BLOC1S1
Biogenesis of Lysosomal Organelles Complex 1 Subunit 1
Gene Information Card
| Symbol | BLOC1S1 |
|---|---|
| Full Name | Biogenesis of Lysosomal Organelles Complex 1 Subunit 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 2647 ncbi.nlm.nih.gov/gene/2647 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | P78537 |
| OMIM ID | 601444 |
| HGNC ID | 1059 |
| Aliases | BLOS1, GCN5L1, GCN5-like 1 |
Description
BLOC1S1 encodes a subunit of the biogenesis of lysosomal organelles complex 1 (BLOC-1), which is involved in the formation of lysosome-related organelles such as melanosomes and platelet dense granules. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 8 (HPS8), a disorder characterized by oculocutaneous albinism and platelet storage pool deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 8 | Defective BLOC-1 complex impairs lysosome-related organelle biogenesis, leading to albinism and bleeding diathesis | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 10.3 | Medium |
| Liver | 8.7 | Low |
| Kidney | 14.1 | Medium |
| Testis | 18.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 12.5 | Moderate expression |
| K562 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.151C>T (p.Arg51*) | Nonsense | Rare | Loss of function; associated with HPS8 |
| c.202_203delAG (p.Ser68fs) | Frameshift | Rare | Loss of function; associated with HPS8 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein and loss of BLOC-1 complex integrity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • BLOC-1 complex (GO:0031083) | • lysosome (GO:0005764) |
| • lysosome localization (GO:0032418) | • melanosome (GO:0042470) |
Pathways
• Biogenesis of lysosome-related organelles (BLOC-1 pathway)
Protein Summary
BLOC1S1 is a 185-amino acid protein that forms part of the BLOC-1 complex. It localizes to endosomal membranes and is essential for the trafficking of cargo to lysosome-related organelles. The protein contains a coiled-coil domain that mediates interactions with other BLOC-1 subunits.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLOC1S1 Knockout HEK293 Cell Line | EDJ-KQ50295 | Human | 2647 | Details Get a Quote |
| BLOC1S1 Knockout HeLa Cell Line | EDJ-KQ53319 | Human | 2647 | Details Get a Quote |
| BLOC1S1 Knockout A-549 Cell Line | EDJ-KQ61802 | Human | 2647 | Details Get a Quote |
| BLOC1S1 Knockout HCT 116 Cell Line | EDJ-KQ70287 | Human | 2647 | Details Get a Quote |
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