BLOC1S3 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of BLOC1S3 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of BLOC1S3 at tissue level.

III. Associated gene sets

GO_0035646Biological processendosome to melanosome transport
GO_0031175Biological processneuron projection development
GO_0008089Biological processanterograde axonal transport
GO_0033299Biological processsecretion of lysosomal enzymes
GO_0032438Biological processmelanosome organization
GO_0032402Biological processmelanosome transport
GO_0001654Biological processeye development
GO_0030168Biological processplatelet activation
GO_0048490Biological processanterograde synaptic vesicle transport
GO_0060155Biological processplatelet dense granule organization
GO_0032816Biological processpositive regulation of natural killer cell activation
GO_0043473Biological processpigmentation
GO_0009410Biological processresponse to xenobiotic stimulus
GO_0071806Biological processprotein transmembrane transport
GO_0005829Cellular componentcytosol
GO_0031083Cellular componentBLOC-1 complex
GO_0030133Cellular componenttransport vesicle
GO_1904115Cellular componentaxon cytoplasm
GO_0008320Molecular functionprotein transmembrane transporter activity
GO_0003674Molecular functionmolecular_function
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameBLOC1S3
Protein nameBiogenesis of lysosome-related organelles complex 1 subunit 3 (BLOC-1 subunit 3)
Biogenesis of lysosome-related organelles complex 1 subunit 3
SynonymsBLOS3
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. Plays a role in intracellular vesicle trafficking. .

AccessionsENST00000592910.1
ENST00000587722.1
ENST00000433642.3
Q6QNY0
K7EN58