BLOC1S1

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.^[5][6][7]

AliasesBLOC1S1, BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1

External IDsOMIM: 601444; MGI: 1195276; HomoloGene: 1140; GeneCards: BLOC1S1; OMA:BLOC1S1 - orthologs

Chr.Chromosome 12 (human)^[1]

End55,720,087 bp^[1]

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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)[1] Band 12q13.2 Start 55,716,038 bp[1] End 55,720,087 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 D3|10 77.19 cM Start 128,753,751 bp[2] End 128,759,904 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 dissimilation anterograde synaptic vesicle transport neuron projection development peptidyl-lysine acetylation lysosome localization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2647 14533 Ensembl ENSG00000135441 ENSMUSG00000090247 UniProt P78537 O55102 RefSeq (mRNA) NM_001487 NM_015740 RefSeq (protein) NP_001478 NP_056555 Location (UCSC) Chr 12: 55.72 – 55.72 Mb Chr 10: 128.75 – 128.76 Mb PubMed search [3] [4]
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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]^[7]