BACC1 Gene - BPTF Associated Chromatin Complex Component 1
Comprehensive guide to BACC1: genomic location, function, expression, and clinical significance.
Gene Information Card
| Symbol | BACC1 |
|---|---|
| Full Name | BPTF associated chromatin complex component 1 |
| Gene Type | gene with protein product |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 124944 ncbi.nlm.nih.gov/gene/124944 |
| Ensembl ID | ENSG00000258315 |
| UniProt ID | Q8IXM2 |
| OMIM ID | 617215 |
| HGNC ID | HGNC:28737 |
| Aliases | MGC49942, BAP18, HEPIS, C17orf49 |
Description
BACC1 (BPTF associated chromatin complex component 1) is a protein-coding gene located on chromosome 17p13.1. It encodes a component of chromatin remodeling complexes and is involved in transcriptional regulation. BACC1 has been implicated in various cellular processes and may play a role in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may affect chromatin remodeling and gene expression, contributing to tumorigenesis. | Limited evidence from cell line studies and expression analyses. |
| Neurodevelopmental disorders | Potential role in neuronal gene regulation, but direct evidence is lacking. | Inferred from interaction with BPTF and chromatin remodeling. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 5.2 | Low |
| Liver | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 8.7 | Lung carcinoma cell line |
| HepG2 | 4.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% | Potential impact on protein function, not well characterized. |
| c.456C>T (p.R153*) | Nonsense | 0.005% | Predicted to cause loss of function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations may impair chromatin remodeling, potentially leading to dysregulated gene expression.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • transcription coregulator activity |
| • nucleosome binding |
Pathways
• Chromatin organization
• Transcriptional regulation
Protein Summary
The BACC1 protein is a component of chromatin remodeling complexes, interacting with BPTF and other factors. It likely plays a role in regulating gene expression by modulating chromatin structure. Its exact molecular functions and interactions are still under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BACC1 Knockout HEK293 Cell Line | EDJ-KQ8673 | Human | 124944 | Details Get a Quote |
| BACC1 Knockout A-549 Cell Line | EDJ-KQ34860 | Human | 124944 | Details Get a Quote |
| BACC1 Knockout HCT 116 Cell Line | EDJ-KQ34861 | Human | 124944 | Details Get a Quote |
| BACC1 Knockout HeLa Cell Line | EDJ-KQ34862 | Human | 124944 | Details Get a Quote |
