BLOC1S2

Entrez Summary: N/A
UniProt Summary: 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 (PubMed:15102850, PubMed:17182842). 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 (PubMed:25898167). May play a role in cell proliferation (PubMed:15381421). {ECO:0000250|UniProtKB:Q9CWG9, ECO:0000269|PubMed:15102850, ECO:0000269|PubMed:15381421, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:25898167}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/739

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/28
bone	0/26
breast	0/33
central nervous system	0/56
cervix	0/4
colorectal	0/17
esophagus	0/13
fibroblast	0/1
gastric	0/16
kidney	0/21
liver	0/20
lung	0/75
lymphocyte	0/16
ovary	0/26
pancreas	0/24
peripheral nervous system	0/16
plasma cell	0/15
prostate	0/1
skin	0/24
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/29
uterus	0/5

Expression Distribution

platelet dense granule organization
BORC complex
mitochondrial outer membrane permeabilization
gamma-tubulin complex
synaptic vesicle transport along microtubule
synaptic vesicle cytoskeletal transport
anterograde synaptic vesicle transport
positive regulation of mitochondrial membrane permeability involved in apoptotic process
BLOC-1 complex
mitochondrial outer membrane permeabilization involved in programmed cell death
positive regulation of mitochondrial membrane permeability
positive regulation of membrane permeability
regulation of mitochondrial membrane permeability involved in apoptotic process
melanosome organization
pigment granule organization
gamma-tubulin binding
extrinsic apoptotic signaling pathway via death domain receptors
secretory granule organization
synaptic vesicle transport
synaptic vesicle localization
vesicle transport along microtubule
anterograde axonal transport
lysosome localization
cellular pigmentation
vesicle cytoskeletal trafficking
axonal transport
axon cytoplasm
apoptotic mitochondrial changes
axo-dendritic transport
regulation of mitochondrial membrane permeability
organelle transport along microtubule
regulation of membrane permeability
pigmentation
extrinsic apoptotic signaling pathway
mitochondrial membrane organization
transport along microtubule
establishment of vesicle localization
cytoskeleton-dependent intracellular transport
microtubule-based transport
vesicle localization