Tbio BLOC1S1 Biogenesis of lysosome-related organelles complex 1 subunit 1

Protein Summary

Description

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. 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]

Uniprot Accession IDs

• P78537
• A1L4Q9
• Q6NZ45
• BLOC-1 subunit 1

Gene Name

• BLOC1S1

Ensembl ID

• ENST00000548925
• ENSP00000447537
• ENSG00000135441

Symbol

• BLOS1
• GCN5L1
• RT14
• RT14
• BLOS1
• MICoA
• BORCS1
• GCN5L1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
disease perturbation	0.87
cellular component	0.78
interacting protein	0.75
transcription factor binding site profile	0.72
transcription factor	0.69

Protein Classes

PANTHER Classes

Protein / Transcription Factor / Biogenesis Of Lysosome-related Organelles Complex 1 Subunit 1

DTO Classes

Protein / Transcription Factor / Biogenesis Of Lysosome-related Organelles Complex 1 Subunit 1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 37.92   (req: < 5)

Gene RIFs: 17   (req: <= 3)

Antibodies: 78   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 37.92   (req: >= 5)

Gene RIFs: 17   (req: > 3)

Antibodies: 78   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 9

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0