Gene name: BLOC1S1

Uniprot entry:

P78537

Protein names:

Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC-1 subunit 1) (GCN5-like protein 1) (Protein RT14)

Protein sequence:

1_MAPGS 6_ RGERS 11_ SFRSR 16_ RGPGV 21_ PSPQP 26_ DVTML 31_ SRLLK 36_ EHQAK 41_ QNERK 46_ ELQEK 51_ RRREA 56_ ITAAT 61_ CLTEA 66_ LVDHL 71_ NVGVA 76_ QAYMN 81_ QRKLD 86_ HEVKT 91_ LQVQA 96_ AQFAK 101_ QTGQW 106_ IGMVE 111_ NFNQA 116_ LKEIG 121_ DVENW 126_ ARSIE 131_ LDMRT 136_ IATAL 141_ EYVYK 146_GQLQS

Protein annotations

Protein functions:

1: 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 (PubMed:17182842). 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 (PubMed:17182842). 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 (PubMed:25898167). 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)

2: Acts as a protein acetyltransferase (PubMed:22309213, PubMed:38281616). Negatively regulates aerobic respiration through mitochondrial protein lysine-acetylation (PubMed:22309213). May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5F1A and NDUFA9 (PubMed:22309213). Acts as a regulator of mTORC2 signaling in response to hypotoxic stress by mediating acetylation of RICTOR, thereby protecting RICTOR against ubiquitination and subsequent degradation by the proteasome (PubMed:38281616)