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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55330
Gene name	Biogenesis of lysosomal organelles complex 1 subunit 4
Gene symbol	BLOC1S4
Synonyms (NCBI Gene)	BCAS4LBLOS4CNO
Chromosome	4
Chromosome location	4p16.1
Summary	This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related o

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048016	hsa-miR-30c-5p	CLASH	23622248
MIRT559216	hsa-miR-8485	HITS-CLIP	21572407
MIRT559217	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT559215	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT559214	hsa-miR-603	HITS-CLIP	21572407
MIRT559212	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT559213	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT559211	hsa-miR-3941	HITS-CLIP	21572407
MIRT256184	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT559210	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT559218	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559216	hsa-miR-8485	HITS-CLIP	23824327
MIRT559217	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT559215	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT559214	hsa-miR-603	HITS-CLIP	23824327
MIRT559212	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT626345	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT626344	hsa-miR-4307	HITS-CLIP	23824327
MIRT559211	hsa-miR-3941	HITS-CLIP	23824327
MIRT559216	hsa-miR-8485	HITS-CLIP	23824327
MIRT559217	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT559215	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT559214	hsa-miR-603	HITS-CLIP	23824327
MIRT559212	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT626345	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT559213	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT626344	hsa-miR-4307	HITS-CLIP	23824327
MIRT626343	hsa-miR-31-3p	HITS-CLIP	23824327
MIRT559211	hsa-miR-3941	HITS-CLIP	23824327
MIRT256184	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT559218	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT559218	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559216	hsa-miR-8485	PAR-CLIP	21572407
MIRT559217	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT559215	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT559214	hsa-miR-603	PAR-CLIP	21572407
MIRT559212	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT559213	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT559211	hsa-miR-3941	PAR-CLIP	21572407
MIRT256184	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT559210	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540488	hsa-miR-194-3p	PAR-CLIP	21572407
MIRT540487	hsa-miR-1273g-3p	PAR-CLIP	21572407
MIRT540486	hsa-miR-5186	PAR-CLIP	21572407
MIRT540485	hsa-miR-6087	PAR-CLIP	21572407
MIRT540484	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT540482	hsa-miR-4252	PAR-CLIP	21572407
MIRT540483	hsa-miR-4327	PAR-CLIP	21572407
MIRT540481	hsa-miR-25-5p	PAR-CLIP	21572407
MIRT540480	hsa-miR-6877-5p	PAR-CLIP	21572407
MIRT540479	hsa-miR-6781-5p	PAR-CLIP	21572407
MIRT540478	hsa-miR-455-3p	PAR-CLIP	21572407
MIRT540477	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT559216	hsa-miR-8485	HITS-CLIP	21572407
MIRT559217	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT559215	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT559214	hsa-miR-603	HITS-CLIP	21572407
MIRT559212	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT559213	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT559211	hsa-miR-3941	HITS-CLIP	21572407
MIRT256184	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT559210	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT559218	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT559216	hsa-miR-8485	HITS-CLIP	23824327
MIRT559217	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT559215	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT559214	hsa-miR-603	HITS-CLIP	23824327
MIRT559212	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT626345	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT626344	hsa-miR-4307	HITS-CLIP	23824327
MIRT559211	hsa-miR-3941	HITS-CLIP	23824327
MIRT559216	hsa-miR-8485	HITS-CLIP	23824327
MIRT559217	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT559215	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT559214	hsa-miR-603	HITS-CLIP	23824327
MIRT559212	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT626345	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT559213	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT626344	hsa-miR-4307	HITS-CLIP	23824327
MIRT626343	hsa-miR-31-3p	HITS-CLIP	23824327
MIRT559211	hsa-miR-3941	HITS-CLIP	23824327
MIRT256184	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT559218	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT559218	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT559216	hsa-miR-8485	PAR-CLIP	21572407
MIRT559217	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT559215	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT559214	hsa-miR-603	PAR-CLIP	21572407
MIRT559212	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT559213	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT559211	hsa-miR-3941	PAR-CLIP	21572407
MIRT256184	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT559210	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT540488	hsa-miR-194-3p	PAR-CLIP	21572407
MIRT540487	hsa-miR-1273g-3p	PAR-CLIP	21572407
MIRT540486	hsa-miR-5186	PAR-CLIP	21572407
MIRT540485	hsa-miR-6087	PAR-CLIP	21572407
MIRT540484	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT540482	hsa-miR-4252	PAR-CLIP	21572407
MIRT540483	hsa-miR-4327	PAR-CLIP	21572407
MIRT540481	hsa-miR-25-5p	PAR-CLIP	21572407
MIRT540480	hsa-miR-6877-5p	PAR-CLIP	21572407
MIRT540479	hsa-miR-6781-5p	PAR-CLIP	21572407
MIRT540478	hsa-miR-455-3p	PAR-CLIP	21572407
MIRT540477	hsa-miR-6516-5p	PAR-CLIP	21572407

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15102850, 22203680, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	ISS
GO:0032438	Process	Melanosome organization	IEA
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:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0070527	Process	Platelet aggregation	IEA
GO:1904115	Component	Axon cytoplasm	IEA

MIM	HGNC	e!Ensembl
605695	24206	ENSG00000186222

Q9NUP1

Protein name

Biogenesis of lysosome-related organelles complex 1 subunit 4 (BLOC-1 subunit 4) (Protein cappuccino homolog)

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. In concert with the AP-3 complex, the BLOC-1 complex is required to target m

Family and domains

Sequence

MEGSFSDGGALPEGLAEEAEPQGAAWSGDSGTVSQSHSSASGPWEDEGAEDGAPGRDLPL
LRRAAAGYAACLLPGAGARPEVEALDASLEDLLTRVDEFVGMLDMLRGDSSHVVSEGVPR
IHAKAAEMRRIYSRIDRLEAFVRMVGGRVARMEEQVTKAEAELGTFPRAFKKLLHTMNVP
SLFSKSAPSRPQQAGYEAPVLFRTEDYFPCCSERPQL

Sequence length

217

Interactions

View interactions

	Reactome
			Golgi Associated Vesicle Biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LANGUAGE IMPAIRMENT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety	Anxiety Disorder	BEFREE	31494287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31494287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	11110696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	22203954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

BLOC1S4 (biogenesis of lysosomal organelles complex 1 subunit 4)