Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways
Entrez ID	2647
Gene name	Biogenesis of lysosomal organelles complex 1 subunit 1
Gene symbol	BLOC1S1
Synonyms (NCBI Gene)	BLOS1BORCS1GCN5L1MICoART14
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

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miRTarBase ID	miRNA	Experiments
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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15102850, 22203680, 22309213, 25416956, 25898167, 32296183, 33961781
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	22309213
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	22309213
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS
GO:0005769	Component	Early endosome	IEA
GO:0005829	Component	Cytosol	IDA	22309213
GO:0005829	Component	Cytosol	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0009060	Process	Aerobic respiration	IMP	22309213
GO:0016020	Component	Membrane	IEA
GO:0016197	Process	Endosomal transport	IBA
GO:0016740	Function	Transferase activity	IEA
GO:0018394	Process	Peptidyl-lysine acetylation	IMP	22309213
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	ISS
GO:0032418	Process	Lysosome localization	IMP	25898167
GO:0032418	Process	Lysosome localization	NAS	25898167
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0051036	Process	Regulation of endosome size	NAS	31314175
GO:0060155	Process	Platelet dense granule organization	NAS	15102850
GO:0061733	Function	Protein-lysine-acetyltransferase activity	IMP	38281616
GO:0062196	Process	Regulation of lysosome size	NAS	31314175
GO:0072384	Process	Organelle transport along microtubule	NAS	25898167
GO:0098574	Component	Cytoplasmic side of lysosomal membrane	NAS	25898167
GO:0099078	Component	BORC complex	IDA	25898167
GO:0099078	Component	BORC complex	IPI	25898167
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
601444	4200	ENSG00000135441

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

Interactions

View interactions

	Reactome
			Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)