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BPTF Gene

protein-coding   GIFtS: 54
GCID: GC17P065821

Bromodomain PHD Finger Transcription Factor

(Previous name: fetal Alzheimer antigen)
(Previous symbol: FALZ)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bromodomain PHD Finger Transcription Factor1 2     Bromodomain And PHD Domain Transcription Factor2
FALZ1 2 3 5     Fetal Alz-50 Reactive Clone 12
Fetal Alzheimer Antigen1 2 3     Nucleosome Remodeling Factor, Large Subunit2
FAC12 3 5     Nucleosome-Remodeling Factor Subunit BPTF2
Bromodomain And PHD Finger-Containing Transcription Factor2 3     EC 3.6.18
Fetal Alz-50 Clone 1 Protein2 3     EC 6.2.1.58
NURF3012     

External Ids:    HGNC: 35811   Entrez Gene: 21862   Ensembl: ENSG000001716347   OMIM: 6018195   UniProtKB: Q128303   

Export aliases for BPTF gene to outside databases

Previous GC identifers: GC17P063253 GC17P061203


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 typhus, and alzheimer's disease. GO annotations related to this gene include DNA-dependent ATPase activity and sequence-specific DNA binding. An important paralog of this gene is BAZ1A.

UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830
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

Gene Wiki entry for BPTF Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BPTF gene promoter:
         Pax-5   Tal-1   Lmo2   MyoD   E47   Max   N-Myc   FOXO1a   c-Myc   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBPTF promoter sequence
   Search Chromatin IP Primers for BPTF

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPTF


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.3   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24

BPTF Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPTF gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P065821:  view genomic region     (about GC identifiers)

Start:
65,821,640 bp from pter      End:
65,980,494 bp from pter
Size:
158,855 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830 (See protein sequence)
Recommended Name: Nucleosome-remodeling factor subunit BPTF  
Size: 3046 amino acids; 338262 Da
Subunit: 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
Developmental stage: Abundantly expressed in the fetal brain. Present throughout the gray and white matter of the
developing spinal cord at 18-22 gestational weeks. Expressed at low levels in adult brain and spinal cord and
reexpressed in neurodegenerative diseases (at protein level)
Sequence caution: Sequence=AAA97522.1; Type=Frameshift; Positions=136, 915; Sequence=AAA97522.1;
Type=Miscellaneous discrepancy; Note=Several sequencing errors; Sequence=BAA89208.1; Type=Miscellaneous
discrepancy; Note=Several sequencing errors in the N-terminal part;
Selected PDB 3D structures from and Proteopedia for BPTF (see all 10):
2F6J (3D)        2F6N (3D)        2FSA (3D)        2FUI (3D)        2FUU (3D)        2RI7 (3D)    
Secondary accessions: Q6NX67 Q7Z7D6 Q9UIG2
Alternative splicing: 3 isoforms:  Q12830-1   Q12830-2   Q12830-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BPTF: NX_Q12830

Explore proteomics data for BPTF at MOPED

Post-translational modifications: 

  • Phosphorylation enhances DNA-binding1
  • Highly susceptible to proteolysis1
  • Ubiquitination2 at Lys1844, Lys1949
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for BPTF (Q12830)
     EIRAFAE  EVQEELK 


    See BPTF Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004450.3  NP_872579.2  

    ENSEMBL proteins: 
     ENSP00000440854   ENSP00000307208   ENSP00000388405   ENSP00000443949   ENSP00000463776  
     ENSP00000462535   ENSP00000343837   ENSP00000463845   ENSP00000463736   ENSP00000462703  
     ENSP00000315454   ENSP00000334351  

    BPTF Human Recombinant Protein Products:

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BPTF

    BPTF Antibody Products:

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    Novus Biologicals BPTF Antibodies
    Abcam antibodies for BPTF
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    ThermoFisher Antibodies for BPTF
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    BPTF Assay Products:

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    GenScript Custom Assay Services for BPTF
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BPTF
    Cloud-Clone Corp. CLIAs for BPTF


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PHF: Zinc fingers, PHD-type

    Selected InterPro protein domains (see all 11):
     IPR001965 Znf_PHD
     IPR028865 BPTF_chordates
     IPR018501 DDT_dom_superfamily
     IPR013083 Znf_RING/FYVE/PHD
     IPR004022 DDT_dom

