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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BPTF Gene

protein-coding   GIFtS: 53
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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for BPTF

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Nucleus. Note=In brains of Alzheimer disease patients, present in a subset of
amyloid-containing plaques
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;
6/10 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:

  • UniProtKB: Phosphorylation enhances DNA-binding
  • UniProtKB: Highly susceptible to proteolysis
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12830

  • 2 DME Specific Peptides for BPTF (Q12830)
     EIRAFAE  EVQEELK 

    BPTF Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BPTF Protein Expression
    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  

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    Cloud-Clone Corp. Proteins for BPTF 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    BPTF for ontologies           About GeneDecksing



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    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)
    About This Section
    HGNC Gene Families: 
    PHF: Zinc fingers, PHD-type

    5/10 InterPro protein domains (see all 10):
     IPR004022 DDT_dom
     IPR019786 Zinc_finger_PHD-type_CS
     IPR001965 Znf_PHD
     IPR018359 Bromodomain_CS
     IPR001487 Bromodomain

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/6 molecular function terms (GO ID links to tree view) (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 

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

    BPTF for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for BPTF 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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 

    10/438 SABiosciences Target genes for BPTF (see all 438):
    A2M ABAT ABCF3 ACSL6 ADAM32 ADAMTSL1 ADCY1 ADCYAP1R1 AIP AKT3

    miRNA
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    8/77 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPTF

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

    5/45 Interacting proteins for BPTF (Q128301, 2, 3 ENSP000003072084) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    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:0006338chromatin remodeling IDA14609955
    GO:0006351transcription, DNA-dependent IMP14609955
    GO:0006355regulation of transcription, DNA-dependent IMP10575013

    BPTF for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BPTF

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/77 QIAGEN miScript miRNA 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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    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 

    24/26 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 

    24/321 AceView cDNA sequences (see all 321):

    Z38300 AA826415 AL711135 NM_004459 AA721144 AA648987 AI701519 BQ716886 
    CF143401 AI243695 AA425478 AJ277303 CB134194 AI242380 AI192751 NM_182641 
    BU181758 AA488659 AU186082 CB306914 BQ061478 CK822395 BG621459 CF143445 

    GeneLoc Exon Structure

    5/17 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BPTF expression in normal human tissues (normalized intensities)      BPTF embryonic expression: see
    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 
     5/3 selected tissues (see all 3) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Inner Cell Mass (Early Embryonic Tissues)
             Line H9 (WA09)
     
     Skeletal Muscle (Muscoskeletal System)
             gastrocnemius muscle   

    See BPTF Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BPTF

    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)

        SABiosciences Expression via Pathway-Focused PCR Array including BPTF: 
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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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)
    About This Section

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

    Orthologs for BPTF gene from 8/18 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 83.9(n)1
    84.01(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 73.55(n)
    73.15(a)
      100858895  XM_003642329.1  XP_003642377.1 
    lizard
    (Anolis carolinensis)
    Reptilia BPTF6
    Uncharacterized protein
    75(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)1 Enhancer of bithorax 45.93(n)
    37.06(a)
      44811  NM_001169834.1  NP_001163305.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nurf-16
    Nucleosome-remodeling factor subunit NURF301-like
    22(a)
    1 ↔ 1
    II(14390720-14407905)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GCN56
    Acetyltransferase, modifies N-terminal lysines on ...
    17(a)
    1 → many
    VII(996869-998188)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3375 SNPs in BPTF are shown (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

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    (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.)
    About This Section
    OMIM gene information: 601819    OMIM disorders: --

    8 diseases for BPTF:    About MalaCards
    typhus    alzheimer's disease    lateral sclerosis    amyotrophic lateral sclerosis
    lung adenocarcinoma    lung cancer    adenocarcinoma    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)
    About This Section

    PubMed articles for BPTF gene, integrated from 9 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. (2006)
    2. Identification and characterization of BPTF, a novel bromodomain transcription factor. (PubMed id 10662542)1, 2, 3 Jones M.H.... Shimane M. (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. (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. (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. (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. (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. (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. (2006)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2186 HGNC: 3581 AceView: FALZ Ensembl:ENSG00000171634 euGenes: HUgn2186
    ECgene: BPTF H-InvDB: BPTF

    (According to HUGE)
    About This Section
      --

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



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