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Aliases for BTAF1 Gene

Aliases for BTAF1 Gene

  • B-TFIID TATA-Box Binding Protein Associated Factor 1 2 3 5
  • B-TFIID Transcription Factor-Associated 170 KDa Subunit 3 4
  • ATP-Dependent Helicase BTAF1 3 4
  • TBP-Associated Factor 172 3 4
  • TAF(II)170 3 4
  • TAF172 3 4
  • BTAF1 RNA Polymerase II, B-TFIID Transcription Factor-Associated, 170 KD (Mot1 Homolog, S. Cerevisiae) 2
  • BTAF1 RNA Polymerase II, B-TFIID Transcription Factor-Associated, 170kDa (Mot1 Homolog, S. Cerevisiae) 3
  • BTAF1 RNA Polymerase II, B-TFIID Transcription Factor-Associated, 170kDa 2
  • TATA-Binding Protein-Associated Factor 172 3
  • Mot1 Homolog (S. Cerevisiae) 2
  • Mot1 Homolog 3
  • EC 3.6.4.- 4
  • TAFII170 3
  • EC 3.6.1 61
  • TAF-172 4
  • MOT1 3

External Ids for BTAF1 Gene

Previous GeneCards Identifiers for BTAF1 Gene

  • GC10P092564
  • GC10P092905
  • GC10P093814
  • GC10P093348
  • GC10P093338
  • GC10P093673
  • GC10P087312

Summaries for BTAF1 Gene

Entrez Gene Summary for BTAF1 Gene

  • This gene encodes a TAF (TATA box-binding protein-associated factor), which associates with TBP (TATA box-binding protein) to form the B-TFIID complex that is required for transcription initiation of genes by RNA polymerase II. This TAF has DNA-dependent ATPase activity, which drives the dissociation of TBP from DNA, freeing the TBP to associate with other TATA boxes or TATA-less promoters. [provided by RefSeq, Sep 2011]

GeneCards Summary for BTAF1 Gene

BTAF1 (B-TFIID TATA-Box Binding Protein Associated Factor 1) is a Protein Coding gene. Diseases associated with BTAF1 include Epilepsy, Familial Temporal Lobe, 1. Among its related pathways are Mesodermal Commitment Pathway and Chromatin Regulation / Acetylation. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and helicase activity. An important paralog of this gene is SMARCAL1.

UniProtKB/Swiss-Prot for BTAF1 Gene

  • Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

Gene Wiki entry for BTAF1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BTAF1 Gene

Genomics for BTAF1 Gene

Regulatory Elements for BTAF1 Gene

Enhancers for BTAF1 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
GH10G092754 2.2 VISTA FANTOM5 Ensembl ENCODE 31 +832.6 832584 4.2 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B FEZF1 ZNF2 ZNF766 CBX5 ZNF548 BTAF1 RPL17P34 MARK2P9 EXOC6 MARCH5 HHEX GC10P092747 GC10M092781
GH10G092590 1.6 FANTOM5 ENCODE 26 +669.2 669245 5.5 MLX AGO1 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC BTAF1 TNKS2 RPL17P34 EIF2S2P3 KIF11 TNKS2-AS1 CPEB3 MARCH5 IDE
GH10G091607 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.8 -315.0 -315001 2.6 PKNOX1 CREB3L1 ARNT DMAP1 YY1 ZNF766 ZNF416 DEK MCM3 REST RPP30 PPP1R3C FGFBP3 BTAF1 TNKS2-AS1 HECTD2 TNKS2 HECTD2-AS1 LOC105378433
GH10G091587 2.1 VISTA Ensembl ENCODE dbSUPER 16.8 -332.6 -332550 7.3 PKNOX1 FOXA2 SIN3A FEZF1 ZNF766 ZNF548 FOS JUNB REST SMARCB1 RPP30 BTAF1 TNKS2-AS1 FGFBP3 HECTD2 PPP1R3C TNKS2 HECTD2-AS1 LOC105378433
GH10G092572 1.1 ENCODE 25.9 +650.0 650017 3.2 PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS BTAF1 RPL17P34 MARK2P9 IDE EIF2S2P3 GC10M092559
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BTAF1 on UCSC Golden Path with GeneCards custom track

