Human Gene BPTF (ENST00000306378.11_5) from GENCODE V47lift37
  Description: bromodomain PHD finger transcription factor, transcript variant 1 (from RefSeq NM_182641.4)
Gencode Transcript: ENST00000306378.11_5
Gencode Gene: ENSG00000171634.19_17
Transcript (Including UTRs)
   Position: hg19 chr17:65,821,619-65,980,494 Size: 158,876 Total Exon Count: 28 Strand: +
Coding Region
   Position: hg19 chr17:65,821,841-65,978,404 Size: 156,564 Coding Exon Count: 28 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:65,821,619-65,980,494)mRNA (may differ from genome)Protein (2920 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: BPTF_HUMAN
DESCRIPTION: RecName: Full=Nucleosome-remodeling factor subunit BPTF; AltName: Full=Bromodomain and PHD finger-containing transcription factor; AltName: Full=Fetal Alz-50 clone 1 protein; AltName: Full=Fetal Alzheimer antigen;
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.
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.
INTERACTION: Q71DI3:HIST2H3A; NbExp=2; IntAct=EBI-4288838, EBI-750650; P62805:HIST2H4B; NbExp=16; IntAct=EBI-4288838, EBI-302023;
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=In brains of Alzheimer disease patients, present in a subset of amyloid- containing plaques.
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).
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).
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.
PTM: Phosphorylation enhances DNA-binding. Phosphorylated upon DNA damage, probably by ATM or ATR.
PTM: Highly susceptible to proteolysis.
SIMILARITY: Belongs to the PBTF family.
SIMILARITY: Contains 1 bromo domain.
SIMILARITY: Contains 1 DDT domain.
SIMILARITY: Contains 2 PHD-type zinc fingers.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: BPTF
Diseases sorted by gene-association score: alacrima, achalasia, and mental retardation syndrome* (89), intellectual disability* (72), lacrimal gland adenocarcinoma (16), lacrimal gland carcinoma (12), lacrimal system cancer (11), lacrimal gland adenoid cystic carcinoma (7), alzheimer disease (7)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.73 RPKM in Brain - Cerebellum
Total median expression: 362.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.70222-0.382 Picture PostScript Text
3' UTR -464.202090-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS
IPR004022 - DDT_dom
IPR018500 - DDT_dom_subgr
IPR018501 - DDT_dom_superfamily
IPR019786 - Zinc_finger_PHD-type_CS
IPR011011 - Znf_FYVE_PHD
IPR001965 - Znf_PHD
IPR019787 - Znf_PHD-finger
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00439 - Bromodomain
PF00628 - PHD-finger
PF02791 - DDT domain
PF15613 - Williams-Beuren syndrome DDT (WSD), D-TOX E motif

SCOP Domains:
47370 - Bromodomain
57889 - Cysteine-rich domain
57903 - FYVE/PHD zinc finger

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2F6J - X-ray 2F6N - X-ray 2FSA - X-ray 2FUI - NMR 2FUU - NMR 2RI7 - X-ray MuPIT 3QZS - X-ray MuPIT 3QZT - X-ray MuPIT 3QZV - X-ray MuPIT 3UV2 - X-ray


ModBase Predicted Comparative 3D Structure on Q12830
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0035064 methylated histone binding
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding
GO:0008094 DNA-dependent ATPase activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001892 embryonic placenta development
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007420 brain development
GO:0007492 endoderm development
GO:0009611 response to wounding
GO:0009952 anterior/posterior pattern specification
GO:0045893 positive regulation of transcription, DNA-templated
GO:1990090 cellular response to nerve growth factor stimulus

Cellular Component:
GO:0000790 nuclear chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016589 NURF complex
GO:0030425 dendrite
GO:0043005 neuron projection
GO:0044297 cell body
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome
GO:0048188 Set1C/COMPASS complex


