BSDC1: BSD Domain Containing 1
A gene encoding a protein with a BSD domain, involved in chromatin remodeling and transcriptional regulation.
Gene Information Card
| Symbol | BSDC1 |
|---|---|
| Full Name | BSD domain containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 55108 ncbi.nlm.nih.gov/gene/55108 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q9NW68 |
| OMIM ID | 617733 |
| HGNC ID | 25462 |
| Aliases | C1orf41, FLJ10305 |
Description
BSDC1 (BSD domain containing 1) is a protein-coding gene located on chromosome 1p35.1. The encoded protein contains a BSD domain, which is a conserved motif found in transcription factors and chromatin-associated proteins. BSDC1 is implicated in chromatin remodeling and transcriptional regulation, though its precise biological functions are still under investigation. Expression data suggest broad tissue distribution with highest levels in testis and lymphoid organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association established | N/A | No curated disease entries in OMIM or ClinVar as of current data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.3 | Medium |
| Brain | 4.2 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in embryonic kidney cells |
| K562 | 10.1 | Moderate expression in leukemia cells |
| HeLa | 7.6 | Moderate expression in cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347C>T (p.Pro116Leu) | Missense | <0.01% | Unknown functional impact |
| c.512A>G (p.Asn171Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for BSDC1.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for BSDC1.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BSDC1.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • regulation of transcription, DNA-templated (GO:0006355) |
Pathways
• No specific pathways curated in major databases.
Protein Summary
The BSDC1 protein (UniProt Q9NW68) is 347 amino acids long and contains a BSD domain (residues 1-80). It localizes to the nucleus and is predicted to bind DNA, suggesting a role in transcriptional regulation. Structural studies indicate the BSD domain may mediate protein-protein interactions in chromatin complexes. No enzymatic activity has been assigned.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BSDC1 Knockout HEK293 Cell Line | EDJ-KQ12570 | Human | 55108 | Details Get a Quote |
| BSDC1 Knockout A-549 Cell Line | EDJ-KQ41590 | Human | 55108 | Details Get a Quote |
| BSDC1 Knockout HCT 116 Cell Line | EDJ-KQ41591 | Human | 55108 | Details Get a Quote |
| BSDC1 Knockout HeLa Cell Line | EDJ-KQ41592 | Human | 55108 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
