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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
  • 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
  • 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 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 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

Regulatory Elements for BPTF Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

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

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 & 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

  • Predesigned siRNA for gene silencing in human,mouse,rat for BPTF

In Situ Assay Products

Flow Cytometry Products

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
extracellular 5
nucleus 5

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:0005737 cytoplasm IEA --
GO:0016589 NURF complex IDA 20850016
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with BPTF: view

Pathways & Interactions for BPTF Gene

SuperPathways for BPTF Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays
    • Epigenetic Chromatin Remodeling Factors in human,mouse,rat

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

Drugs & Compounds for BPTF Gene

No Compound Related Data Available

Transcripts for BPTF Gene

Unigene Clusters for BPTF Gene

Bromodomain PHD finger transcription factor:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BPTF

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, 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 expression patterns with BPTF: view

Protein tissue co-expression partners for BPTF Gene

- Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay 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
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
chimpanzee
(Pan troglodytes)
Mammalia BPTF 35
  • 99.34 (n)
  • 99.24 (a)
BPTF 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bptf 35
  • 80.79 (n)
  • 79.9 (a)
oppossum
(Monodelphis domestica)
Mammalia BPTF 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPTF 36
  • 68 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7075 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.15413 35
zebrafish
(Danio rerio)
Actinopterygii bptf 35
  • 62.02 (n)
  • 63.33 (a)
wufb71f11 35
bptf 36
  • 54 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.178 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
rs167532 -- 67,832,123(+) gacct(C/T)gtgat intron-variant
rs178338 -- 67,831,963(+) ctcgg(C/T)tcact intron-variant
rs188772 -- 67,832,038(+) gcgcc(C/T)gccac 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

Variation tolerance for BPTF Gene

Residual Variation Intolerance Score: .25% 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

HapMap Linkage Disequilibrium report
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
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. The cAMP signaling pathway in Fusarium verticillioides is important for conidiation, plant infection, and stress responses but not fumonisin production. (PMID: 20192838) Choi Y.E. … Xu J.R. (Mol. Plant Microbe Interact. 2010) 23 67
  2. A novel translocation breakpoint within the BPTF gene is associated with a pre-malignant phenotype. (PMID: 20300178) Buganim Y. … Rotter V. (PLoS ONE 2010) 23 67
  3. Arabidopsis ING and Alfin1-like protein families localize to the nucleus and bind to H3K4me3/2 via plant homeodomain fingers. (PMID: 19154204) Lee W.Y. … Kwon C.S. (Plant J. 2009) 23 67
  4. Alternative splicing of NURF301 generates distinct NURF chromatin remodeling complexes with altered modified histone binding specificities. (PMID: 19629165) Kwon S.Y. … Badenhorst P. (PLoS Genet. 2009) 23 67
  5. Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression. (PMID: 17687328) Lan F. … Shi Y. (Nature 2007) 23 67

Products for BPTF Gene

Sources for BPTF Gene

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