Tbio BLOC1S6 Biogenesis of lysosome-related organelles complex 1 subunit 6

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. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]

Uniprot Accession IDs

• Q9UL45
• BLOC-1 subunit 6

Gene Name

• BLOC1S6

Ensembl ID

• ENST00000220531
• ENSP00000220531
• ENSG00000104164
• ENST00000567523
• ENSP00000456624

Symbol

• PA
• PLDN
• PA
• HPS9
• PLDN
• BLOS6
• PALLID

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor perturbation	0.88
transcription factor binding site profile	0.83
cellular component	0.82
histone modification site profile	0.81
microRNA	0.77

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: 62.72   (req: < 5)

Gene RIFs: 5   (req: <= 3)

Antibodies: 173   (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: 62.72   (req: >= 5)

Gene RIFs: 5   (req: > 3)

Antibodies: 173   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12

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