    Graphical View of Domain Structure for InterPro Entry Q12830

    ProtoNet protein and cluster: Q12830

    3 Blocks protein domains:
    IPB001487 Bromodomain signature
    IPB001965 Zn-finger-like
    IPB004022 DDT domain


    UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830
    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
    Similarity: Belongs to the PBTF family
    Similarity: Contains 1 bromo domain
    Similarity: Contains 1 DDT domain
    Similarity: Contains 2 PHD-type zinc fingers


    BPTF for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BPTF_HUMAN, Q12830
    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): EC 3.6.12 EC 6.2.1.52

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding ----
    GO:0005515protein binding IPI14609955
    GO:0008094contributes to DNA-dependent ATPase activity IDA14609955
    GO:0008134transcription factor binding IDA10727212
    GO:0008270zinc ion binding IEA--
         
    BPTF for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BPTF:
     Decreased viability of wild-ty  Increased cell death in HCT116 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Bptf):
     cellular  embryogenesis  growth/size/body  mortality/aging  no phenotypic analysis 

    BPTF for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Bptftm1.2Cwu for BPTF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BPTF
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BPTF

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BPTF
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BPTF

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for BPTF (see all 427):
    A2M,  ABAT,  ABCF3,  ACSL6,  ADAM32,  ADAMTSL1,  ADCY1,  ADCYAP1R1,  AIP,  AKT3

    miRNA
    Products:
        
    miRTarBase miRNAs that target BPTF:
    hsa-let-7a-5p (MIRT052582), hsa-mir-25-3p (MIRT050239), hsa-mir-335-5p (MIRT018571), hsa-mir-181b-5p (MIRT047286), hsa-mir-342-3p (MIRT043685), hsa-mir-455-3p (MIRT037859), hsa-mir-222-3p (MIRT046732), hsa-mir-33b-5p (MIRT039578), hsa-let-7c-5p (MIRT051824), hsa-mir-877-3p (MIRT036935), hsa-mir-378a-3p (MIRT043889), hsa-mir-204-5p (MIRT047009)

    Block miRNA regulation of human, mouse, rat BPTF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BPTF (see all 77):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-376b hsa-miR-15a hsa-miR-578 hsa-miR-3622b-3p hsa-miR-149 hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidBPTF 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BPTF
    Predesigned siRNA for gene silencing in human, mouse, rat BPTF

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for BPTF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BPTF (NM_182641)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BPTF
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BPTF

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for BPTF 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPTF


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BPTF_HUMAN, Q12830: Cytoplasm. Nucleus. Note=In brains of Alzheimer disease patients, present in a subset of
    amyloid-containing plaques
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0015630microtubule cytoskeleton IDA--
    GO:0016589NURF complex IDA--

    BPTF for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including BPTF: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for BPTF

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BPTF (Q128301, 2, 3 ENSP000003072084) via UniProtKB, MINT, STRING, and/or I2D (see all 154)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H3AP684313, ENSP000003502754I2D: score=1 STRING: ENSP00000350275
    HIST1H3BP684313I2D: score=1 
    HIST1H3CP684313I2D: score=1 
    HIST1H3DP684313I2D: score=1 
    HIST1H3EP684313I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA10727212
    GO:0001892embryonic placenta development IEA--
    GO:0006200ATP catabolic process IDA14609955
    GO:0006338chromatin remodeling IDA14609955
    GO:0006351transcription, DNA-templated IMP14609955

    BPTF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BPTF



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BPTF gene (2 alternative transcripts): 
    NM_004459.6  NM_182641.3  

    Unigene Cluster for BPTF:

