InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Bloc1s3

Summary

InnateDB Protein

IDBP-150917.6

Last Modified

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

Gene Symbol

Bloc1s3

Protein Name

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

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000076624

InnateDB Gene

IDBG-150915 (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:16760431, ECO:0000269PubMed:19546860, ECO:0000269PubMed:21998198}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:15265785}.

Disease Associations

Note=Defects in Bloc1s3 are the cause of the reduced pigmentation (rp) mutation phenotype, a mouse model for human Hermansky-Pudlak syndrome (HPS). Rp mice are characterized by abnormal melanosomes and display altered expression levels of the proteins of the BLOC-1 complex.

Tissue Specificity

Ubiquitously expressed. {ECO:0000269PubMed:15265785}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0001654	eye development
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