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Aliases for BPTF Gene

Aliases for BPTF Gene

  • Bromodomain PHD Finger Transcription Factor 2 3 5
  • Fetal Alzheimer Antigen 2 3 4
  • Bromodomain And PHD Finger-Containing Transcription Factor 3 4
  • Fetal Alz-50 Clone 1 Protein 3 4
  • FALZ 3 4
  • FAC1 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 61
  • EC 3.6.1 61
  • NURF301 3

External Ids for BPTF Gene

Previous HGNC Symbols for BPTF Gene

  • FALZ

Previous GeneCards Identifiers for BPTF Gene

  • GC17P063253
  • GC17P065821
  • GC17P061203

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. Diseases associated with BPTF include Alzheimer Disease. GO annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is BAZ1B.

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

Regulatory Elements for BPTF Gene

Enhancers for BPTF 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
GH17F067817 1.1 Ensembl ENCODE 7.8 -7.1 -7056 1.0 ATF1 PKNOX1 MTA2 JUNB ZNF384 TBX21 EP300 PBX2 SCRT2 CREB1 BPTF RPL17P41
GH17F068180 1 Ensembl ENCODE 5.1 +358.0 357977 6.5 TBP PKNOX1 ZNF133 FEZF1 ZBTB40 ZNF362 NFYA CBFB NFYC CEBPB LOC440461 ENSG00000267731 WIPI1 MIR635 BPTF AMZ2 ENSG00000278740 PIR57829
GH17F068168 0.2 ENCODE 4.6 +343.2 343151 0.2 NFYB NFYC WIPI1 MIR635 ENSG00000267731 BPTF LOC105371870 PIR57829
GH17F067824 0.7 FANTOM5 ENCODE 3.7 +0.6 605 3.7 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 LOC100418928 NOL11 FBXO36P1 ENSG00000264421 RPL36AP48 HELZ SH3GL1P3 ENSG00000267731 LINC00674 ENSG00000265055
GH17F068234 1.6 FANTOM5 Ensembl ENCODE 3.2 +412.1 412132 7.3 PKNOX1 ATF1 WRNIP1 ARID4B YY1 ZNF143 ZNF207 FOS NFYC MIER2 LOC440461 AMZ2 ARSG SLC16A6 BPTF GC17P068233 ENSG00000265100
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BPTF on UCSC Golden Path with GeneCards custom track

Promoters for BPTF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001537651 876 3601 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for BPTF Gene

Chromosome:
17
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

Genes around BPTF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence 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

Selected DME Specific Peptides for BPTF Gene

Post-translational modifications for BPTF Gene

Domains & Families for BPTF Gene

Gene Families for BPTF Gene

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 :
  • 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.
  • Belongs to the PBTF family.
  • Contains 2 PHD-type zinc fingers.
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.
  • Contains 1 bromo domain.
  • Contains 1 DDT domain.
Family:
  • Belongs to the PBTF family.
Similarity:
  • Contains 2 PHD-type zinc fingers.
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: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 --
GO:0043565 sequence-specific DNA binding IMP 10575013
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:

Animal Model Products

miRNA for BPTF Gene

Transcription Factor Targets for BPTF Gene

Selected GeneGlobe predicted Target genes for BPTF

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology and 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
extracellular 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BPTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 27141965
GO:0005634 nucleus IDA 10403843
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm TAS 7621746
GO:0016589 NURF complex IDA 20850016
genes like me logo Genes that share ontologies with BPTF: view

Pathways & Interactions 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:0006338 chromatin remodeling IDA 14609955
GO:0006351 transcription, DNA-templated IMP 14609955
GO:0006355 regulation of transcription, DNA-templated IMP 10575013
genes like me logo Genes that share ontologies with BPTF: view

No data available for Pathways by source and SIGNOR curated interactions for BPTF Gene

Transcripts for BPTF Gene

Unigene Clusters for BPTF Gene

Bromodomain PHD finger transcription factor:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for BPTF Gene

This gene is overexpressed in Plasma (26.4) and Stomach (13.9).

