InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BLOC1S2

Summary

InnateDB Protein

IDBP-384369.5

Last Modified

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

Gene Symbol

BLOC1S2

Protein Name

biogenesis of lysosomal organelles complex-1, subunit 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000410865

InnateDB Gene

IDBG-86384 (BLOC1S2)

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. May play a role in cell proliferation. {ECO:0000269PubMed:15102850, ECO:0000269PubMed:15381421, ECO:0000269PubMed:17182842}.

Subcellular Localization

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269PubMed:15381421}. Note=Localizes to the centrosomes in a microtubule-dependent manner.

Disease Associations

Tissue Specificity

Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). {ECO:0000269PubMed:15381421}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 30 experimentally validated interaction(s) in this database.

Experimentally validated
Total	30 [view]
Protein-Protein	30 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0043015	gamma-tubulin binding

Biological Process

GO:0007020	microtubule nucleation
GO:0008089	anterograde axon cargo transport
GO:0008284	positive regulation of cell proliferation
GO:0008625	extrinsic apoptotic signaling pathway via death domain receptors
GO:0031175	neuron projection development
GO:0032438	melanosome organization
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048490	anterograde synaptic vesicle transport
GO:0060155	platelet dense granule organization
GO:0097345	mitochondrial outer membrane permeabilization