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 ... See more...

Aliases for TAF1 Gene

Aliases for TAF1 Gene

  • TATA-Box Binding Protein Associated Factor 1 2 3 5
  • TAFII250 2 3 4
  • TAF1 RNA Polymerase II, TATA Box Binding Protein (TBP)-Associated Factor, 250kDa 2 3
  • Transcription Initiation Factor TFIID Subunit 1 3 4
  • TBP-Associated Factor 250 KDa 3 4
  • Cell Cycle Gene 1 Protein 3 4
  • EC 2.7.11.1 4 51
  • TAF(II)250 3 4
  • DYT3/TAF1 2 3
  • TAFII-250 3 4
  • NSCL2 2 3
  • TAF2A 3 4
  • BA2R 3 4
  • CCG1 3 4
  • CCGS 3 4
  • KAT4 2 3
  • P250 3 4
  • TATA Box Binding Protein (TBP)-Associated Factor, RNA Polymerase II, A, 250kD 2
  • Transcription Initiation Factor TFIID 250 KDa Subunit 4
  • 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
  • EC 2.7.11 51
  • MRXS33 3
  • N-TAF1 3
  • DYT3 3
  • TAF1 5
  • 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 Mental Retardation, X-Linked, Syndromic 33 and Dystonia 3, Torsion, X-Linked. Among its related pathways are Regulation of TP53 Activity and RNA Polymerase II Transcription Initiation And Promoter Clearance. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for TAF1 Gene

Genomics for TAF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TAF1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TAF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TAF1

Top Transcription factor binding sites by QIAGEN in the TAF1 gene promoter:
  • MyoD
  • TBP
  • TFIID

Genomic Locations for TAF1 Gene

Genomic Locations for TAF1 Gene
chrX:71,366,220-71,532,374
(GRCh38/hg38)
Size:
166,155 bases
Orientation:
Plus strand
chrX:70,586,114-70,752,224
(GRCh37/hg19)
Size:
166,111 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) (PubMed:22464331).
    • (Microbial infection) Interacts with SV40 Large T antigen.
    • (Microbial infection) 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.
    • [Isoform N-TAF1]: Only detected in brain, highest expression in the caudate nucleus.

    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

Gene Families for TAF1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TAF1 Gene

Suggested Antigen Peptide Sequences for TAF1 Gene

GenScript: Design optimal peptide antigens:
  • Dystonia 3 (With Parkinsonism) (A5CVC8_HUMAN)
  • Dystonia 3 (With Parkinsonism) (A5CVC9_HUMAN)
  • Dystonia 3 (With Parkinsonism) (A5CVD1_HUMAN)
  • Putative DYT3 protein (Q70T04_HUMAN)
  • Putative DYT3 protein (Q70T05_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21675

UniProtKB/Swiss-Prot:

TAF1_HUMAN :
  • The Bromo domain mediates interaction with histones that have acetylated lysine residues at specific positions (PubMed:22464331). The second domain also recognizes and binds histones that are butyrylated and crotonylated (PubMed:26365797).
  • Belongs to the TAF1 family.
Domain:
  • The Bromo domain mediates interaction with histones that have acetylated lysine residues at specific positions (PubMed:22464331). The second domain also recognizes and binds histones that are butyrylated and crotonylated (PubMed:26365797).
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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=acetyl-CoA + L-lysyl-[protein] = CoA + H(+) + N(6)-acetyl-L-lysyl-[protein]; Xref=Rhea:RHEA:45948, Rhea:RHEA-COMP:9752, Rhea:RHEA-COMP:10731, ChEBI:CHEBI:15378, ChEBI:CHEBI:29969, ChEBI:CHEBI:57287, ChEBI:CHEBI:57288, ChEBI:CHEBI:61930; EC=2.3.1.48; Evidence={ECO:0000269|PubMed:15870300};.
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.

