BAZ1A
Bromodomain Adjacent to Zinc Finger Domain 1A
Gene Information Card
| Symbol | BAZ1A |
|---|---|
| Full Name | bromodomain adjacent to zinc finger domain 1A |
| Gene Type | protein-coding |
| Chromosomal Location | 14q13.2 |
| NCBI Gene ID | 11177 ncbi.nlm.nih.gov/gene/11177 |
| Ensembl ID | ENSG00000100811 |
| UniProt ID | Q9NRL2 |
| OMIM ID | 605681 |
| HGNC ID | 960 |
| Aliases | ACF1, WALp1, hACF1, BAZ1A |
Description
BAZ1A (bromodomain adjacent to zinc finger domain 1A) encodes a protein that is a subunit of the ATP-dependent chromatin remodeling complex ACF (ATP-utilizing chromatin assembly and remodeling factor). It contains a bromodomain and a PHD-type zinc finger, which mediate interactions with acetylated histones and chromatin. BAZ1A is involved in chromatin assembly, DNA replication, and transcriptional regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in BAZ1A disrupt chromatin remodeling, leading to impaired neuronal development | ClinVar (RCV003225722) |
| Intellectual disability | De novo missense variants affecting protein function | ClinVar (RCV003225723) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function |
| c.567G>A (p.Trp189Ter) | Nonsense | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons and truncated protein
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • chromatin remodeling | • DNA replication |
| • transcription regulation | • bromodomain |
| • zinc ion binding |
Pathways
• Chromatin organization
• Chromatin modifying enzymes
Protein Summary
BAZ1A is a 1,483-amino acid protein that contains a bromodomain and a PHD-type zinc finger. It functions as a regulatory subunit of the ACF chromatin remodeling complex, which uses ATP to slide nucleosomes and facilitate DNA access. The protein is involved in chromatin assembly during replication and transcriptional regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAZ1A Knockout HEK293 Cell Line | EDJ-KQ7319 | Human | 11177 | Details Get a Quote |
| BAZ1A Knockout A-549 Cell Line | EDJ-KQ32384 | Human | 11177 | Details Get a Quote |
| BAZ1A Knockout HCT 116 Cell Line | EDJ-KQ32385 | Human | 11177 | Details Get a Quote |
| BAZ1A Knockout HeLa Cell Line | EDJ-KQ32386 | Human | 11177 | Details Get a Quote |
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