biogenesis of lysosomal organelles complex-1, subunit 2

Symbol

BLOC1S2 (may also be known as: None)

Organism

Human

Description

This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]

Orthologs

Symbol	Species
blos-2	Caenorhabditis elegans
blos2	Drosophila melanogaster
zgc:111974	Danio rerio
Bloc1s2	Mus musculus
Bloc1s2	Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier	Name	Type	Tissues	Organism	Gene	Data	Actions
DAA2684	Hypomethylation of BLOC1S2 is positively correlated with age	Molecular	blood	Human	BLOC1S2	—

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GO Terms

GO ID	GO Term	GO Category
GO:0007020	microtubule nucleation	biological_process
GO:0008284	positive regulation of cell proliferation	biological_process
GO:0032438	melanosome organization	biological_process
GO:0042981	regulation of apoptotic process	biological_process
GO:0045893	positive regulation of transcription, DNA-dependent	biological_process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	biological_process
GO:0060155	platelet dense granule organization	biological_process
GO:0000930	gamma-tubulin complex	cellular_component
GO:0005634	nucleus	cellular_component
GO:0005737	cytoplasm	cellular_component
GO:0005813	centrosome	cellular_component
GO:0005856	cytoskeleton	cellular_component
GO:0031083	BLOC-1 complex	cellular_component
GO:0055037	recycling endosome	cellular_component
GO:0005515	protein binding	molecular_function
GO:0008022	protein C-terminus binding	molecular_function
GO:0043015	gamma-tubulin binding	molecular_function
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