Enzyme Numbers (IUBMB) for TAF1 Gene

Phenotypes From GWAS Catalog for TAF1 Gene

Gene Ontology (GO) - Molecular Function for TAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000976 contributes_to transcription regulatory region sequence-specific DNA binding ISS --
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding IMP 25412659
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1

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 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

Pathways by source for TAF1 Gene

1 GeneGo (Thomson Reuters) pathway for TAF1 Gene
  • Transcription Ligand-Dependent Transcription of Retinoid-Target genes
7 Qiagen pathways for TAF1 Gene
  • Assembly of RNA Polymerase-II Initiation Complex
  • Crosstalk Between CARM1 and ESRs
  • Estrogen Pathway
  • Glucocorticoid Receptor Signaling
  • Nuclear Receptor Activation by Vitamin-A
1 Cell Signaling Technology pathway for TAF1 Gene

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:0006352 DNA-templated transcription, initiation ISS --
GO:0006355 regulation of transcription, DNA-templated TAS --
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006367 transcription initiation 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 Approved, Experimental, Investigational Pharma 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

mRNA/cDNA for TAF1 Gene

3 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TAF1

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

No ASD Table

Relevant External Links for TAF1 Gene

GeneLoc Exon Structure for
TAF1

Expression for TAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TAF1 Gene



Protein tissue co-expression partners for TAF1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TAF1

SOURCE GeneReport for Unigene cluster for TAF1 Gene:

Hs.158560

Evidence on tissue expression from TISSUES for TAF1 Gene

  • Intestine(5)
  • Liver(4.7)
  • Nervous system(4.6)
  • Heart(4.4)
  • Skin(2.9)
  • Spleen(2.8)
  • Blood(2.8)
  • Kidney(2.7)
  • Muscle(2.6)
  • Lung(2.4)
  • Lymph node(2.4)
  • Bone marrow(2.4)
  • Eye(2.1)
  • Thyroid gland(2.1)

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

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

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 -- 31
  • 98 (a)
OneToMany
TAF1 30
  • 94.34 (n)
Dog
(Canis familiaris)
Mammalia -- 31
  • 98 (a)
OneToMany
TAF1 30
  • 93.87 (n)
Rat
(Rattus norvegicus)
Mammalia Taf1 30
  • 91.17 (n)
Mouse
(Mus musculus)
Mammalia Taf1 30 17 31
  • 90.78 (n)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 86 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 75 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 48 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 88 (a)
OneToMany
TAF1 30
  • 78.91 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 84 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia taf1 30
  • 76.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.14874 30
Zebrafish
(Danio rerio)
Actinopterygii taf1 30 31
  • 72.23 (n)
OneToMany
wufy39f07 30
Fruit Fly
(Drosophila melanogaster)
Insecta Taf1 30 31 32
  • 57.67 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003882 30
  • 56.73 (n)
Worm
(Caenorhabditis elegans)
Secernentea taf-1 30 31
  • 50.9 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TAF1 31 33
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 65 (a)
OneToMany
Species where no ortholog for TAF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TAF1: view image

Paralogs for TAF1 Gene

Paralogs for TAF1 Gene

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

  • TAF1_HUMAN
  • H0Y8N6_HUMAN
  • H0Y9L7_HUMAN
  • H7BY98_HUMAN
  • H7C2K9_HUMAN
  • L8EAA9_HUMAN
genes like me logo Genes that share paralogs with TAF1: view

Variants for TAF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TAF1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
638058 Uncertain Significance: Mental retardation, X-linked, syndromic 33 71,375,235(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
689675 Likely Pathogenic: Marfanoid habitus and intellectual disability 71,423,153(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
694239 Uncertain Significance: Mental retardation, X-linked, syndromic 33 71,377,030(+) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
694240 Likely Benign: Mental retardation, X-linked, syndromic 33 71,377,690(+) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
694241 Uncertain Significance: Mental retardation, X-linked, syndromic 33 71,377,780(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for TAF1 Gene

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)

Additional Variant Information for TAF1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for TAF1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for TAF1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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]: An 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.

Additional Disease Information for TAF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 … Müller U (Mammalian genome : official journal of the International Mammalian Genome Society 2007) 2 3 4 23
  2. Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism. (PMID: 12928496) Nolte D … Müller U (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 4 23
  3. Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. (PMID: 17273961) Makino S … Tamiya G (American journal of human genetics 2007) 3 4 23
  4. TAF1 histone acetyltransferase activity in Sp1 activation of the cyclin D1 promoter. (PMID: 15870300) Hilton TL … Wang EH (Molecular and cellular biology 2005) 3 4 23
  5. Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression. (PMID: 15053879) Li HH … Liu X (Molecular cell 2004) 3 4 23

Products for TAF1 Gene

  • Signalway ELISA kits for TAF1
  • Signalway Proteins for TAF1

Sources for TAF1 Gene