Promoters for BTAF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031618 431 2001 PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for BTAF1 Gene

Chromosome:
10
Start:
91,923,769 bp from pter
End:
92,030,998 bp from pter
Size:
107,230 bases
Orientation:
Plus strand

Genomic View for BTAF1 Gene

Genes around BTAF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BTAF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BTAF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BTAF1 Gene

Proteins for BTAF1 Gene

  • Protein details for BTAF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14981-BTAF1_HUMAN
    Recommended name:
    TATA-binding protein-associated factor 172
    Protein Accession:
    O14981
    Secondary Accessions:
    • B4E0W6
    • O43578

    Protein attributes for BTAF1 Gene

    Size:
    1849 amino acids
    Molecular mass:
    206887 Da
    Quaternary structure:
    • Associates with TBP to form B-TFIID. Binds DRAP1.

    Alternative splice isoforms for BTAF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BTAF1 Gene

Selected DME Specific Peptides for BTAF1 Gene

O14981:
  • QAMDRAHR
  • NLTGADTV
  • MGLGKTL
  • RAHRIGQ

Post-translational modifications for BTAF1 Gene

  • Ubiquitination at posLast=430430
  • Modification sites at PhosphoSitePlus

Domains & Families for BTAF1 Gene

Graphical View of Domain Structure for InterPro Entry

O14981

UniProtKB/Swiss-Prot:

BTAF1_HUMAN :
  • Belongs to the SNF2/RAD54 helicase family.
Family:
  • Belongs to the SNF2/RAD54 helicase family.
genes like me logo Genes that share domains with BTAF1: view

No data available for Gene Families for BTAF1 Gene

Function for BTAF1 Gene

Molecular function for BTAF1 Gene

UniProtKB/Swiss-Prot Function:
Regulates transcription in association with TATA binding protein (TBP). Removes TBP from the TATA box in an ATP-dependent manner.

Enzyme Numbers (IUBMB) for BTAF1 Gene

Gene Ontology (GO) - Molecular Function for BTAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 9342322
GO:0004386 helicase activity IEA --
GO:0005515 protein binding IPI --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with BTAF1: view
genes like me logo Genes that share phenotypes with BTAF1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BTAF1 Gene

Localization for BTAF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BTAF1 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 BTAF1 gene
Compartment Confidence
nucleus 5
plasma membrane 3
peroxisome 1

Gene Ontology (GO) - Cellular Components for BTAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with BTAF1: view

Pathways & Interactions for BTAF1 Gene

genes like me logo Genes that share pathways with BTAF1: view

Pathways by source for BTAF1 Gene

1 Cell Signaling Technology pathway for BTAF1 Gene
1 BioSystems pathway for BTAF1 Gene

Gene Ontology (GO) - Biological Process for BTAF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035562 negative regulation of chromatin binding IMP 23361013
GO:0045892 negative regulation of transcription, DNA-templated NAS 9488487
genes like me logo Genes that share ontologies with BTAF1: view

No data available for SIGNOR curated interactions for BTAF1 Gene

Drugs & Compounds for BTAF1 Gene

(1) Drugs for BTAF1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with BTAF1: view

Transcripts for BTAF1 Gene

Unigene Clusters for BTAF1 Gene

BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for BTAF1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18a ·
SP1: - - -
SP2:
SP3: -
SP4:
SP5: -
SP6:
SP7:

ExUns: 18b ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40a · 40b
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for BTAF1 Gene

GeneLoc Exon Structure for
BTAF1
ECgene alternative splicing isoforms for
BTAF1

Expression for BTAF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BTAF1 Gene

Protein differential expression in normal tissues from HIPED for BTAF1 Gene

This gene is overexpressed in Serum (30.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BTAF1 Gene



Protein tissue co-expression partners for BTAF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BTAF1 Gene:

