Aliases for BLOC1S1 Gene
External Ids for BLOC1S1 Gene
Previous HGNC Symbols for BLOC1S1 Gene
Previous GeneCards Identifiers for BLOC1S1 Gene
BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004 [PubMed 15102850]).[supplied by OMIM, Mar 2008]
GeneCards Summary for BLOC1S1 Gene
BLOC1S1 (Biogenesis Of Lysosomal Organelles Complex 1 Subunit 1) is a Protein Coding gene. Diseases associated with BLOC1S1 include Autosomal Genetic Disease and Autosomal Recessive Disease. Among its related pathways are Vesicle-mediated transport and Clathrin derived vesicle budding. An important paralog of this gene is ENSG00000258311.
UniProtKB/Swiss-Prot for BLOC1S1 Gene
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 (PubMed:17182842). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167).
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 ATP5F1A and NDUFA9.