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
383466662024Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.0
383466662024Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder.0
371908962023Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.0
374235122023Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain malignant progression in colon cancer.0
371908962023Anemia and thrombocytopenia due to a novel BRPF1 variant in a family from Çanakkale with intellectual disability and dysmorphic facies: Case report and review of the literature.0
374235122023Pygo2 activates BRPF1 via Pygo2-H3K4me2/3 interaction to maintain malignant progression in colon cancer.0
342853292021Bromodomain-containing protein BRPF1 is a therapeutic target for liver cancer.14
342853292021Bromodomain-containing protein BRPF1 is a therapeutic target for liver cancer.14
317117552020Molecular Basis for the PZP Domain of BRPF1 Association with Chromatin.13
317117552020Molecular Basis for the PZP Domain of BRPF1 Association with Chromatin.13
318519322019Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.9
318519322019Truncated BRPF1 Cooperates with Smoothened to Promote Adult Shh Medulloblastoma.9
279396392017Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.30
279396402017Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.45
279396392017Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.30

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-(bromodomain-and-phd-finger-containing-1)