BRPF1 (bromodomain and PHD finger containing 1)

2003-02-01  

Identity

HGNC
LOCATION
3p25.3
LOCUSID
ALIAS
BR140,IDDDFP
FUSION GENES

Other Information

Locus ID:

NCBI: 7862
MIM: 602410
HGNC: 14255
Ensembl: ENSG00000156983

Variants:

dbSNP: 7862
ClinVar: 7862
TCGA: ENSG00000156983
COSMIC: BRPF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156983ENST00000383829P55201
ENSG00000156983ENST00000420291C9JDK5
ENSG00000156983ENST00000424362P55201
ENSG00000156983ENST00000426583C9JHC0
ENSG00000156983ENST00000433861P55201
ENSG00000156983ENST00000457855P55201

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
HATs acetylate histonesREACTOMER-HSA-3214847
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through AcetylationREACTOMER-HSA-6804758

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
204009502010Molecular basis of histone H3K36me3 recognition by the PWWP domain of Brpf1.103
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
243334872014Molecular insights into the recognition of N-terminal histone modifications by the BRPF1 bromodomain.27
279396402017Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.16
252812662014Structural insights into recognition of acetylated histone ligands by the BRPF1 bromodomain.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
279396392017Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.10
242587122014Bromodomain-PHD finger protein 1 is critical for leukemogenesis associated with MOZ-TIF2 fusion.8

Citation

Dessen P

BRPF1 (bromodomain and PHD finger containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/844/brpf1