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



Protein tissue co-expression partners for BPTF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BPTF Gene:

BPTF

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 expression patterns with BPTF: view

Primer Products

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 34 35
  • 99.34 (n)
dog
(Canis familiaris)
Mammalia BPTF 34 35
  • 90.7 (n)
cow
(Bos Taurus)
Mammalia BPTF 34 35
  • 87.76 (n)
mouse
(Mus musculus)
Mammalia Bptf 34 16 35
  • 82.48 (n)
rat
(Rattus norvegicus)
Mammalia Bptf 34
  • 80.79 (n)
oppossum
(Monodelphis domestica)
Mammalia BPTF 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPTF 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves BPTF 34 35
  • 73.16 (n)
lizard
(Anolis carolinensis)
Reptilia BPTF 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7075 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15413 34
zebrafish
(Danio rerio)
Actinopterygii bptf 34 35
  • 62.02 (n)
wufb71f11 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.178 34
fruit fly
(Drosophila melanogaster)
Insecta E(bx) 35
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nurf-1 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN5 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 38 (a)
OneToMany
-- 35
  • 36 (a)
OneToMany
CSA.9778 35
  • 17 (a)
OneToMany
Species where no ortholog for BPTF was found in the sources mined by GeneCards:
  • 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

Variants for BPTF Gene

Sequence variations from dbSNP and Humsavar for BPTF Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs10048180 -- 67,984,519(+) TTTAA(C/T)GGTAT downstream-variant-500B
rs10445361 -- 67,966,122(+) CATAA(G/T)CAGAA intron-variant
rs10569005 -- 67,949,652(+) ATATA(-/TA)CACAC intron-variant
rs10583750 -- 67,876,821(+) AAAAA(A/G)AGAAA intron-variant
rs10598085 -- 67,932,960(+) AAGGT(-/AAA)AAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv5754n54 CNV gain 21841781
esv1429192 CNV deletion 17803354
esv22750 CNV gain 19812545
esv22926 CNV gain 19812545
esv2659177 CNV deletion 23128226
esv2664823 CNV deletion 23128226
esv2678813 CNV deletion 23128226
esv2716136 CNV deletion 23290073
esv3554686 CNV deletion 23714750
esv3641102 CNV gain 21293372
esv3641103 CNV gain 21293372
esv3641104 CNV loss 21293372
esv3641105 CNV loss 21293372
esv3893038 CNV loss 25118596
esv3893039 CNV loss 25118596
nsv1066511 CNV gain 25217958
nsv1118766 CNV deletion 24896259
nsv1120054 OTHER inversion 24896259
nsv436233 CNV deletion 17901297
nsv511059 OTHER complex 20534489
nsv575915 CNV gain 21841781
nsv575916 CNV loss 21841781
nsv575917 CNV gain 21841781
nsv960141 CNV duplication 23825009
nsv960142 CNV duplication 23825009
nsv960143 CNV duplication 23825009
nsv962364 CNV duplication 23825009
nsv978457 CNV duplication 23825009

Variation tolerance for BPTF Gene

Residual Variation Intolerance Score: 0.253% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BPTF Gene

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

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

Disorders for BPTF Gene

MalaCards: The human disease database

(1) MalaCards diseases for BPTF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alzheimer disease
  • alzheimer disease, late-onset
- elite association - COSMIC cancer census association via MalaCards
Search BPTF in MalaCards View complete list of genes associated with diseases

Relevant External Links for BPTF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BPTF
genes like me logo Genes that share disorders with BPTF: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 64
  2. Fetal Alz-50 clone 1 interacts with the human orthologue of the Kelch-like Ech-associated protein. (PMID: 15379550) Strachan G.D. … Jordan-Sciutto K.L. (Biochemistry 2004) 3 4 22 64
  3. Identification and characterization of BPTF, a novel bromodomain transcription factor. (PMID: 10662542) Jones M.H. … Shimane M. (Genomics 2000) 2 3 4 64
  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 22 64
  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 22 64

Products for BPTF Gene

Sources for BPTF Gene

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