BLOC1S2 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0051036Biological processregulation of endosome size
GO_0062196Biological processregulation of lysosome size
GO_0031175Biological processneuron projection development
GO_0008089Biological processanterograde axonal transport
GO_0072384Biological processorganelle transport along microtubule
GO_0008625Biological processextrinsic apoptotic signaling pathway via death domain receptors
GO_0032438Biological processmelanosome organization
GO_0097345Biological processmitochondrial outer membrane permeabilization
GO_0048490Biological processanterograde synaptic vesicle transport
GO_0016197Biological processendosomal transport
GO_0060155Biological processplatelet dense granule organization
GO_0032418Biological processlysosome localization
GO_0099078Cellular componentBORC complex
GO_0005739Cellular componentmitochondrion
GO_0005813Cellular componentcentrosome
GO_0098574Cellular componentcytoplasmic side of lysosomal membrane
GO_0000930Cellular componentgamma-tubulin complex
GO_0005829Cellular componentcytosol
GO_0031083Cellular componentBLOC-1 complex
GO_1904115Cellular componentaxon cytoplasm
GO_0043015Molecular functiongamma-tubulin binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameBLOC1S2
Protein nameAlternative protein BLOC1S2
Biogenesis of lysosomal organelles complex 1 subunit 2
Biogenesis of lysosome-related organelles complex 1 subunit 2
Biogenesis of lysosomal organelles complex 1 subunit 2 (Biogenesis of lysosome-related organelles complex-1, subunit 2, isoform CRA_c)
Biogenesis of lysosome-related organelles complex 1 subunit 2 (BLOC-1 subunit 2) (Centrosome-associated protein)
SynonymshCG_19416
CEAP
BLOS2
DescriptionFUNCTION: 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 (By similarity). 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 . .

AccessionsA0A087X1N6
ENST00000579542.1
ENST00000614731.4 [Q6QNY1-2]
Q6QNY1
ENST00000618916.4
ENST00000441611.5 [Q6QNY1-2]
ENST00000370372.7 [Q6QNY1-1]
F1T0F0
L8E7A4
J3QRU7