BLOC1S6 Gene - Biogenesis of Lysosomal Organelles Complex 1 Subunit 6
BLOC1S6: A key component in lysosome-related organelle biogenesis and Hermansky-Pudlak syndrome
Gene Information Card
| Symbol | BLOC1S6 |
|---|---|
| Full Name | Biogenesis of lysosomal organelles complex 1 subunit 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 26258 ncbi.nlm.nih.gov/gene/26258 |
| Ensembl ID | ENSG00000104081 |
| UniProt ID | Q9UL45 |
| OMIM ID | 604310 |
| HGNC ID | 10680 |
| Aliases | PA, pallidin, HPS9, BLOS6 |
Description
BLOC1S6 encodes pallidin, a subunit of the biogenesis of lysosomal organelles complex 1 (BLOC-1). BLOC-1 is required for the biogenesis of specialized lysosome-related organelles such as melanosomes and platelet dense granules. Mutations in BLOC1S6 cause Hermansky-Pudlak syndrome type 9 (HPS9), characterized by oculocutaneous albinism, bleeding diathesis, and sometimes pulmonary fibrosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome 9 (HPS9) | Loss-of-function mutations in BLOC1S6 disrupt BLOC-1 complex assembly, impairing melanosome and platelet dense granule biogenesis. | OMIM #614171; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 10.2 | Medium |
| Skin | 15.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Moderate expression |
| HeLa | 11.5 | Moderate expression |
| K562 | 8.0 | Low expression |
| SH-SY5Y | 16.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.232C>T (p.Arg78*) | Nonsense | Rare | Premature stop; loss of pallidin function |
| c.334_335delAG (p.Ser112fs) | Frameshift | Rare | Frameshift; truncated protein |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation |
Mutation functional classification
Loss of Function (LOF)
Most reported BLOC1S6 mutations are loss-of-function (nonsense, frameshift, splice-site), leading to absent or non-functional pallidin protein and disrupted BLOC-1 complex.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • BLOC-1 complex (GO:0031083) | • lysosome (GO:0005764) |
| • secretory granule (GO:0030141) | • melanosome (GO:0042470) |
| • vesicle-mediated transport (GO:0016192) | • vesicle fusion (GO:0006906) |
Pathways
• Biogenesis of lysosome-related organelles complex 1 (BLOC-1) pathway
• Hermansky-Pudlak syndrome pathway
Protein Summary
Pallidin (BLOC1S6) is a 172-amino-acid protein that localizes to the cytosol and associates with membranes. It is a stable component of the BLOC-1 complex, which also includes BLOC1S1–BLOC1S5, BLOC1S7, and BLOC1S8. Pallidin interacts with syntaxin 13 and other SNARE proteins, facilitating membrane fusion events required for organelle biogenesis. Loss of pallidin leads to defective melanosome maturation and platelet dense granule deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BLOC1S6 Knockout HEK293 Cell Line | EDJ-KQ8488 | Human | 26258 | Details Get a Quote |
| BLOC1S6 Knockout A-549 Cell Line | EDJ-KQ34602 | Human | 26258 | Details Get a Quote |
| BLOC1S6 Knockout HCT 116 Cell Line | EDJ-KQ34603 | Human | 26258 | Details Get a Quote |
| BLOC1S6 Knockout HeLa Cell Line | EDJ-KQ34604 | Human | 26258 | Details Get a Quote |
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