| Gene Symbol |
BLOC1S1
|
| Entrez Gene |
2647
|
| Alt Symbol |
BLOS1, GCN5L1, MICoA, RT14
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
biogenesis of lysosomal organelles complex-1, subunit 1
|
| Other Description |
BLOC subunit 1|BLOC-1 subunit 1|GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1|GCN5 general control of amino-acid synthesis 5-like 1|GCN5-like protein 1|MTA1-interacting coactivator|biogenesis of lysosome-related organelles complex 1 subunit 1
|
| Swissprots |
P78537 Q6NZ45 A1L4Q9
|
| Accessions |
EAW96824 P78537 AI673441 AI816035 AK307069 BC066340 BC130640 AAI30641 BC132795 AAI32796 BQ899204 BU601406 CN263524 D64007 BAA10887 DA243440 DA864590 S82447 AAB37682 NR_037656 NR_037657 NM_001487 NP_001478 NR_037655
|
| 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. May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5A1 and NDUFA9. {ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:22309213}.
|
| Subcellular Location |
Mitochondrion intermembrane space {ECO:0000269|PubMed:22309213}. Mitochondrion matrix {ECO:0000269|PubMed:22309213}. Cytoplasm, cytosol {ECO:0000269|PubMed:22309213}.
|