Human Gene BRPF1 (uc003bsf.3) Description and Page Index
  Description: Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 1, mRNA.
RefSeq Summary (NM_001003694): This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].
Transcript (Including UTRs)
   Position: hg19 chr3:9,773,434-9,789,699 Size: 16,266 Total Exon Count: 14 Strand: +
Coding Region
   Position: hg19 chr3:9,775,825-9,789,033 Size: 13,209 Coding Exon Count: 13 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:9,773,434-9,789,699)mRNA (may differ from genome)Protein (1220 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BRPF1
CDC HuGE Published Literature: BRPF1

-  MalaCards Disease Associations
  MalaCards Gene Search: BRPF1
Diseases sorted by gene-association score: intellectual developmental disorder with dysmorphic facies and ptosis* (1230), harel-yoon syndrome* (231), intellectual disability* (209), alacrima, achalasia, and mental retardation syndrome* (87), ptosis (29), adult medulloblastoma (16), syndromic intellectual disability (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 14.51 RPKM in Testis
Total median expression: 275.26 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 -231.80399-0.581 Picture PostScript Text
3' UTR -229.51666-0.345 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
  Pfam Domains:
PF00439 - Bromodomain
PF00628 - PHD-finger
PF00855 - PWWP domain
PF10513 - Enhancer of polycomb-like
PF13771 - PHD-like zinc-binding domain
PF13831 - PHD-finger
PF13832 - PHD-zinc-finger like domain

SCOP Domains:
47370 - Bromodomain
63748 - Tudor/PWWP/MBT
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on P55201-2
FrontTopSide
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
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF207335 - JP 2014500723-A/14838: Polycomb-Associated Non-Coding RNAs.
AK293865 - Homo sapiens cDNA FLJ60100 complete cds, highly similar to Peregrin.
BC068262 - Homo sapiens cDNA clone IMAGE:5272879, containing frame-shift errors.
BC036374 - Homo sapiens cDNA clone IMAGE:4821313, containing frame-shift errors.
BC053851 - Homo sapiens bromodomain and PHD finger containing, 1, mRNA (cDNA clone MGC:61492 IMAGE:6140996), complete cds.
AL713696 - Homo sapiens mRNA; cDNA DKFZp547C058 (from clone DKFZp547C058).
M91585 - Human Br140 mRNA, complete cds.
LF207336 - JP 2014500723-A/14839: Polycomb-Associated Non-Coding RNAs.
JD090301 - Sequence 71325 from Patent EP1572962.
KJ897789 - Synthetic construct Homo sapiens clone ccsbBroadEn_07183 BRPF1 gene, encodes complete protein.
AB384727 - Synthetic construct DNA, clone: pF1KB3027, Homo sapiens BRPF1 gene for peregrin, complete cds, without stop codon, in Flexi system.
LF365079 - JP 2014500723-A/172582: Polycomb-Associated Non-Coding RNAs.
LF365080 - JP 2014500723-A/172583: Polycomb-Associated Non-Coding RNAs.
LF365081 - JP 2014500723-A/172584: Polycomb-Associated Non-Coding RNAs.
LF365083 - JP 2014500723-A/172586: Polycomb-Associated Non-Coding RNAs.
LF365084 - JP 2014500723-A/172587: Polycomb-Associated Non-Coding RNAs.
JD495690 - Sequence 476714 from Patent EP1572962.
JD324695 - Sequence 305719 from Patent EP1572962.
JD160280 - Sequence 141304 from Patent EP1572962.
JD139671 - Sequence 120695 from Patent EP1572962.
JD433671 - Sequence 414695 from Patent EP1572962.
JD330931 - Sequence 311955 from Patent EP1572962.
JD107067 - Sequence 88091 from Patent EP1572962.
JD063106 - Sequence 44130 from Patent EP1572962.
LF365086 - JP 2014500723-A/172589: Polycomb-Associated Non-Coding RNAs.
JD498460 - Sequence 479484 from Patent EP1572962.
JD038795 - Sequence 19819 from Patent EP1572962.
MA600656 - JP 2018138019-A/172582: Polycomb-Associated Non-Coding RNAs.
MA600657 - JP 2018138019-A/172583: Polycomb-Associated Non-Coding RNAs.
MA600658 - JP 2018138019-A/172584: Polycomb-Associated Non-Coding RNAs.
MA600660 - JP 2018138019-A/172586: Polycomb-Associated Non-Coding RNAs.
MA600661 - JP 2018138019-A/172587: Polycomb-Associated Non-Coding RNAs.
MA600663 - JP 2018138019-A/172589: Polycomb-Associated Non-Coding RNAs.
MA442912 - JP 2018138019-A/14838: Polycomb-Associated Non-Coding RNAs.
MA442913 - JP 2018138019-A/14839: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55201 (Reactome details) participates in the following event(s):

R-HSA-6805620 KAT6A and PML bind TP53
R-HSA-6805640 AKT phosphorylates KAT6A
R-HSA-3318486 KAT6A, KAT6B-containing ING5 complexes acetylate replicative histone H3
R-HSA-6805638 KAT6A acetylates TP53
R-HSA-6805650 MTA2-NuRD complex deacetylates TP53
R-HSA-6804758 Regulation of TP53 Activity through Acetylation
R-HSA-3214847 HATs acetylate histones
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-4839726 Chromatin organization
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: BR140, NM_001003694, NP_001003694, P55201-2
UCSC ID: uc003bsf.3
RefSeq Accession: NM_001003694
Protein: P55201-2, splice isoform of P55201 CCDS: CCDS2575.1, CCDS33692.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001003694.1
exon count: 14CDS single in 3' UTR: no RNA size: 4728
ORF size: 3663CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7496.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.