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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 61
  • 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
  • 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 61
  • 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 Mental Retardation, X-Linked, Syndromic, 33. Among its related pathways are HIV Life Cycle and PEDF Induced Signaling. 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 (PubMed:25412659, PubMed:27007846). 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 (PubMed:25412659). 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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TAF1 Gene

Genomics for TAF1 Gene

Regulatory Elements for TAF1 Gene

Enhancers for TAF1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XG071530 1.4 ENCODE dbSUPER 12 +167.1 167052 4.8 CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC TBX21 ZNF610 NBN TAF1 ERCC6L SNX12 RTL5 OGT GCNA
GH0XG071300 1 Ensembl ENCODE 12.6 -64.3 -64261 2.0 FOXA2 JUN YY1 FOSL1 POLR2A PATZ1 HNF4G FOS PAF1 FOXA3 ZMYM3 ENSG00000228427 TAF1 MED12 IL2RG ITGB1BP2 LOC100131556
GH0XG071565 0.6 dbSUPER 11.5 +200.1 200060 1.3 PAF1 NFIC ZNF146 NFIB ZSCAN5C ZBTB40 CXCR3 TAF1 GCNA OGT
GH0XG071117 0.9 ENCODE 5 -247.5 -247481 2.6 TBP RB1 NFRKB WRNIP1 ARID4B DEAF1 DMAP1 YY1 THAP11 SP3 MED12 IL2RG TAF1 GC0XP071138
GH0XG071181 2 FANTOM5 Ensembl ENCODE dbSUPER 1.3 -183.3 -183347 3.5 PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 LOC100420758 OGT RTL5 P2RY4 RPS23P8 ENSG00000229601 SNX12 RAB41 IL2RG CXCR3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TAF1 on UCSC Golden Path with GeneCards custom track

Promoters for TAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000247128 282 2601 ATF1 WRNIP1 ARID4B SIN3A GLI4 BRCA1 ZNF2 YY1 ZNF121 ZNF766

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 (PubMed:7680771). TAF1, when part of the TFIID complex, interacts with C-terminus of TP53 (PubMed:15053879). Part of a TFIID-containing RNA polymerase II pre-initiation complex that is composed of TBP and at least GTF2A1, GTF2A2, GTF2E1, GTF2E2, GTF2F1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, GTF2B, TCEA1, ERCC2, ERCC3, TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13 (PubMed:27007846). Interacts with TAF7; the interaction is direct (PubMed:25412659). 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 (PubMed:10759893, PubMed:12093919, PubMed:12842904). 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 SV40 Large T antigen (PubMed:8647434). Interacts with herpes simplex virus 1 ICP4 (PubMed:8649420).
    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

Selected DME Specific Peptides for TAF1 Gene

P21675:
  • HTSPFLG
  • RLEKAINPLLDDDDQVA
  • RRIQEQLRR
  • KIKNYYKRK
  • RDFLQVFIYRLFWKS
  • VPEEEIKKLSRWEVIDVVRT
  • EEEIRAMVSPEQCCAY
  • GHMRTNK
  • CADFKRTGMDSNWWV
  • FHRPPLKKYS
  • VTGTDADLRRL
  • KDPGAPD
  • APWNTTRA
  • VLTLDPNDEN
  • EVPGPNSKRAN
  • PDLKLKCGACG
  • ADPTGCGEGFSYV
  • SMIAAEQRLKDAGYGEK
  • NDENLILE
  • HSESSIRKRLK
  • PMDLETI
  • AEHQERYKEECQRIFDLQN

Post-translational modifications for TAF1 Gene

Domains & Families for TAF1 Gene

Graphical View of Domain Structure for InterPro Entry

P21675

UniProtKB/Swiss-Prot:

