BORCS5
BLOC-1 Related Complex Subunit 5
Gene Information Card
| Symbol | BORCS5 |
|---|---|
| Full Name | BLOC-1 Related Complex Subunit 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 84787 ncbi.nlm.nih.gov/gene/84787 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q96EK5 |
| OMIM ID | 617829 |
| HGNC ID | 28367 |
| Aliases | C12orf4, MGC13170, BLOC1S5 |
Description
BORCS5 (BLOC-1 Related Complex Subunit 5) encodes a component of the BLOC-1-related complex (BORC), which is involved in endosomal trafficking and lysosome biogenesis. The protein localizes to endosomes and regulates the transport of cargo from endosomes to lysosomes. BORCS5 is part of a larger complex that includes other BORC subunits and is essential for proper lysosomal function and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported in OMIM or ClinVar | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.0 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • endosome to lysosome transport | • lysosome organization |
| • protein-containing complex assembly | • endosome membrane |
Pathways
• BLOC-1 related complex (BORC) pathway
• Endosomal trafficking
Protein Summary
BORCS5 is a 164-amino acid protein with a molecular weight of approximately 18 kDa. It contains a coiled-coil domain and is predicted to be a peripheral membrane protein. The protein interacts with other BORC subunits to form a complex that regulates endosomal maturation and lysosome biogenesis. No crystal structure is available, but homology modeling suggests it adopts an alpha-helical conformation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BORCS5 Knockout HEK293 Cell Line | EDJ-KQ7617 | Human | 118426 | Details Get a Quote |
| BORCS5 Knockout A-549 Cell Line | EDJ-KQ32960 | Human | 118426 | Details Get a Quote |
| BORCS5 Knockout HeLa Cell Line | EDJ-KQ32962 | Human | 118426 | Details Get a Quote |
| BORCS5 Knockout HCT 116 Cell Line | EDJ-KQ31618 | Human | 118426 | Details Get a Quote |
