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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
  • NURF301 3
  • NEDDFL 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 Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and transcription factor binding. An important paralog of this gene is KAT2B.

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

Additional gene information for BPTF Gene

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

Genomics for BPTF Gene

GeneHancer (GH) Regulatory Elements for BPTF Gene

Promoters and enhancers for BPTF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J067824 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 734.1 +0.6 610 3.7 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF548 ZNF263 SP3 BPTF HELZ NOL11 ENSG00000267731 SH3GL1P3 FBXO36P1 RPL36AP48 ENSG00000264421 LOC100418928 LINC00674
GH17J068508 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 67.8 +686.8 686828 6.9 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF548 SP3 PRKAR1A NOL11 BPTF FBXO36P1 ABCA9 ABCA10 SNRPGP4 LOC100418928 ENSG00000267731 WIPI1
GH17J067438 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 77.4 -383.7 -383746 6.4 PKNOX1 FOXA2 ZFP64 MZF1 ZNF121 ZNF213 ZNF138 RCOR1 FOS RUNX3 NOL11 HELZ BPTF MIR548D2 MIR548AA2 PITPNC1 ENSG00000267731 SLC16A6 RN7SL756P ENSG00000201547
GH17J067992 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 39 +169.3 169270 4.5 CLOCK ZFP64 YBX1 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 ZNF610 C17orf58 NOL11 HELZ BPTF LRRC37A16P ENSG00000267731 ENSG00000265100 WIPI1 ARHGAP27P2 AMZ2
GH17J067364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 40.6 -459.8 -459765 3.1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN KDM1A PSMD12 PITPNC1 BPTF HELZ ENSG00000267731 NOL11 ENSG00000264421 RPL36AP48 FBXO36P1 GC17M067328
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BPTF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BPTF gene promoter:
  • MyoD
  • Lmo2
  • N-Myc
  • E47
  • Tal-1
  • Pax-5
  • FOXO1
  • FOXO1a
  • c-Myc
  • Max

Genomic Locations for BPTF Gene

Genomic Locations for BPTF Gene
chr17:67,825,524-67,984,378
(GRCh38/hg38)
Size:
158,855 bases
Orientation:
Plus strand
chr17:65,821,640-65,980,494
(GRCh37/hg19)
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

Post-translational modifications for BPTF Gene

No data available for DME Specific Peptides 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.
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.
Family:
  • Belongs to the PBTF family.
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.

Phenotypes From GWAS Catalog 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:0035064 methylated histone 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:
  • Bptf Bptf<tm1.2Cwu>

Animal Model Products

miRNA for BPTF Gene

miRTarBase miRNAs that target BPTF

Transcription Factor Targets for BPTF Gene

Selected GeneGlobe predicted Target genes for BPTF

Clone Products

  • Addgene plasmids for BPTF

No data available for Enzyme Numbers (IUBMB) , 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
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 BPTF gene
Compartment Confidence
extracellular 5
nucleus 5
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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

SuperPathway Contained pathways
1 Mesodermal Commitment Pathway
genes like me logo Genes that share pathways with BPTF: view

Pathways by source for BPTF Gene

1 BioSystems pathway for BPTF Gene

Gene Ontology (GO) - Biological Process for BPTF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10727212
GO:0001892 embryonic placenta development IEA --
GO:0006325 chromatin organization IEA --
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 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:

Clone Products

  • Addgene plasmids for BPTF

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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).

Evidence on tissue expression from TISSUES for BPTF Gene

  • Nervous system(4.8)
  • Kidney(4.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with BPTF: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BPTF 34 33
  • 90.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BPTF 34 33
  • 87.76 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Bptf 16 34 33
  • 82.48 (n)
rat
(Rattus norvegicus)
Mammalia Bptf 33
  • 80.79 (n)
oppossum
(Monodelphis domestica)
Mammalia BPTF 34
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BPTF 34
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves BPTF 34 33
  • 73.16 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BPTF 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7075 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.15413 33
zebrafish
(Danio rerio)
Actinopterygii bptf 34 33
  • 62.02 (n)
OneToOne
wufb71f11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.178 33
fruit fly
(Drosophila melanogaster)
Insecta E(bx) 34
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea nurf-1 34
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GCN5 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 38 (a)
OneToMany
-- 34
  • 36 (a)
OneToMany
CSA.9778 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BPTF: view image

Paralogs for BPTF Gene

Paralogs for BPTF Gene

(6) SIMAP similar genes for BPTF Gene using alignment to 11 proteins:

  • BPTF_HUMAN
  • E7ETD6_HUMAN
  • E9PE19_HUMAN
  • F5GXF5_HUMAN
  • F5H176_HUMAN
  • J3KSK9_HUMAN
  • J3KSY0_HUMAN
  • J3QLW4_HUMAN
  • J3QQK4_HUMAN
  • J3QQQ8_HUMAN
  • Q86TN2_HUMAN
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 Variation AA Info Type
rs782736894 pathogenic, likely-pathogenic, NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES, Expressive language delay, Global developmental delay, Postnatal microcephaly 67,975,841(+) T/C/G coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs1057518354 uncertain-significance, not specified 67,964,210(+) A/G genic_downstream_transcript_variant, splice_acceptor_variant
rs1000006840 -- 67,879,125(+) G/T genic_upstream_transcript_variant, intron_variant
rs1000010057 -- 67,968,140(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000064370 -- 67,899,752(+) G/A intron_variant

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

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

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)

Additional Variant Information for BPTF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for BPTF Gene

MalaCards: The human disease database

(8) MalaCards diseases for BPTF Gene - From: HGMD, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search BPTF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 CD (Nature 2006) 2 3 4 58
  2. Fetal Alz-50 clone 1 interacts with the human orthologue of the Kelch-like Ech-associated protein. (PMID: 15379550) Strachan GD … Jordan-Sciutto KL (Biochemistry 2004) 3 4 22 58
  3. Identification and characterization of BPTF, a novel bromodomain transcription factor. (PMID: 10662542) Jones MH … Shimane M (Genomics 2000) 2 3 4 58
  4. DNA binding activity of the fetal Alz-50 clone 1 (FAC1) protein is enhanced by phosphorylation. (PMID: 10403843) Jordan-Sciutto KL … Bowser R (Biochemical and biophysical research communications 1999) 3 4 22 58
  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 KL … Bowser R (The Journal of biological chemistry 1999) 3 4 22 58

Products for BPTF Gene

  • Addgene plasmids for BPTF

Sources for BPTF Gene

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