BLOC1S3 - biogenesis of lysosomal organelles complex 1 subunit 3 Gene

Also Known as RP; HPS8; BLOS3

Species: Homo sapiens (human)

Gene Type: protein coding
Gene ID: 388552

Summary

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]

BLOC1S3 Products (1)

mRNA Protein Name
XR_007066812.1

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
15102850 GOA
Biological Process GO Annotation Evidence Verweise Source
involved in endosome to melanosome transport IDA
IDA: Inferred from direct assay
17182842 GOA
involved in eye development IMP
IMP: Inferred from mutant phenotype
16385460 GOA
involved in melanosome transport IDA
IDA: Inferred from direct assay
17182842 GOA
involved in pigmentation IMP
IMP: Inferred from mutant phenotype
16385460 GOA
involved in platelet activation IMP
IMP: Inferred from mutant phenotype
16385460 GOA
Cellular Component GO Annotation Evidence Verweise Source
part of BLOC-1 complex IDA
IDA: Inferred from direct assay
15102850 GOA
part of BLOC-1 complex IPI
IPI: Inferred from physical interaction
22203680 GOA
located in transport vesicle IDA
IDA: Inferred from direct assay
17182842 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

biogenesis of lysosome-related organelles complex 1 subunit 3

  • BLOC-1 subunit 3

  • biogenesis of lysosome-related organelles complex-1, subunit 3

  • reduced pigmentation, mouse, homolog of

BLOC1S3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
BLOC1S3 Q6QNY0 BLOC1S2 Homo sapiens Q6QNY1
Anti Bait CoIP
15102850
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS29516 BLOC1S3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown