InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BLOC1S3

Summary

InnateDB Protein

IDBP-381814.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BLOC1S3

Protein Name

biogenesis of lysosomal organelles complex-1, subunit 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000393840

InnateDB Gene

IDBG-57190 (BLOC1S3)

Protein Structure

UniProt Annotation

Function

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. {ECO:0000269PubMed:16385460, ECO:0000269PubMed:17182842}.

Subcellular Localization

Cytoplasm {ECO:0000250}.

Disease Associations

Hermansky-Pudlak syndrome 8 (HPS8) [MIM:614077]: A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269PubMed:16385460}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 8 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	8 [view]
Protein-Protein	8 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005515	protein binding

Biological Process

GO:0001654	eye development
GO:0006892	post-Golgi vesicle-mediated transport
GO:0007596	blood coagulation
GO:0008089	anterograde axon cargo transport
GO:0030168	platelet activation
GO:0031175	neuron projection development
GO:0032402	melanosome transport
GO:0032438	melanosome organization
GO:0032816	positive regulation of natural killer cell activation
GO:0033299	secretion of lysosomal enzymes
GO:0035646	endosome to melanosome transport
GO:0042493	response to drug
GO:0043473	pigmentation
GO:0048066	developmental pigmentation
GO:0048490	anterograde synaptic vesicle transport
GO:0060155	platelet dense granule organization
GO:0061024	membrane organization