BLOC1S3 - biogenesis of lysosomal organelles complex 1 subunit 3 Gene

Homo sapiens (human)

Also known as RP; HPS8; BLOS3

Gene ID: 388552 | Gene type: protein coding

About BLOC1S3

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	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	15102850	GOA

Biological Process GO Annotation	Evidence	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	BLOC1S3	Q6QNY0	BLOC1S2	Homo sapiens	Q6QNY1	Anti Bait CoIP	15102850

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Agents

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01523	BLOC1S1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01524	BLOC1S2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS01525	BLOC1S6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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