditis elegans)
Secernentea taf-1 35
  • 50.9 (n)
  • 43.66 (a)
taf-1 36
  • 36 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF1 36
  • 26 (a)
OneToMany
TAF1 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 65 (a)
OneToMany
Species with no ortholog for TAF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TAF1 Gene

ENSEMBL:
Gene Tree for TAF1 (if available)
TreeFam:
Gene Tree for TAF1 (if available)

Paralogs for TAF1 Gene

Paralogs for TAF1 Gene

(2) SIMAP similar genes for TAF1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TAF1: view

Variants for TAF1 Gene

Sequence variations from dbSNP and Humsavar for TAF1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs28382158 - 71,377,696(+) GTGAG(C/G)TGATA nc-transcript-variant, reference, missense
rs35317750 - 71,377,781(-) GTGGA(C/G)CGTAG nc-transcript-variant, reference, missense
VAR_041931 A colorectal adenocarcinoma sample
VAR_041932 A metastatic melanoma sample
VAR_041933 A lung bronchoalveolar carcinoma sample

Structural Variations from Database of Genomic Variants (DGV) for TAF1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
esv33082 CNV Loss 17666407

Variation tolerance for TAF1 Gene

Residual Variation Intolerance Score: 1.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.13; 61.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TAF1 Gene

HapMap Linkage Disequilibrium report
TAF1
Human Gene Mutation Database (HGMD)
TAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TAF1 Gene

Disorders for TAF1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TAF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dystonia-parkinsonism, x-linked
  • dystonia musculorum deformans
dystonia
  • dystonic disease
torsion dystonia
  • dystonia musculorum deformans
retinoblastoma
  • retinoblastoma, trilateral
hemidystonia
- elite association - COSMIC cancer census association via MalaCards
Search TAF1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TAF1_HUMAN
  • Dystonia 3, torsion, X-linked (DYT3) [MIM:314250]: 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. It 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. {ECO:0000269 PubMed:12928496, ECO:0000269 PubMed:17273961}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TAF1

Genetic Association Database (GAD)
TAF1
Human Genome Epidemiology (HuGE) Navigator
TAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TAF1
genes like me logo Genes that share disorders with TAF1: view

No data available for Genatlas for TAF1 Gene

Publications for TAF1 Gene

  1. Structural and functional analysis of the human TAF1/DYT3 multiple transcript system. (PMID: 17952504) Herzfeld T. … MA1ller U. (Mamm. Genome 2007) 2 3 4 23 67
  2. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. (PMID: 12928496) Nolte D. … Muller U. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3 23
  3. TAF1 differentially enhances androgen receptor transcriptional activity via its N-terminal kinase and ubiquitin-activating and -conjugating domains. (PMID: 20181722) Tavassoli P. … Rennie P.S. (Mol. Endocrinol. 2010) 3 23
  4. Transcription factor TAFII250 phosphorylates the acidic domain of Mdm2 through recruitment of protein kinase CK2. (PMID: 18548200) Allende-Vega N. … Meek D. (Mol. Cell. Biochem. 2008) 3 23
  5. TAF1 interacts with and modulates human papillomavirus 16 E2-dependent transcriptional regulation. (PMID: 18580066) Centeno F. … Garrido E. (Intervirology 2008) 3 23

Products for TAF1 Gene

Sources for TAF1 Gene

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