TAF1_HUMAN :
  • Belongs to the TAF1 family.
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 (PubMed:25412659, PubMed:27007846). 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 (PubMed:25412659). 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:0000979 RNA polymerase II core promoter sequence-specific DNA binding IPI 25412659
GO:0001075 contributes_to transcription factor activity, RNA polymerase II core promoter sequence-specific binding involved in preinitiation complex assembly IBA --
GO:0001129 RNA polymerase II transcription factor activity, TBP-class protein binding, involved in preinitiation complex assembly IBA --
GO:0002039 p53 binding IPI 15053879
GO:0003677 DNA binding IEA --
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TAF1 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 20181722
GO:0005634 nucleus IDA 12498690
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IPI 25412659
GO:0005669 transcription factor TFIID complex TAS 12498690
genes like me logo Genes that share ontologies with TAF1: view

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:0000209 protein polyubiquitination IDA 20181722
GO:0006351 transcription, DNA-templated IEA --
GO:0006352 DNA-templated transcription, initiation ISS --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TAF1 Gene



Protein tissue co-expression partners for TAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TAF1 Gene:

TAF1

SOURCE GeneReport for Unigene cluster for TAF1 Gene:

Hs.158560

Evidence on tissue expression from TISSUES for TAF1 Gene

  • Intestine(5)
  • Liver(4.6)
  • Nervous system(4.4)
  • Heart(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TAF1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TAF1: view

Primer 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 -- 35
  • 98 (a)
OneToMany
TAF1 34
  • 94.34 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 98 (a)
OneToMany
TAF1 34
  • 93.87 (n)
rat
(Rattus norvegicus)
Mammalia Taf1 34
  • 91.17 (n)
mouse
(Mus musculus)
Mammalia Taf1 34 16 35
  • 90.78 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 86 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 75 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 48 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 88 (a)
OneToMany
TAF1 34
  • 78.91 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 84 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia taf1 34
  • 76.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14874 34
zebrafish
(Danio rerio)
Actinopterygii taf1 34 35
  • 72.23 (n)
wufy39f07 34
fruit fly
(Drosophila melanogaster)
Insecta Taf1 36 34 35
  • 57.67 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003882 34
  • 56.73 (n)
worm
(Caenorhabditis elegans)
Secernentea taf-1 34 35
  • 50.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF1 35 37
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToMany
Species where no ortholog for TAF1 was found in the sources mined by GeneCards:
  • 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
rs864321627 Pathogenic, Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] 71,401,691(+) ACTTA(C/T)CAAGG nc-transcript-variant, reference, missense
rs864321628 Pathogenic, Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] 71,387,393(+) AGCAG(C/T)GTCCC nc-transcript-variant, reference, missense
rs864321629 Pathogenic, Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] 71,398,627(+) AACGG(C/T)GGAGG nc-transcript-variant, reference, missense
rs864321630 Pathogenic, Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] 71,382,821(+) ATTAT(C/T)CCAAG nc-transcript-variant, reference, missense
rs864321631 Pathogenic, Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] 71,392,653(+) TGGCA(C/G)ATCCC nc-transcript-variant, reference, missense

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
nsv1119636 CNV deletion 24896259
nsv1128540 CNV deletion 24896259
nsv512678 CNV loss 21212237

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

Human Gene Mutation Database (HGMD)
TAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TAF1

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

Disorders for TAF1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
dystonia-parkinsonism, x-linked
  • dystonia 3, torsion, x-linked
mental retardation, x-linked, syndromic, 33
  • mrxs33
dystonia
  • dystonic disease
x-linked dystonia-parkinsonism/lubag
  • dystonia 3, torsion, x-linked
dystonia-1, torsion
  • dystonia 3, torsion, x-linked
- 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.
  • Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966]: A mental retardation syndrome characterized by intellectual deficit, delayed psychomotor development, delayed speech and language, and characteristic facial features. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:26637982}. 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 22 64
  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 4 22 64
  3. 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 22 64
  4. TAF1 histone acetyltransferase activity in Sp1 activation of the cyclin D1 promoter. (PMID: 15870300) Hilton T.L. … Wang E.H. (Mol. Cell. Biol. 2005) 3 4 22 64
  5. 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 22 64

Products for TAF1 Gene

  • Addgene plasmids for TAF1

Sources for TAF1 Gene

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