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Aliases for TAF1 Gene

Aliases for TAF1 Gene

  • TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 250kDa 2 3
  • TAF2A 3 4 6
  • BA2R 3 4 6
  • CCG1 3 4 6
  • 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
  • P250 3 4
  • CCGS 3 4
  • DYT3 3 6
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, A, 250kD 2
  • Transcription Initiation Factor TFIID 250 KDa Subunit 4
  • Transcription Initiation Factor TFIID Subunit 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
  • N-TAF1 3
  • NSCL2 3
  • KAT4 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 (TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 250kDa) is a Protein Coding gene. Diseases associated with TAF1 include dystonia-parkinsonism, x-linked and generalized dystonia. Among its related pathways are Disease and GPCR Pathway. 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. Exhibits histone acetyltransferase activity towards histones H3 and H4.

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

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

Genomic Location for TAF1 Gene

Start:
71,366,239 bp from pter
End:
71,532,374 bp from pter
Size:
166,136 bases
Orientation:
Plus strand

Genomic View for TAF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 preferencially 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

Other Protein References for TAF1 Gene

Domains for TAF1 Gene

Gene Families for TAF1 Gene

HGNC:
  • KAT :Chromatin-modifying enzymes / K-acetyltransferases
IUPHAR :

Protein Domains for TAF1 Gene

Suggested Antigen Peptide Sequences for TAF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21675

UniProtKB/Swiss-Prot:

TAF1_HUMAN :
  • P21675
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. Exhibits histone acetyltransferase activity towards histones H3 and H4.

Enzyme Numbers (IUBMB) for TAF1 Gene

Gene Ontology (GO) - Molecular Function for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 15053879
GO:0003677 DNA binding --
GO:0003713 transcription coactivator activity IDA 17996705
GO:0004402 histone acetyltransferase activity IDA 8980232
GO:0004674 protein serine/threonine kinase activity IDA 15053879
genes like me logo Genes that share ontologies with TAF1: view

Phenotypes for TAF1 Gene

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

miRNA for TAF1 Gene

miRTarBase miRNAs that target TAF1

No data available for Animal Models , Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm TAS --
GO:0005669 transcription factor TFIID complex IDA 14580349
GO:0071339 MLL1 complex IDA 15960975
genes like me logo Genes that share ontologies with TAF1: view

Pathways for TAF1 Gene

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

Gene Ontology (GO) - Biological Process for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006352 DNA-templated transcription, initiation ISS --
GO:0006355 regulation of transcription, DNA-templated --
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 --
genes like me logo Genes that share ontologies with TAF1: view

Compounds for TAF1 Gene

(1) HMDB Compounds for TAF1 Gene

Compound Synonyms Cas Number PubMed IDs
Magnesium
  • Magnesium
7439-95-4

(6) Novoseek inferred chemical compound relationships for TAF1 Gene

Compound -log(P) Hits PubMed IDs
lysine 31.1 2
proline 8.77 2
polyacrylamide 3.61 1
alanine 0 1
serine 0 4
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with TAF1: view

No data available for 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 -- 36
  • 98 (a)
OneToMany
TAF1 35
  • 94.34 (n)
  • 98.24 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 98 (a)
OneToMany
TAF1 35
  • 93.87 (n)
  • 97.99 (a)
mouse
(Mus musculus)
Mammalia Taf1 35
  • 90.78 (n)
  • 95.61 (a)
Taf1 16
Taf1 36
  • 94 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 56 (a)
ManyToMany
-- 36
  • 75 (a)
ManyToMany
-- 36
  • 48 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Taf1 35
  • 91.17 (n)
  • 96.3 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 88 (a)
OneToMany
TAF1 35
  • 78.91 (n)
  • 89.28 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 84 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.14874 35
tropical clawed frog
(Silurana tropicalis)
Amphibia taf1 35
  • 76.13 (n)
  • 86.66 (a)
zebrafish
(Danio rerio)
Actinopterygii taf1 35
  • 72.23 (n)
  • 81.83 (a)
taf1 36
  • 77 (a)
OneToMany
wufy39f07 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003882 35
  • 56.73 (n)
  • 55.03 (a)
fruit fly
(Drosophila melanogaster)
Insecta Taf1 35
  • 57.67 (n)
  • 56.51 (a)
Taf1 36
  • 43 (a)
OneToMany
Taf1 37
  • 49 (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

Selected 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 MAF
rs1258 -- 71,387,439(-) TATGC(A/G)TATTG reference, missense, nc-transcript-variant
rs1023019 -- 71,508,092(-) atata(G/T)atata intron-variant
rs1023020 -- 71,508,090(-) atata(G/T)ataga intron-variant
rs1023021 -- 71,508,088(-) atata(G/T)agaga intron-variant
rs3765221 -- 71,458,422(+) GGCTA(A/G)GGGAA intron-variant

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

Relevant External Links for TAF1 Gene

HapMap Linkage Disequilibrium report
TAF1
Human Gene Mutation Database (HGMD)
TAF1
Locus Specific Mutation Databases (LSDB)
TAF1

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

Disorders for TAF1 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for TAF1 Gene including...

Search for TAF1 Gene in MalaCards »

(1) OMIM Diseases for TAF1 Gene (313650)

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.

(2) University of Copenhagen DISEASES for TAF1 Gene

(3) Novoseek inferred disease relationships for TAF1 Gene

Disease -log(P) Hits PubMed IDs
retinoblastoma 41 3
tumors 0 3
cancer 0 2

Relevant External Links for TAF1

GeneTests
TAF1
GeneReviews
TAF1
Genetic Association Database (GAD)
TAF1
Human Genome Epidemiology (HuGE) Navigator
TAF1
genes like me logo Genes that share disorders with TAF1: view

Publications for TAF1 Gene

  1. 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 4 23
  2. 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
  3. Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression. (PMID: 15053879) Li H.-H. … Liu X. (Mol. Cell 2004) 3 4 23
  4. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. (PMID: 17273961) Makino S. … Tamiya G. (Am. J. Hum. Genet. 2007) 3 4 23
  5. Taf(II) 250 phosphorylates human transcription factor IIA on serine residues important for TBP binding and transcription activity. (PMID: 11278496) Solow S. … Lieberman P.M. (J. Biol. Chem. 2001) 3 4 23

Products for TAF1 Gene

  • Addgene plasmids for TAF1

Sources for TAF1 Gene

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