BLOC1S5: Biogenesis of Lysosomal Organelles Complex 1 Subunit 5
A core component of the BLOC-1 complex involved in lysosome-related organelle biogenesis and intracellular trafficking.
Gene Information Card
| Symbol | BLOC1S5 |
|---|---|
| Full Name | Biogenesis of Lysosomal Organelles Complex 1 Subunit 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.3 |
| NCBI Gene ID | 63941 ncbi.nlm.nih.gov/gene/63941 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q8TEW0 |
| OMIM ID | 607607 |
| HGNC ID | 20985 |
| Aliases | BLOS5, MDSD, MU-2, MDSD1 |
Description
BLOC1S5 encodes a subunit of the biogenesis of lysosomal organelles complex 1 (BLOC-1), which is essential for the formation of lysosome-related organelles such as melanosomes and platelet dense granules. The protein interacts with other BLOC-1 subunits to facilitate cargo sorting and vesicle trafficking from early endosomes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 11 (HPS11) | Loss-of-function mutations in BLOC1S5 disrupt BLOC-1 complex assembly, impairing melanosome and dense granule biogenesis. | OMIM #619172; ClinVar pathogenic variants reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 6.5 | Low |
| Liver | 4.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 9.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Moderate expression |
| K562 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51*) | Nonsense | <0.01% | Loss of function; associated with HPS11 |
| c.200_201del (p.Glu67fs) | Frameshift | <0.01% | Loss of function; pathogenic in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, disrupting BLOC-1 complex and causing HPS11.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BLOC-1 complex (GO:0031083) | • melanosome organization (GO:0032438) |
| • intracellular transport (GO:0046907) | • endosome (GO:0005768) |
Pathways
• Lysosome-related organelle biogenesis (Reactome: R-HSA-432722)
• BLOC-1 complex assembly (UniProt: Q8TEW0)
Protein Summary
BLOC1S5 is a 185-amino acid protein that localizes to the cytosol and associates with endosomal membranes as part of the BLOC-1 complex. It contains a coiled-coil domain mediating protein-protein interactions. The protein is ubiquitously expressed with higher levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLOC1S5 Knockout HEK293 Cell Line | EDJ-KQ12541 | Human | 63915 | Details Get a Quote |
| BLOC1S5 Knockout A-549 Cell Line | EDJ-KQ41539 | Human | 63915 | Details Get a Quote |
| BLOC1S5 Knockout HCT 116 Cell Line | EDJ-KQ41540 | Human | 63915 | Details Get a Quote |
| BLOC1S5 Knockout HeLa Cell Line | EDJ-KQ41541 | Human | 63915 | Details Get a Quote |
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