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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2647
Gene name Gene Name - the full gene name approved by the HGNC.	Biogenesis of lysosomal organelles complex 1 subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	BLOC1S1
Synonyms (NCBI Gene) Gene synonyms aliases	BLOS1, BORCS1, GCN5L1, MICoA, RT14
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q13.2
Summary Summary of gene provided in NCBI Entrez 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 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

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

Interactions

View interactions

	Reactome
			Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (2)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Leukodystrophy Metachromatic	Associate	36070637
Sepsis	Associate	37249456

BLOC1S1 (biogenesis of lysosomal organelles complex 1 subunit 1)