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Aliases for BPTF Gene

Aliases for BPTF Gene

  • Bromodomain PHD Finger Transcription Factor 2 3
  • Fetal Alzheimer Antigen 2 3 4
  • FALZ 3 4 6
  • FAC1 3 4 6
  • Bromodomain And PHD Finger-Containing Transcription Factor 3 4
  • Fetal Alz-50 Clone 1 Protein 3 4
  • Bromodomain And PHD Domain Transcription Factor 3
  • Nucleosome Remodeling Factor, Large Subunit 3
  • Nucleosome-Remodeling Factor Subunit BPTF 3
  • Fetal Alz-50 Reactive Clone 1 3
  • EC 6.2.1.5 63
  • EC 3.6.1 63
  • NURF301 3

External Ids for BPTF Gene

Previous Symbols for BPTF Gene

  • FALZ

Summaries for BPTF Gene

Entrez Gene Summary for BPTF Gene

  • This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]

GeneCards Summary for BPTF Gene

BPTF (Bromodomain PHD Finger Transcription Factor) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding and DNA-dependent ATPase activity. An important paralog of this gene is KAT2A.

UniProtKB/Swiss-Prot for BPTF Gene

  • Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on Lys-4 (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors

Gene Wiki entry for BPTF Gene

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

Genomics for BPTF Gene

Genomic Location for BPTF Gene

Start:
67,825,524 bp from pter
End:
67,984,378 bp from pter
Size:
158,855 bases
Orientation:
Plus strand

Genomic View for BPTF Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BPTF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPTF Gene

Regulatory Elements for BPTF Gene

Proteins for BPTF Gene

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

    Protein Symbol:
    Q12830-BPTF_HUMAN
    Recommended name:
    Nucleosome-remodeling factor subunit BPTF
    Protein Accession:
    Q12830
    Secondary Accessions:
    • Q6NX67
    • Q7Z7D6
    • Q9UIG2

    Protein attributes for BPTF Gene

    Size:
    3046 amino acids
    Molecular mass:
    338262 Da
    Quaternary structure:
    • Interacts with MAZ. Interacts with KEAP1. Part of the nucleosome-remodeling factor (NURF) complex which consists of SMARCA1; BPTF; RBBP4 and RBBP7. Interacts with histone H3K4me3 and to a lesser extent with histone H3-K4Me2.
    SequenceCaution:
    • Sequence=AAA97522.1; Type=Frameshift; Positions=136, 915; Evidence={ECO:0000305}; Sequence=AAA97522.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors.; Evidence={ECO:0000305}; Sequence=BAA89208.1; Type=Miscellaneous discrepancy; Note=Several sequencing errors in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BPTF Gene

    Alternative splice isoforms for BPTF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BPTF Gene

Proteomics data for BPTF Gene at MOPED

Selected DME Specific Peptides for BPTF Gene

Post-translational modifications for BPTF Gene

Domains for BPTF Gene

Gene Families for BPTF Gene

HGNC:
  • PHF :Zinc fingers, PHD-type

Suggested Antigen Peptide Sequences for BPTF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q12830

UniProtKB/Swiss-Prot:

BPTF_HUMAN
Domain:
  • The second PHD-type zinc finger mediates binding to histone H3K4Me3. Has specificity for trimethyllysine; introducing a mutation in the Tyr-2876 residue can induce binding to dimethyllysine.:
    • Q12830
  • Contains 1 bromo domain.:
    • Q12830
  • Contains 1 DDT domain.:
    • Q12830
Family:
  • Belongs to the PBTF family.:
    • Q12830
Similarity:
  • Contains 2 PHD-type zinc fingers.:
    • Q12830
genes like me logo Genes that share domains with BPTF: view

Function for BPTF Gene

Molecular function for BPTF Gene

UniProtKB/Swiss-Prot Function: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on Lys-4 (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors

Enzyme Numbers (IUBMB) for BPTF Gene

Gene Ontology (GO) - Molecular Function for BPTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding --
GO:0005515 protein binding IPI 14609955
GO:0008094 contributes_to DNA-dependent ATPase activity IDA 14609955
GO:0008134 transcription factor binding IDA 10727212
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with BPTF: view
genes like me logo Genes that share phenotypes with BPTF: view

Animal Models for BPTF Gene

MGI Knock Outs for BPTF:

Transcription Factor Targeting for BPTF Gene

Selected GeneGlobe predicted Target genes for BPTF

No data available for HOMER Transcription for BPTF Gene

Localization for BPTF Gene

Subcellular locations from UniProtKB/Swiss-Prot for BPTF Gene

Cytoplasm. Nucleus. Note=In brains of Alzheimer disease patients, present in a subset of amyloid-containing plaques.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BPTF Gene COMPARTMENTS Subcellular localization image for BPTF gene
Compartment Confidence
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BPTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10403843
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus --
GO:0005737 cytoplasm IEA --
GO:0015630 microtubule cytoskeleton --
genes like me logo Genes that share ontologies with BPTF: view

Pathways for BPTF Gene

SuperPathways for BPTF Gene

No Data Available

Gene Ontology (GO) - Biological Process for BPTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10727212
GO:0001892 embryonic placenta development IEA --
GO:0006200 obsolete ATP catabolic process --
GO:0006338 chromatin remodeling IDA 14609955
GO:0006351 transcription, DNA-templated IMP 14609955
genes like me logo Genes that share ontologies with BPTF: view

