BLOC1S1

BLOC1S1
Identifiers
Aliases	BLOC1S1, BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
External IDs	OMIM: 601444; MGI: 1195276; HomoloGene: 1140; GeneCards: BLOC1S1; OMA:BLOC1S1 - orthologs
Gene location (Human)
Chr.	Chromosome 12 (human)
End	55,720,087 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	128,759,904 bp
RNA expression pattern
	Top expressed in
	mucosa of transverse colon; ; C1 segment; ; substantia nigra; ; Amygdala; ; putamen; ; hippocampus proper; ; granulocyte; ; muscle of thigh; ; prefrontal cortex; ; caudate nucleus;
	Top expressed in
	white adipose tissue; ; urinary bladder; ; adrenal gland; ; proximal tubule; ; right kidney; ; muscle tissue; ; quadriceps femoris muscle; ; skeletal muscle tissue; ; human kidney; ; yolk sac;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	cytoplasm; cytosol; BLOC-1 complex; mitochondrial intermembrane space; mitochondrial matrix; mitochondrion; extracellular exosome; axon cytoplasm; extracellular space; lysosome; lysosomal membrane; membrane; BORC complex;
Biological process	platelet dense granule organization; anterograde axonal transport; endosomal transport; melanosome organization; aerobic respiration; anterograde synaptic vesicle transport; neuron projection development; peptidyl-lysine acetylation; lysosome localization;
	Sources:Amigo / QuickGO
Orthologs
	2647
	14533
	ENSG00000135441
	ENSMUSG00000090247
	P78537
	O55102
	NM_001487
	NM_015740
	NP_001478
	NP_056555
	Wikidata
View/Edit Human	View/Edit Mouse

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004).[supplied by OMIM]