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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	63915
Gene name	Biogenesis of lysosomal organelles complex 1 subunit 5
Gene symbol	BLOC1S5
Synonyms (NCBI Gene)	BLOS5HPS11MUMUTED
Chromosome	6
Chromosome location	6p24.3
Summary	This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Synd

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025619	hsa-miR-10a-5p	Sequencing	20371350
MIRT029139	hsa-miR-26b-5p	Microarray	19088304
MIRT660270	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT660269	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT660268	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT660267	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT660266	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT660265	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT660264	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT660263	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT660262	hsa-miR-3926	HITS-CLIP	19536157
MIRT660261	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT660260	hsa-miR-548s	HITS-CLIP	19536157
MIRT660285	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660284	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660283	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT660282	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT660281	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT660280	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660279	hsa-miR-4287	HITS-CLIP	23824327
MIRT660278	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660277	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT660276	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT660275	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT660274	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT660273	hsa-miR-4477b	HITS-CLIP	23824327
MIRT660272	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT660271	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT660285	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660284	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660283	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT660282	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT660281	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT660280	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660279	hsa-miR-4287	HITS-CLIP	23824327
MIRT660278	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660277	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT660276	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT660275	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT660274	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT660273	hsa-miR-4477b	HITS-CLIP	23824327
MIRT660272	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT660271	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT660270	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT660269	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660268	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT660267	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT660266	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT660265	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT660264	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT660263	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT660262	hsa-miR-3926	HITS-CLIP	23824327
MIRT660261	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT660260	hsa-miR-548s	HITS-CLIP	23824327
MIRT440171	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440171	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT660270	hsa-miR-6771-3p	HITS-CLIP	19536157
MIRT660269	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT660268	hsa-miR-3127-3p	HITS-CLIP	19536157
MIRT660267	hsa-miR-6756-3p	HITS-CLIP	19536157
MIRT660266	hsa-miR-5088-3p	HITS-CLIP	19536157
MIRT660265	hsa-miR-3190-5p	HITS-CLIP	19536157
MIRT660264	hsa-miR-942-5p	HITS-CLIP	19536157
MIRT660263	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT660262	hsa-miR-3926	HITS-CLIP	19536157
MIRT660261	hsa-miR-4684-5p	HITS-CLIP	19536157
MIRT660260	hsa-miR-548s	HITS-CLIP	19536157
MIRT660285	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660284	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660283	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT660282	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT660281	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT660280	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660279	hsa-miR-4287	HITS-CLIP	23824327
MIRT660278	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660277	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT660276	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT660275	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT660274	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT660273	hsa-miR-4477b	HITS-CLIP	23824327
MIRT660272	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT660271	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT660285	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT660284	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT660283	hsa-miR-3607-5p	HITS-CLIP	23824327
MIRT660282	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT660281	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT660280	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT660279	hsa-miR-4287	HITS-CLIP	23824327
MIRT660278	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT660277	hsa-miR-124-3p	HITS-CLIP	23824327
MIRT660276	hsa-miR-506-3p	HITS-CLIP	23824327
MIRT660275	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT660274	hsa-miR-6826-3p	HITS-CLIP	23824327
MIRT660273	hsa-miR-4477b	HITS-CLIP	23824327
MIRT660272	hsa-miR-7856-5p	HITS-CLIP	23824327
MIRT660271	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT660270	hsa-miR-6771-3p	HITS-CLIP	23824327
MIRT660269	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660268	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT660267	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT660266	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT660265	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT660264	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT660263	hsa-miR-4786-5p	HITS-CLIP	23824327
MIRT660262	hsa-miR-3926	HITS-CLIP	23824327
MIRT660261	hsa-miR-4684-5p	HITS-CLIP	23824327
MIRT660260	hsa-miR-548s	HITS-CLIP	23824327

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12191018, 15102850, 22203680, 25416956, 32296183, 33961781
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030133	Component	Transport vesicle	IDA	17182842
GO:0030133	Component	Transport vesicle	IEA
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	15102850, 17182842, 22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	ISS
GO:0032402	Process	Melanosome transport	IDA	17182842
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0032474	Process	Otolith morphogenesis	IEA
GO:0035646	Process	Endosome to melanosome transport	IDA	17182842
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0050942	Process	Positive regulation of pigment cell differentiation	IDA	17182842
GO:1904115	Component	Axon cytoplasm	IEA
GO:1990742	Component	Microvesicle	IEA

MIM	HGNC	e!Ensembl
607289	18561	ENSG00000188428

Q8TDH9

Protein name

Biogenesis of lysosome-related organelles complex 1 subunit 5 (BLOC-1 subunit 5) (Protein Muted 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 (PubMed:32565547). In concert with the AP-3 complex, the BLOC-1 complex is re

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14942	Muted	36 → 181	Organelle biogenesis, Muted-like protein	Family

Sequence

MSGGGTETPVGCEAAPGGGSKKRDSLGTAGSAHLIIKDLGEIHSRLLDHRPVIQGETRYF
VKEFEEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQ
QREQERKKIHSDHLVASEKQHMLQWDNFMKEQPNKRAEVDEEHRKAMERLKEQYAEMEKD
LAKFSTF

Sequence length

187

Interactions

View interactions

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 Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
BLOC1S5-related disorder	Likely pathogenic	rs764780126	RCV003391332	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome	Pathogenic	rs1763106978	RCV001260551	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome 11	Likely pathogenic; Pathogenic	rs1757380540, rs1757381494, rs2480776581, rs1763106978	RCV003225915 RCV003990246 RCV004555314 RCV001290298	★★★★★ ★★★★☆ 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.
HERMANSKI-PUDLAK SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME DUE TO BLOC-1 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	25673877	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17618940	★★★★★ ★☆☆☆☆ Found in Text Mining only

BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5)