BAHCC1
BAH domain and coiled-coil containing 1
Gene Information Card
| Symbol | BAHCC1 |
|---|---|
| Full Name | BAH domain and coiled-coil containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 57597 ncbi.nlm.nih.gov/gene/57597 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9P281 |
| OMIM ID | 618943 |
| HGNC ID | 29261 |
| Aliases | MGC12966, FLJ10858 |
Description
BAHCC1 encodes a protein containing a BAH (bromo-adjacent homology) domain and coiled-coil regions, suggesting roles in chromatin binding and protein-protein interactions. It is implicated in transcriptional regulation and may function in epigenetic silencing. Expression is enriched in testis and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Overexpression and copy number gains; potential oncogenic role via chromatin remodeling | COSMIC: recurrent mutations and amplifications in multiple cancer types |
| Lung adenocarcinoma | Upregulation associated with poor prognosis | TCGA data via NCBI Gene |
| Colorectal cancer | Altered expression linked to tumor progression | COSMIC: somatic mutations reported |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Bone marrow | 10.2 | Medium |
| Lung | 6.8 | Low |
| Colon | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | Embryonic kidney |
| A549 | 8.7 | Lung carcinoma |
| HCT116 | 6.2 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.02% (gnomAD) | Loss of function |
| c.567_568insA (p.Glu190fs) | Frameshift | 0.01% (COSMIC) | Loss of function |
| c.2101G>A (p.Gly701Arg) | Missense | 0.05% (COSMIC) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants predicted to cause protein truncation or nonsense-mediated decay.
Gain of Function (GOF)
Not established; amplifications in cancer may suggest oncogenic gain-of-function.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • chromatin binding | • protein homodimerization activity |
| • nucleus | • regulation of transcription |
| • DNA-templated |
Pathways
• Chromatin organization
• Transcriptional regulation by BAH domain proteins
Protein Summary
The BAHCC1 protein (UniProt Q9P281) contains an N-terminal BAH domain that mediates interaction with methylated histones, and coiled-coil regions that facilitate dimerization. It localizes to the nucleus and is proposed to act as a transcriptional repressor through chromatin remodeling. Expression is tissue-specific and dysregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAHCC1 Knockout HEK293 Cell Line | EDJ-KQ12510 | Human | 57597 | Details Get a Quote |
| BAHCC1 Knockout HCT 116 Cell Line | EDJ-KQ40204 | Human | 57597 | Details Get a Quote |
| BAHCC1 Knockout A-549 Cell Line | EDJ-KQ41492 | Human | 57597 | Details Get a Quote |
| BAHCC1 Knockout HeLa Cell Line | EDJ-KQ56879 | Human | 57597 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