    Bromodomain PHD finger transcription factor
    Hs.444200  [show with all ESTs]
    Unigene Representative Sequence: NM_182641
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000544778(uc010wqm.1) ENST00000306378(uc021uca.1) ENST00000424123
    ENST00000544491 ENST00000579173 ENST00000467104 ENST00000582467 ENST00000577770
    ENST00000584931 ENST00000580465 ENST00000342579(uc002jgg.3) ENST00000582406
    ENST00000581258(uc002jgh.3) ENST00000583990 ENST00000578307 ENST00000577837
    ENST00000321892(uc002jgf.3) ENST00000335221(uc002jge.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat BPTF using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BPTF (see all 77):
    hsa-miR-323-3p hsa-miR-607 hsa-miR-376b hsa-miR-15a hsa-miR-578 hsa-miR-3622b-3p hsa-miR-149 hsa-miR-376c
    SwitchGear 3'UTR luciferase reporter plasmidBPTF 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat BPTF
    Clone
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    OriGene clones in human, mouse for BPTF (see all 9)
    OriGene ORF clones in mouse, rat for BPTF
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BPTF (NM_182641)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BPTF
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BPTF
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat BPTF
      QuantiFast Probe-based Assays in human, mouse, rat BPTF

    Additional mRNA sequence: 

    AB032251.1 AK022081.1 AK022570.1 AK025776.1 AK027184.1 AK130939.1 AK293224.1 AK296256.1 
    AK297281.1 AL833375.1 AY282495.1 BC037422.1 BC039881.1 BC050566.1 BC067234.1 U05237.1 

    Selected DOTS entries (see all 26):

    DT.95243430  DT.91724433  DT.448935  DT.100788735  DT.101955708  DT.120975918  DT.65286935  DT.86840958 
    DT.97803565  DT.100788733  DT.100788741  DT.95243429  DT.95243435  DT.97798817  DT.40126827  DT.75142152 
    DT.92054365  DT.92398399  DT.95243428  DT.100788740  DT.120975801  DT.120975818  DT.40294331  DT.437315 

    Selected AceView cDNA sequences (see all 321):

    M85386 AA480961 BM992191 BQ021222 AA252844 AK022570 BU183985 AW015054 
    CK822394 T29631 CF135453 BM835394 AA169449 AA948169 BX093326 BQ717925 
    BQ718666 AA236286 CF135401 BM713520 AW516959 BU162932 AI078762 AI825312 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BPTF (see all 17)    About this scheme

    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:                                                                                                                                                            

    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:                                                              -                                         -     -                                             


    ECgene alternative splicing isoforms for BPTF

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BPTF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    BPTF Expression
    About this image


    BPTF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
    BPTF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPTF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444200

    UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830
    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)

        Pathway & Disease-focused RT2 Profiler PCR Array including BPTF: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BPTF gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bptf1 , 5 bromodomain PHD finger transcription factor1, 5 82.48(n)1
    82.43(a)1
      11 (70.11 cM)5
    2071651  NM_176850.21  NP_789820.21 
     1070330835 
    chicken
    (Gallus gallus)
    Aves BPTF1 bromodomain PHD finger transcription factor 73.16(n)
    72.14(a)
      100858895  XM_004946208.1  XP_004946265.1 
    lizard
    (Anolis carolinensis)
    Reptilia BPTF6
    bromodomain PHD finger transcription factor
    76(a)
    1 ↔ 1
    GL343250.1(995110-1081163)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154132 Xenopus laevis transcribed sequence with weak similarity more 79.46(n)    BU913184.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb71f112 wufb71f11 75(n)   322719  CA475061.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta E(bx)6
    Enhancer of bithorax
    28(a)
    1 ↔ 1
    3L(233926-246912)
    worm
    (Caenorhabditis elegans)
    Secernentea nurf-16
    Protein NURF-1, isoform a
    25(a)
    1 ↔ 1
    II(14390720-14407905) WBGene00009180
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCN56
    Acetyltransferase, modifies N-terminal lysines on ...
    20(a)
    1 → many
    VII(996869-998188) YGR252W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BPTF gene
    BAZ1A2  BAZ2B2  CECR22  BAZ2A2  BAZ1B2  KAT2A2  KAT2B2  
    6 SIMAP similar genes for BPTF using alignment to 11 protein entries:     BPTF_HUMAN (see all proteins):
    AIRE    PHF8    PHF12    BRDT    KAT2A    BRD4

    BPTF for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for BPTF
    PGOHUM00000237021 PGOHUM00000237150 PGOHUM00000237361


