Recombinant Human Biogenesis of lysosome-related organelles complex 1 subunit 2 (BLOC1S2)

Uniprot Id

Q6QNY1

Target Species

Human

Target Name

BLOC1S2

Target Full Name

Biogenesis of lysosome-related organelles complex 1 subunit 2

Target 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. As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. May play a role in cell proliferation.

Target Subcellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Lysosome membrane.

Target Protein Families

BLOC1S2 family

Target Tissue Specificity

Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level).

Target Synonyms

Biogenesis of lysosome-related organelles complex 1 subunit 2; BL1S2_HUMAN; BLOC-1 subunit 2; Bloc1s2; BLOS2; Centrosome-associated protein; RP11 316M21.4

Target Background

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.