No data available for Pathways by source for BPTF Gene

Transcripts for BPTF Gene

Unigene Clusters for BPTF Gene

Bromodomain PHD finger transcription factor:
Representative Sequences:

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

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^ 18a · 18b ^ 19 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: - -
SP15:
SP16:
SP17:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30a · 30b · 30c ^ 31a · 31b · 31c ^ 32 ^ 33a · 33b ^ 34a · 34b ^ 35 ^ 36 ^ 37a ·
SP1:
SP2: - - - -
SP3: -
SP4: - -
SP5: - - -
SP6: - - - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for BPTF Gene

GeneLoc Exon Structure for
BPTF
ECgene alternative splicing isoforms for
BPTF

Expression for BPTF Gene

mRNA expression in normal human tissues for BPTF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BPTF Gene

SOURCE GeneReport for Unigene cluster for BPTF Gene Hs.444200

mRNA Expression by UniProt/SwissProt for BPTF Gene

Q12830-BPTF_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels in testis. Present in kidney, liver and brain. In the brain, highest levels are found in motor cortex (at protein level).
genes like me logo Genes that share expressions with BPTF: view

No data available for mRNA differential expression in normal tissues for BPTF Gene

Orthologs for BPTF Gene

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

Orthologs for BPTF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BPTF 35
  • 99.34 (n)
  • 99.24 (a)
BPTF 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BPTF 35
  • 87.76 (n)
  • 87.94 (a)
BPTF 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BPTF 35
  • 90.7 (n)
  • 90.73 (a)
BPTF 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bptf 35
  • 82.48 (n)
  • 82.43 (a)
Bptf 16
Bptf 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BPTF 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPTF 36
  • 68 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bptf 35
  • 80.79 (n)
  • 79.9 (a)
chicken
(Gallus gallus)
Aves BPTF 35
  • 73.16 (n)
  • 72.14 (a)
BPTF 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BPTF 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15413 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7075 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.178 35
zebrafish
(Danio rerio)
Actinopterygii bptf 35
  • 62.02 (n)
  • 63.33 (a)
bptf 36
  • 54 (a)
OneToOne
wufb71f11 35
fruit fly
(Drosophila melanogaster)
Insecta E(bx) 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nurf-1 36
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN5 36
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
-- 36
  • 38 (a)
OneToMany
CSA.9778 36
  • 17 (a)
OneToMany
Species with no ortholog for BPTF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • 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 BPTF Gene

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

Paralogs for BPTF Gene

Paralogs for BPTF Gene

Pseudogenes.org Pseudogenes for BPTF Gene

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

Variants for BPTF Gene

Sequence variations from dbSNP and Humsavar for BPTF Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs7107 -- 67,983,025(-) ACTCA(C/T)TTTAG utr-variant-3-prime
rs10832 -- 67,982,735(-) AAATA(A/C)TTAGC utr-variant-3-prime, downstream-variant-500B
rs13300 -- 67,966,656(+) CTATG(G/T)ACCTT reference, missense
rs167532 -- 67,832,123(+) gacct(C/T)gtgat intron-variant
rs178338 -- 67,831,963(+) ctcgg(C/T)tcact intron-variant

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

Variant ID Type Subtype PubMed ID
nsv511059 CNV Complex 20534489
esv22926 CNV Gain 19812545
nsv436233 CNV Deletion 17901297
esv2716136 CNV Deletion 23290073
esv2664823 CNV Deletion 23128226
esv2659177 CNV Deletion 23128226
esv22750 CNV Gain 19812545
esv1429192 CNV Deletion 17803354
esv2678813 CNV Deletion 23128226
esv2716137 CNV Deletion 23290073

Relevant External Links for BPTF Gene

HapMap Linkage Disequilibrium report
BPTF

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

Disorders for BPTF Gene

(1) University of Copenhagen DISEASES for BPTF Gene

(4) Novoseek inferred disease relationships for BPTF Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 45.5 6
senile plaques 38.2 1
neurodegenerative diseases 30.5 3
neurodegeneration 26.2 2
genes like me logo Genes that share disorders with BPTF: view

No data available for UniProtKB/Swiss-Prot for BPTF Gene

Publications for BPTF Gene

  1. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. (PMID: 16728976) Wysocka J. … Allis C.D. (Nature 2006) 2 3 4
  2. FAC1, a novel gene identified with the monoclonal antibody Alz50, is developmentally regulated in human brain. (PMID: 7621746) Bowser R. … Davies P. (Dev. Neurosci. 1995) 3 4 23
  3. FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord. (PMID: 9225734) Mu X. … Bowser R. (Exp. Neurol. 1997) 3 4 23
  4. DNA binding activity of the fetal Alz-50 clone 1 (FAC1) protein is enhanced by phosphorylation. (PMID: 10403843) Jordan-Sciutto K.L. … Bowser R. (Biochem. Biophys. Res. Commun. 1999) 3 4 23
  5. Fetal Alz-50 clone 1, a novel zinc finger protein, binds a specific DNA sequence and acts as a transcriptional regulator. (PMID: 10575013) Jordan-Sciutto K.L. … Bowser R. (J. Biol. Chem. 1999) 3 4 23

Products for BPTF Gene

Sources for BPTF Gene

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