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BPTF (see all 3375)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1139951101,2
    F--65819830(+) GGCAAT/CTAGTG 2 -- us2k11Minor allele frequency- C:0.05WA 118
    rs1117665051,2
    C--65820005(+) CTGCAA/GCCTCC 2 -- us2k10--------
    rs1394868441,2
    --65820068(+) TACAGA/GCACGC 2 -- us2k10--------
    rs1180592191,2
    C,F--65820107(+) TTTAGT/CACAGA 2 -- us2k11Minor allele frequency- C:0.03EA 120
    rs21101121,2
    C,A,H--65820180(+) GCCCTC/GGTGAT 2 -- us2k18Minor allele frequency- G:0.06NA WA CSA 16
    rs1920779951,2
    C--65820215(+) GCTGGA/GATTAC 2 -- us2k10--------
    rs1462599761,2
    --65820243(+) CCCAGC/TATCTT 2 -- us2k10--------
    rs1845872281,2
    --65820253(+) TTTTTA/TAAAAA 2 -- us2k10--------
    rs1394508201,2
    --65820321(+) CTCACC/TGCAAC 2 -- us2k10--------
    rs1878115651,2
    --65820398(+) ACCACC/TATGCC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for BPTF (65821640 - 65980494 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for BPTF:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436233CNV Deletion17901297
    esv1429192CNV Deletion17803354
    esv2716137CNV Deletion23290073
    esv2678813CNV Deletion23128226
    esv2659177CNV Deletion23128226
    esv2664823CNV Deletion23128226
    esv2716136CNV Deletion23290073
    esv22926CNV Gain19812545
    esv22750CNV Gain19812545
    nsv511059CNV Complex20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BPTF
    DNA2.0 Custom Variant and Variant Library Synthesis for BPTF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601819    OMIM disorders: --

    10 diseases for BPTF:    
    About MalaCards
    typhus    alzheimer's disease    lung cancer susceptibility    lateral sclerosis
    amyotrophic lateral sclerosis    lung adenocarcinoma    adenocarcinoma    lung cancer
    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for BPTF:
    Typhus

    BPTF for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for BPTF gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alzheimers disease 45.5 6 9821166 (2), 8786404 (1), 9792236 (1), 10403843 (1) (see all 5)
    senile plaques 38.2 1 8786404 (1)
    neurodegenerative diseases 30.5 3 16137655 (1), 15379550 (1), 9378851 (1)
    neurodegeneration 26.2 3 11640947 (1), 10575013 (1)


    Export disorders for BPTF gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BPTF gene, integrated from 10 sources (see all 65):
    (articles sorted by number of sources associating them with BPTF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A PHD finger of NURF couples histone H3 lysine 4 trimethylation with chromatin remodelling. (PubMed id 16728976)1, 2, 3 Wysocka J.... Allis C.D. (Nature 2006)
    2. Identification and characterization of BPTF, a novel bromodomain transcription factor. (PubMed id 10662542)1, 2, 3 Jones M.H.... Shimane M. (Genomics 2000)
    3. DNA binding activity of the fetal Alz-50 clone 1 (FAC1) protein is enhanced by phosphorylation. (PubMed id 10403843)1, 2, 9 Jordan-Sciutto K.L.... Bowser R. (Biochem. Biophys. Res. Commun. 1999)
    4. Fetal Alz-50 clone 1, a novel zinc finger protein, binds a specific DNA sequence and acts as a transcriptional regulator. (PubMed id 10575013)1, 2, 9 Jordan-Sciutto K.L.... Bowser R. (J. Biol. Chem. 1999)
    5. FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord. (PubMed id 9225734)1, 2, 9 Mu X.... Bowser R. (Exp. Neurol. 1997)
    6. Fetal Alz-50 clone 1 interacts with the human orthologue of the Kelch-like Ech-associated protein. (PubMed id 15379550)1, 2, 9 Strachan G.D.... Jordan-Sciutto K.L. (Biochemistry 2004)
    7. FAC1, a novel gene identified with the monoclonal antibody Alz50, is developmentally regulated in human brain. (PubMed id 7621746)1, 2, 9 Bowser R.... Davies P. (Dev. Neurosci. 1995)
    8. Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF. (PubMed id 16728978)1, 2 Li H....Patel D.J. (Nature 2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2186 HGNC: 3581 AceView: FALZ Ensembl:ENSG00000171634 euGenes: HUgn2186
    ECgene: BPTF H-InvDB: BPTF

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BPTF Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BPTF gene:
    Search GeneIP for patents involving BPTF

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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