BRD1: Bromodomain Containing 1
A chromatin reader involved in transcriptional regulation and neurodevelopmental disorders
Gene Information Card
| Symbol | BRD1 |
|---|---|
| Full Name | Bromodomain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.33 |
| NCBI Gene ID | 23774 ncbi.nlm.nih.gov/gene/23774 |
| Ensembl ID | ENSG00000100425 |
| UniProt ID | O95696 |
| OMIM ID | 604589 |
| HGNC ID | 1101 |
| Aliases | BRPF1, BR140, FLJ10385 |
Description
BRD1 (bromodomain containing 1) encodes a protein that contains a bromodomain, a PHD finger, and a zinc finger. It functions as a chromatin reader, recognizing acetylated histones and recruiting transcriptional regulators. BRD1 is involved in chromatin remodeling and gene expression, particularly during neurodevelopment. Mutations in BRD1 are associated with neurodevelopmental disorders including intellectual disability and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) | Loss-of-function mutations in BRD1 impair chromatin binding and transcriptional regulation, leading to abnormal neurodevelopment. | ClinVar, OMIM |
| Autism spectrum disorder | De novo missense variants in BRD1 disrupt protein function and are implicated in ASD pathogenesis. | ClinVar, NCBI |
| Intellectual disability | Heterozygous pathogenic variants in BRD1 cause autosomal dominant intellectual disability. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 4.2 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Embryonic kidney cells |
| SH-SY5Y | 14.7 | Neuroblastoma cell line |
| HeLa | 7.5 | Cervical carcinoma cells |
| K562 | 5.9 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1672C>T (p.Arg558*) | Nonsense | Rare | Loss of function; premature truncation |
| c.2150G>A (p.Arg717Gln) | Missense | Rare | Likely damaging; disrupts bromodomain function |
| c.2443C>T (p.Arg815Trp) | Missense | Rare | Pathogenic; associated with NEDDFL |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants in the bromodomain may interfere with wild-type protein function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization
• Transcriptional regulation by BRD1
Protein Summary
BRD1 is a 1,058-amino-acid protein containing an N-terminal bromodomain, a PHD finger, and a zinc finger. It binds acetylated histones H3 and H4, facilitating recruitment of chromatin-modifying complexes. BRD1 is highly expressed in brain and testis, and plays a critical role in neuronal differentiation and synaptic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BRD1 Knockout HAP1 Cell Line | EDC07987 | Human | 23774 | Details Get a Quote |
| BRD10 Knockout HeLa Cell Line | EDJ-KQ43819 | Human | 158358 | Details Get a Quote |
| BRD10 Knockout HCT 116 Cell Line | EDJ-KQ43818 | Human | 158358 | Details Get a Quote |
| BRD10 Knockout A-549 Cell Line | EDJ-KQ43817 | Human | 158358 | Details Get a Quote |
| BRD1 Knockout A-549 Cell Line | EDJ-KQ32683 | Human | 23774 | Details Get a Quote |
| BRD1 Knockout HeLa Cell Line | EDJ-KQ34026 | Human | 23774 | Details Get a Quote |
| BRD1 Knockout HCT 116 Cell Line | EDJ-KQ34025 | Human | 23774 | Details Get a Quote |
| BRD10 Knockout HEK293 Cell Line | EDJ-KQ13930 | Human | 158358 | Details Get a Quote |
| BRD1 Knockout HEK293 Cell Line | EDJ-KQ8135 | Human | 23774 | Details Get a Quote |