-  Descriptions from all associated GenBank mRNAs
  AB032251 - Homo sapiens BPTF mRNA for bromodomain PHD finger transcription factor, complete cds.
AY282495 - Homo sapiens bromodomain PHD finger transcription factor mRNA, complete cds.
AK025776 - Homo sapiens cDNA: FLJ22123 fis, clone HEP19337, highly similar to AB032251 Homo sapiens BPTF mRNA for bromodomain PHD finger transcription factor.
AK022570 - Homo sapiens cDNA FLJ12508 fis, clone NT2RM2001716, highly similar to Homo sapiens BPTF mRNA for bromodomain PHD finger transcription factor.
AK297281 - Homo sapiens cDNA FLJ56464 complete cds, highly similar to Fetal Alzheimer antigen.
BC037422 - Homo sapiens, Similar to fetal Alzheimer antigen, clone IMAGE:5497063, mRNA.
JD271279 - Sequence 252303 from Patent EP1572962.
JD458430 - Sequence 439454 from Patent EP1572962.
JD056223 - Sequence 37247 from Patent EP1572962.
JD128940 - Sequence 109964 from Patent EP1572962.
JD458280 - Sequence 439304 from Patent EP1572962.
JD458281 - Sequence 439305 from Patent EP1572962.
JD458282 - Sequence 439306 from Patent EP1572962.
AK293224 - Homo sapiens cDNA FLJ57044 complete cds, highly similar to Homo sapiens fetal Alzheimer antigen (FALZ), transcript variant 1, mRNA.
JD471379 - Sequence 452403 from Patent EP1572962.
U05237 - Homo sapiens clone fetal Alz-50-reactive clone 1 dev-stage gestational week 22 FAC1 (FAC1) mRNA, complete cds.
AK027184 - Homo sapiens cDNA: FLJ23531 fis, clone LNG06065.
AK296256 - Homo sapiens cDNA FLJ61297 complete cds, highly similar to Homo sapiens fetal Alzheimer antigen (FALZ), transcript variant 1, mRNA.
AL833375 - Homo sapiens mRNA; cDNA DKFZp667H1714 (from clone DKFZp667H1714).
BC039881 - Homo sapiens bromodomain PHD finger transcription factor, mRNA (cDNA clone IMAGE:5113116), with apparent retained intron.
BC050566 - Homo sapiens bromodomain PHD finger transcription factor, mRNA (cDNA clone IMAGE:3870623), partial cds.
BC067234 - Homo sapiens bromodomain PHD finger transcription factor, mRNA (cDNA clone IMAGE:4557629), partial cds.
AK022081 - Homo sapiens cDNA FLJ12019 fis, clone HEMBB1001749, weakly similar to TRANSCRIPTIONAL ACTIVATOR GCN5.
AK130939 - Homo sapiens cDNA FLJ27429 fis, clone WMD07746, highly similar to Homo sapiens bromodomain PHD finger transcription factor mRNA.
JD040362 - Sequence 21386 from Patent EP1572962.
JD039563 - Sequence 20587 from Patent EP1572962.
JD552404 - Sequence 533428 from Patent EP1572962.
JD303983 - Sequence 285007 from Patent EP1572962.
JD182746 - Sequence 163770 from Patent EP1572962.
JD354937 - Sequence 335961 from Patent EP1572962.
JD101028 - Sequence 82052 from Patent EP1572962.
JD285653 - Sequence 266677 from Patent EP1572962.
JD347280 - Sequence 328304 from Patent EP1572962.
JD147055 - Sequence 128079 from Patent EP1572962.
JD183407 - Sequence 164431 from Patent EP1572962.
JD102611 - Sequence 83635 from Patent EP1572962.
JD347687 - Sequence 328711 from Patent EP1572962.
JD504714 - Sequence 485738 from Patent EP1572962.
JD545402 - Sequence 526426 from Patent EP1572962.
JD486200 - Sequence 467224 from Patent EP1572962.
JD107764 - Sequence 88788 from Patent EP1572962.
JD244364 - Sequence 225388 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BPTF_HUMAN, ENST00000306378.1, ENST00000306378.10, ENST00000306378.2, ENST00000306378.3, ENST00000306378.4, ENST00000306378.5, ENST00000306378.6, ENST00000306378.7, ENST00000306378.8, ENST00000306378.9, FAC1, FALZ, NM_182641, Q12830, Q6NX67, Q7Z7D6, Q9UIG2, uc317nvi.1, uc317nvi.2
UCSC ID: ENST00000306378.11_5
RefSeq Accession: NM_182641.4
Protein: Q12830 (aka BPTF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.