BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)

Gene

• Entrez ID: 2647
• Gene name: Biogenesis of lysosomal organelles complex 1 subunit 1
• Gene symbol: BLOC1S1
• Synonyms: BLOS1, BORCS1, GCN5L1, MICoA, RT14
• Chromosome: 12
• Chromosome location: 12q13.2
• Summary: 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 De

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT821980	hsa-let-7a	CLIP-seq
MIRT821981	hsa-let-7b	CLIP-seq
MIRT821982	hsa-let-7c	CLIP-seq
MIRT821983	hsa-let-7d	CLIP-seq
MIRT821984	hsa-let-7e	CLIP-seq
MIRT821985	hsa-let-7f	CLIP-seq
MIRT821986	hsa-let-7g	CLIP-seq
MIRT821987	hsa-let-7i	CLIP-seq
MIRT821988	hsa-miR-1294	CLIP-seq
MIRT821989	hsa-miR-1470	CLIP-seq
MIRT821990	hsa-miR-202	CLIP-seq
MIRT821991	hsa-miR-3621	CLIP-seq
MIRT821992	hsa-miR-3656	CLIP-seq
MIRT821993	hsa-miR-3667-3p	CLIP-seq
MIRT821994	hsa-miR-3679-3p	CLIP-seq
MIRT821995	hsa-miR-3922-5p	CLIP-seq
MIRT821996	hsa-miR-4266	CLIP-seq
MIRT821997	hsa-miR-4272	CLIP-seq
MIRT821998	hsa-miR-4458	CLIP-seq
MIRT821999	hsa-miR-4469	CLIP-seq
MIRT822000	hsa-miR-4500	CLIP-seq
MIRT822001	hsa-miR-4667-3p	CLIP-seq
MIRT822002	hsa-miR-4695-5p	CLIP-seq
MIRT822003	hsa-miR-4710	CLIP-seq
MIRT822004	hsa-miR-4734	CLIP-seq
MIRT822005	hsa-miR-4779	CLIP-seq
MIRT822006	hsa-miR-98	CLIP-seq
MIRT821980	hsa-let-7a	CLIP-seq
MIRT821981	hsa-let-7b	CLIP-seq
MIRT821982	hsa-let-7c	CLIP-seq
MIRT821983	hsa-let-7d	CLIP-seq
MIRT821984	hsa-let-7e	CLIP-seq
MIRT821985	hsa-let-7f	CLIP-seq
MIRT821986	hsa-let-7g	CLIP-seq
MIRT821987	hsa-let-7i	CLIP-seq
MIRT821988	hsa-miR-1294	CLIP-seq
MIRT821990	hsa-miR-202	CLIP-seq
MIRT821991	hsa-miR-3621	CLIP-seq
MIRT821992	hsa-miR-3656	CLIP-seq
MIRT821994	hsa-miR-3679-3p	CLIP-seq
MIRT821996	hsa-miR-4266	CLIP-seq
MIRT821998	hsa-miR-4458	CLIP-seq
MIRT822000	hsa-miR-4500	CLIP-seq
MIRT822002	hsa-miR-4695-5p	CLIP-seq
MIRT822003	hsa-miR-4710	CLIP-seq
MIRT822004	hsa-miR-4734	CLIP-seq
MIRT822005	hsa-miR-4779	CLIP-seq
MIRT822006	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15102850, 22203680, 22309213, 25416956, 25898167, 32296183
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005758	Component	Mitochondrial intermembrane space	IDA	22309213
GO:0005759	Component	Mitochondrial matrix	IDA	22309213
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005829	Component	Cytosol	IDA	22309213
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0009060	Process	Aerobic respiration	IMP	22309213
GO:0016197	Process	Endosomal transport	IBA	21873635
GO:0018394	Process	Peptidyl-lysine acetylation	IMP	22309213
GO:0031083	Component	BLOC-1 complex	IBA	21873635
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 22203680
GO:0031175	Process	Neuron projection development	ISS
GO:0032418	Process	Lysosome localization	IMP	25898167
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0060155	Process	Platelet dense granule organization	NAS	15102850
GO:0099078	Component	BORC complex	IDA	25898167
GO:1904115	Component	Axon cytoplasm	IEA

Other IDs

• MIM: 601444
• HGNC: 4200
• e!Ensembl: ENSG00000135441

Protein

• UniProt ID: P78537
• Protein name: Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC-1 subunit 1) (GCN5-like protein 1) (Protein RT14) (Protein acetyltransferase BLOC1S1) (EC 2.3.1.-)
• Protein function: 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:17182842). In concert with the AP-3 complex, the BLOC-1 complex is re
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06320	GCN5L1	33 → 146	GCN5-like protein 1 (GCN5L1)	Family

• Sequence:

  MAPGSRGERSSFRSRRGPGVPSPQPDVTMLSRLLKEHQAKQNERKELQEKRRREAITAAT
  CLTEALVDHLNVGVAQAYMNQRKLDHEVKTLQVQAAQFAKQTGQWIGMVENFNQALKEIG
  DVENWARSIELDMRTIATALEYVYKGQLQSAPS

• Sequence length: 153

Pathways

Reactome:

Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25568125