BTAF1

SOURCE GeneReport for Unigene cluster for BTAF1 Gene:

Hs.500526

Evidence on tissue expression from TISSUES for BTAF1 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with BTAF1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BTAF1 Gene

Orthologs for BTAF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BTAF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BTAF1 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia BTAF1 34 35
  • 94.54 (n)
oppossum
(Monodelphis domestica)
Mammalia BTAF1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BTAF1 34 35
  • 92.92 (n)
mouse
(Mus musculus)
Mammalia Btaf1 34 16 35
  • 91.45 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BTAF1 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Btaf1 34
  • 90.41 (n)
chicken
(Gallus gallus)
Aves BTAF1 34 35
  • 82.06 (n)
lizard
(Anolis carolinensis)
Reptilia BTAF1 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia btaf1 34
  • 74.8 (n)
Str.10370 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.3882 34
zebrafish
(Danio rerio)
Actinopterygii btaf1 34 34 35
  • 69.09 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10833 34
fruit fly
(Drosophila melanogaster)
Insecta Hel89B 36 34 35
  • 52.39 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001820 34
  • 50.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MOT1 34 35 37
  • 50.71 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E23717g 34
  • 49.79 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL256C 34
  • 48.41 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RGD3 34
  • 51.58 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.8874 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mot1 34
  • 52.61 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07556 34
  • 48.81 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10805 35
  • 42 (a)
OneToOne
Species where no ortholog for BTAF1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BTAF1 Gene

ENSEMBL:
Gene Tree for BTAF1 (if available)
TreeFam:
Gene Tree for BTAF1 (if available)

Paralogs for BTAF1 Gene

Paralogs for BTAF1 Gene

(6) SIMAP similar genes for BTAF1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with BTAF1: view

Variants for BTAF1 Gene

Sequence variations from dbSNP and Humsavar for BTAF1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000011689 -- 91,993,310(+) ACTAT(A/C)CCTTA intron-variant
rs1000081792 -- 91,947,363(+) TTTAT(C/T)GATTT intron-variant
rs1000194534 -- 92,010,660(+) GGGTC(A/G)TGCTC intron-variant
rs1000199282 -- 91,923,955(+) CCACG(C/T)CGCAC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000265610 -- 91,926,919(+) TCTCA(A/G)ACAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BTAF1 Gene

Variant ID Type Subtype PubMed ID
esv3422172 CNV insertion 20981092
esv3438803 CNV insertion 20981092
esv3624215 CNV loss 21293372
esv3624216 CNV loss 21293372

Variation tolerance for BTAF1 Gene

Residual Variation Intolerance Score: 1.04% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.24; 40.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BTAF1 Gene

Human Gene Mutation Database (HGMD)
BTAF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BTAF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BTAF1 Gene

Disorders for BTAF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BTAF1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy, familial temporal lobe, 1
  • familial temporal lobe epilepsy 1
- elite association - COSMIC cancer census association via MalaCards
Search BTAF1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BTAF1

Genetic Association Database (GAD)
BTAF1
Human Genome Epidemiology (HuGE) Navigator
BTAF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BTAF1
genes like me logo Genes that share disorders with BTAF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BTAF1 Gene

Publications for BTAF1 Gene

  1. Cloning and biochemical characterization of TAF-172, a human homolog of yeast Mot1. (PMID: 9488487) Chicca J.J. II … Pugh B.F. (Mol. Cell. Biol. 1998) 2 3 4 22 64
  2. Cloning of the cDNA for the TATA-binding protein-associated factorII170 subunit of transcription factor B-TFIID reveals homology to global transcription regulators in yeast and Drosophila. (PMID: 9342322) van der Knaap J.A. … Timmers H.T.M. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 22 64
  3. NC2alpha interacts with BTAF1 and stimulates its ATP-dependent association with TATA-binding protein. (PMID: 15509807) Klejman M.P. … Timmers H.T.M. (Mol. Cell. Biol. 2004) 3 4 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64

Products for BTAF1 Gene

Sources for BTAF1 Gene

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