Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC1S1)

Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC1S1; also known as BLOS1, GCN5L1, BORCS1) is a ubiquitously expressed protein that functions as an essential component of the BLOC-1 and BORC multiprotein complexes, which are required for the proper biogenesis, trafficking, and positioning of lysosome-related organelles such as melanosomes and platelet dense granules. BLOC1S1 contributes to membrane protein cargo trafficking within the endosomal-lysosomal system, interacts with cytoskeletal adaptors (e.g., αTAT1, RanBP2, WHAMM), and modulates both actin and microtubule-dependent dynamics to influence organelle positioning and tubular lysosome formation. It also acts as a protein acetyltransferase in mitochondria, affecting mitochondrial enzyme acetylation, energy metabolism, and cell stress responses. Knockout and disruption studies in animal models show BLOC1S1 is essential for processes such as lysosome reformation, synaptic vesicle trafficking, pigmentation, and survival, implicating its dysfunction in various organelle biogenesis and trafficking disorders. There is no evidence that BLOC1S1 is a direct therapeutic target or interacts with drugs.

Other names

BLOS1GCN5L1BORCS1RT14MICOAGCN5-like protein 1Protein RT14Protein acetyltransferase BLOC1S1GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1BLOC-1 subunit 1BORC subunit 1MTA1-interacting coactivator