Tbio BLOC1S3 Biogenesis of lysosome-related organelles complex 1 subunit 3

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. Plays a role in intracellular vesicle trafficking. This gene encodes a protein that is a component of the BLOC1 multi-subunit protein complex. This complex is necessary for the biogenesis of specialized organelles of the endosomal-lysosomal system, including platelet dense granules and melanosomes. Mutations in this gene cause Hermansky-Pudlak syndrome 8, a disease characterized by lysosomal storage defects, bleeding due to platelet storage pool deficiency, and oculocutaneous albinism. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• Q6QNY0
• B2RXB8
• BLOC-1 subunit 3

Gene Name

• BLOC1S3

Ensembl ID

• ENST00000433642
• ENSP00000393840
• ENSG00000189114
• ENST00000587722
• ENSP00000468281

Symbol

• BLOS3
• RP
• HPS8
• BLOS3

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
histone modification site profile	0.72
biological process	0.66
tissue sample	0.66
transcription factor binding site profile	0.61
cell line	0.59

Protein Classes

No PANTHER Classes or DTO Classes found

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: 11.64   (req: < 5)

Gene RIFs: 4   (req: <= 3)

Antibodies: 72   (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: 11.64   (req: >= 5)

Gene RIFs: 4   (req: > 3)

Antibodies: 72   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14

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