| Gene Symbol |
BLOC1S3
|
| Entrez Gene |
388552
|
| Alt Symbol |
BLOS3, HPS8, RP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
biogenesis of lysosomal organelles complex-1, subunit 3
|
| Other Description |
BLOC-1 subunit 3|biogenesis of lysosome-related organelles complex 1 subunit 3|biogenesis of lysosome-related organelles complex-1, subunit 3|reduced pigmentation, mouse, homolog of
|
| Swissprots |
B2RXB8 Q6QNY0
|
| Accessions |
Q6QNY0 AK130151 AK130186 BAC85300 AK296695 BAG59289 AY531266 AAT00462 BC151151 AAI51152 BC151152 AAI51153 BU616355 DC422050 DN996082 LN608738 XM_011526952 XP_011525254 XR_935826 XR_935827 XR_935828 XR_935829 NM_212550 NP_997715
|
| Function |
Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. {ECO:0000269|PubMed:16385460, ECO:0000269|PubMed:17182842}.
|
| Subcellular Location |
Cytoplasm {ECO:0000250}.
|