BPTF Gene
protein-coding GIFtS: 51
GCID: GC17P065821
|
|
bromodomain PHD finger transcription factor(Previous name: fetal Alzheimer antigen ) (Previous symbol: FALZ)
| |
Aliases for BPTF gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Bromodomain PHD Finger Transcription Factor1 2 | | Bromodomain And PHD Domain Transcription Factor2 | | FAC11 2 3 5 | | Fetal Alz-50 Reactive Clone 12 | | FALZ1 2 3 5 | | Nucleosome Remodeling Factor, Large Subunit2 | | Fetal Alzheimer Antigen1 2 3 | | Nucleosome-Remodeling Factor Subunit BPTF2 | | NURF3011 2 | | EC 3.6.18 | | Bromodomain And PHD Finger-Containing Transcription Factor2 3 | | EC 6.2.1.58 | | Fetal Alz-50 Clone 1 Protein2 3 | | |
Export aliases for BPTF gene to outside databasesPrevious GC identifers: GC17P063253 GC17P061203 |
Summaries for BPTF gene(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: This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brainhomogenates 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 mightplay a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients withneurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and italso 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 withsequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Twoalternative transcripts encoding different isoforms have been described completely. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830Function: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependentnucleosome 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 transcriptionthrough direct binding to DNA or transcription factors Gene Wiki entry for BPTF
|
Genomic Views 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000017.10 NC_018928.1 NT_010783.15
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
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: 17q24BPTF Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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:
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65,980,494 bp from pter |
Size:
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158,855 bases |
Orientation:
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plus strand |
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Proteins for BPTF gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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 whichconsists of SMARCA1; BPTF; RBBP4 and RBBP7. Interacts with histone H3K4me3 and to a lesser extent with histoneH3-K4Me2
Subcellular location: Cytoplasm. Nucleus. Note=In brains of Alzheimer disease patients, present in a subset ofamyloid-containing plaques
Developmental stage: Abundantly expressed in the fetal brain. Present throughout the gray and white matter of thedeveloping spinal cord at 18-22 gestational weeks. Expressed at low levels in adult brain and spinal cord andreexpressed in neurodegenerative diseases (at protein level)
Sequence caution: Sequence=AAA97522.1; Type=Frameshift; Positions=136, 915; Sequence=AAA97522.1; Type=Miscellaneousdiscrepancy; Note=Several sequencing errors; Sequence=BAA89208.1; Type=Miscellaneous discrepancy; Note=Severalsequencing 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 Q9UIG2Alternative 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
Post-translational modifications:
Phosphorylation enhances DNA-binding1
Highly susceptible to proteolysis1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q12830 2 DME Specific Peptides for BPTF (Q12830)
BPTF Protein expression data from MOPED and PaxDb: About this image 
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 Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
BPTF for ontologies About GeneDecksing
BPTF Antibody Products: Assay Products for BPTF: |
Protein
Domains / Families for BPTF gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BPTF for domains About GeneDecksing
5/10 InterPro domains/families (see all 10):Graphical View of Domain Structure for InterPro Entry Q12830ProtoNet protein and cluster: Q12830 3 Blocks protein families: IPB001487 Bromodomain signature IPB001965 Zn-finger-like IPB004022 DDT domain
UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830Domain: 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 dimethyllysineSimilarity: Belongs to the PBTF familySimilarity: Contains 1 bromo domainSimilarity: Contains 1 DDT domainSimilarity: Contains 2 PHD-type zinc fingers |
Function for BPTF gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: BPTF_HUMAN, Q12830Function: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependentnucleosome 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 transcriptionthrough direct binding to DNA or transcription factorsEnzyme Numbers (IUBMB): EC 3.6.12 EC 6.2.1.52
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BPTF (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BPTF (see all 2) 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  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPTF |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
BPTF for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for BPTF: Animal Models: Mouse knock-out Bptftm1.2Cwu for BPTF 4 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Bptf):
BPTF for phenotypes About GeneDecksing
|
Pathways & Interactions for BPTF gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 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)About this table
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table
BPTF for ontologies About GeneDecksing
|
Drugs & Compounds for BPTF gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for BPTF Search CenterWatch for drugs/clinical trials and news about BPTF 
|
Transcripts for BPTF gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
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,
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_18264118 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)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for BPTF (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for BPTF (see all 2) 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  |
Additional cDNA 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): BM458331 BQ061478 AI078762 CB134194 CF143401 NM_182641 NM_004459 BE464864 AI094217 BG621459 AI479002 BU507358 AI186130 BU169920 BU176205 AA488659 CF143445 AA279991 AI242380 Z38300 AI650915 AU186082 BM703035 BM714540 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
|
Expression for BPTF gene
(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) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image 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, Q12830Tissue specificity: Ubiquitously expressed, with highest levels in testis. Present in kidney, liver and brain. In thebrain, 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 |
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BPTF Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat BPTF | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BPTF | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BPTF | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPTF |
Orthologs for BPTF gene
(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 eukaryotes.
Orthologs for BPTF gene from 8/27 species (see all 27) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
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 |
-- |
38(a) |
1 ↔ 1 |
GL343250.1(1052885-1081163) |
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 |
18(a) |
1 ↔ 1 |
II(14390644-14407829) |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
HAT16 |
histone acetyltransferase GCN5 |
13(a) |
1 → many |
3(20213560-20217653) |
rice (Oryza sativa) |
Liliopsida |
-- |
histone acetyltransferase GCN5, putative, expresse... |
15(a) |
1 → many |
10(14477875-14484313) |
ENSEMBL Gene Tree for BPTF (if available) TreeFam Gene Tree for BPTF (if available)  |
Paralogs for BPTF gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for BPTF gene
- BAZ1A2 BAZ2A2 BAZ2B2 CECR22 BAZ1B2 KAT2A2 KAT2B2
5 SIMAP similar genes for BPTF using alignment to 11 protein entries: BPTF_HUMAN (see all proteins):AIRE PHF8 PHF12 BRDT KAT2A
BPTF for paralogs About GeneDecksing
3 Pseudogenes.org Pseudogenes for BPTF PGOHUM00000237021 PGOHUM00000237150 PGOHUM00000237361
|
Genomic Variants for BPTF gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for BPTF (65821640 - 65980494 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for BPTF 3 CNVs: 73006 67250 22953 1 Indel: 25895  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BPTF |
|
Disorders
/ Diseases for BPTF gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BPTF for disorders About GeneDecksing
OMIM gene information: 601819
OMIM disorders: --
9 diseases for BPTF: About MalaCardsneurodegenerative disease alzheimer's disease amyotrophic lateral sclerosis lateral sclerosis typhus neurodegeneration lung cancer malaria neuronitis 1 disease from the University of Copenhagen DISEASES database for BPTF:Typhus 4 Novoseek disease relationships for BPTF gene About this table
Export disorders for BPTF gene to outside databases
|
Publications for BPTF gene (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 60): (articles sorted by number of sources associating them with BPTF) | |  | Utopia: connect your pdf to the dynamic world of online information |
- 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)
- Identification and characterization of BPTF, a novel bromodomain transcription factor. (PubMed id 10662542)1, 2, 3 Jones M.H.... Shimane M. (2000)
- 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)
- 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)
- 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)
- 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)
- 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)
- 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)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
- 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)
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Genome Databases showing BPTF gene
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Specialized Databases showing BPTF gene(According to PharmGKB,
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| Name | Description |
| PharmGKB entry for BPTF | Pharmacogenomics, SNPs, Pathways |
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| Patent Information for BPTF gene: Search GeneIP for patents involving BPTF
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Products for BPTF gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
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