BRPF3 Gene (Bromodomain and PHD Finger Containing 3)
A chromatin regulator gene involved in transcriptional activation and development, with potential implications in cancer and neurodevelopmental disorders.
Gene Information Card
| Symbol | BRPF3 |
|---|---|
| Full Name | Bromodomain and PHD Finger Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 27154 ncbi.nlm.nih.gov/gene/27154 |
| Ensembl ID | ENSG00000112742 |
| UniProt ID | Q9Y6K1 |
| OMIM ID | 616856 |
| HGNC ID | 14255 |
| Aliases | BRD35, FLJ20309, MGC131851 |
Description
BRPF3 (Bromodomain and PHD Finger Containing 3) encodes a chromatin-associated protein that functions as a scaffold for the HBO1 (KAT7) histone acetyltransferase complex. It contains multiple domains including a bromodomain, two PHD fingers, and a PWWP domain, which mediate binding to acetylated histones and methylated histones, respectively. BRPF3 is involved in transcriptional activation, DNA replication, and chromatin remodeling, and is essential for normal development. Mutations and altered expression of BRPF3 have been linked to neurodevelopmental disorders and various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability and dysmorphic features | Loss-of-function mutations in BRPF3 disrupt HBO1 complex activity, impairing histone acetylation and gene expression critical for brain development. | ClinVar; PMID: 31036916 |
| Acute myeloid leukemia (AML) | BRPF3 overexpression or fusion proteins (e.g., BRPF3-MLL) may drive leukemogenesis by aberrantly activating HOX gene expression. | COSMIC; PMID: 28481328 |
| Colorectal cancer | BRPF3 amplification and overexpression correlate with poor prognosis, potentially via enhanced Wnt/β-catenin signaling. | COSMIC; PMID: 29395075 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 (embryonic kidney) | 15.3 | High expression |
| K562 (leukemia) | 12.8 | Medium expression |
| HepG2 (liver cancer) | 9.7 | Low expression |
| MCF7 (breast cancer) | 7.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1873C>T (p.Arg625*) | Nonsense | <0.1% | Loss of function; truncation of C-terminal bromodomain |
| c.2450A>G (p.Asn817Ser) | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.1123_1124insA (p.Thr375Asnfs*2) | Frameshift | <0.1% | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in BRPF3 are classified as loss-of-function, leading to haploinsufficiency or complete loss of protein activity, associated with neurodevelopmental disorders.
Gain of Function (GOF)
Amplification or overexpression of BRPF3 in cancers may represent a gain-of-function mechanism, enhancing HBO1 complex activity and promoting oncogenic transcription.
Dominant Negative (DN)
No dominant-negative mutations have been reported for BRPF3 to date.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • chromatin binding (GO:0003682) |
| • histone acetyltransferase activity (GO:0004402) | • nucleus (GO:0005634) |
| • chromatin organization (GO:0006325) | • regulation of transcription by RNA polymerase II (GO:0006357) |
| • histone H3 acetylation (GO:0043966) | • histone H4 acetylation (GO:0043967) |
Pathways
• Histone acetylation by HBO1 complex (Reactome: R-HSA-3214847)
• Chromatin modifying enzymes (KEGG: hsa05202)
• Transcriptional regulation by BRPF1/2/3 (PMID: 28481328)
Protein Summary
BRPF3 is a 1,117-amino acid multidomain protein (UniProt Q9Y6K1) that acts as a scaffold for the HBO1 histone acetyltransferase complex. It contains an N-terminal PWWP domain, two PHD fingers, a bromodomain, and a C-terminal domain. The PWWP domain binds H3K36me3, PHD fingers recognize unmodified H3K4 and H3K4me0, and the bromodomain binds acetylated lysines on histones. BRPF3 enhances HBO1 catalytic activity and substrate specificity, promoting acetylation of histone H3 at lysine 14 (H3K14ac) and histone H4 at lysine 5/8/12 (H4K5ac, H4K8ac, H4K12ac). This protein is essential for embryonic development, hematopoiesis, and neurogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRPF3 Knockout HEK293 Cell Line | EDJ-KQ7961 | Human | 27154 | Details Get a Quote |
| BRPF3 Knockout A-549 Cell Line | EDJ-KQ34918 | Human | 27154 | Details Get a Quote |
| BRPF3 Knockout HCT 116 Cell Line | EDJ-KQ34920 | Human | 27154 | Details Get a Quote |
| BRPF3 Knockout HeLa Cell Line | EDJ-KQ34921 | Human | 27154 | Details Get a Quote |
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