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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26258
Gene name	Biogenesis of lysosomal organelles complex 1 subunit 6
Gene symbol	BLOC1S6
Synonyms (NCBI Gene)	BLOS6HPS9PAPALLIDPLDN
Chromosome	15
Chromosome location	15q21.1
Summary	The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternati

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201348482	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, stop gained
rs574333116	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, intron variant
rs772475341	C>G	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs1595560288	GA>AT	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, intron variant

Show/Hide all (92)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002614	hsa-miR-124-3p	Microarray	18668037
MIRT002614	hsa-miR-124-3p	Microarray	15685193
MIRT023412	hsa-miR-30b-5p	Sequencing	20371350
MIRT027360	hsa-miR-101-3p	Sequencing	20371350
MIRT042100	hsa-miR-484	CLASH	23622248
MIRT052798	hsa-miR-3176	CLASH	23622248
MIRT719956	hsa-miR-3133	HITS-CLIP	19536157
MIRT719955	hsa-miR-186-5p	HITS-CLIP	19536157
MIRT719954	hsa-miR-105-5p	HITS-CLIP	19536157
MIRT719953	hsa-miR-7853-5p	HITS-CLIP	19536157
MIRT719952	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT719951	hsa-miR-605-3p	HITS-CLIP	19536157
MIRT660259	hsa-miR-2392	HITS-CLIP	23824327
MIRT660258	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT660257	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT660256	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT660255	hsa-miR-1193	HITS-CLIP	23824327
MIRT660254	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT660253	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT660252	hsa-miR-548s	HITS-CLIP	23824327
MIRT660251	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT660250	hsa-miR-588	HITS-CLIP	23824327
MIRT660249	hsa-miR-4435	HITS-CLIP	23824327
MIRT660248	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT660247	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT660246	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT559209	hsa-miR-5683	PAR-CLIP	21572407
MIRT192845	hsa-miR-3925-5p	PAR-CLIP	21572407
MIRT192844	hsa-miR-3123	PAR-CLIP	21572407
MIRT192841	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT192847	hsa-miR-3976	PAR-CLIP	21572407
MIRT192843	hsa-miR-936	PAR-CLIP	21572407
MIRT559208	hsa-miR-199a-3p	PAR-CLIP	21572407
MIRT559207	hsa-miR-199b-3p	PAR-CLIP	21572407
MIRT559206	hsa-miR-3129-5p	PAR-CLIP	21572407
MIRT559205	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT192839	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT559204	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT559203	hsa-miR-1286	PAR-CLIP	21572407
MIRT559202	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT192846	hsa-miR-3935	PAR-CLIP	21572407
MIRT559201	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT559200	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT559199	hsa-miR-636	PAR-CLIP	21572407
MIRT192838	hsa-miR-222-5p	PAR-CLIP	21572407
MIRT192848	hsa-miR-3977	PAR-CLIP	21572407
MIRT192837	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT559198	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT559197	hsa-miR-147a	PAR-CLIP	21572407
MIRT719956	hsa-miR-3133	HITS-CLIP	19536157
MIRT719955	hsa-miR-186-5p	HITS-CLIP	19536157
MIRT719954	hsa-miR-105-5p	HITS-CLIP	19536157
MIRT719953	hsa-miR-7853-5p	HITS-CLIP	19536157
MIRT719952	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT719951	hsa-miR-605-3p	HITS-CLIP	19536157
MIRT660259	hsa-miR-2392	HITS-CLIP	23824327
MIRT660258	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT660257	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT660256	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT660255	hsa-miR-1193	HITS-CLIP	23824327
MIRT660254	hsa-miR-192-5p	HITS-CLIP	23824327
MIRT660253	hsa-miR-215-5p	HITS-CLIP	23824327
MIRT660252	hsa-miR-548s	HITS-CLIP	23824327
MIRT660251	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT660250	hsa-miR-588	HITS-CLIP	23824327
MIRT660249	hsa-miR-4435	HITS-CLIP	23824327
MIRT660248	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT660247	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT660246	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT559209	hsa-miR-5683	PAR-CLIP	21572407
MIRT192845	hsa-miR-3925-5p	PAR-CLIP	21572407
MIRT192844	hsa-miR-3123	PAR-CLIP	21572407
MIRT192841	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT192847	hsa-miR-3976	PAR-CLIP	21572407
MIRT192843	hsa-miR-936	PAR-CLIP	21572407
MIRT559208	hsa-miR-199a-3p	PAR-CLIP	21572407
MIRT559207	hsa-miR-199b-3p	PAR-CLIP	21572407
MIRT559206	hsa-miR-3129-5p	PAR-CLIP	21572407
MIRT559205	hsa-miR-570-3p	PAR-CLIP	21572407
MIRT192839	hsa-miR-219a-2-3p	PAR-CLIP	21572407
MIRT559204	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT559203	hsa-miR-1286	PAR-CLIP	21572407
MIRT559202	hsa-miR-4722-5p	PAR-CLIP	21572407
MIRT192846	hsa-miR-3935	PAR-CLIP	21572407
MIRT559201	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT559200	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT559199	hsa-miR-636	PAR-CLIP	21572407
MIRT192838	hsa-miR-222-5p	PAR-CLIP	21572407
MIRT192848	hsa-miR-3977	PAR-CLIP	21572407
MIRT192837	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT559198	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT559197	hsa-miR-147a	PAR-CLIP	21572407

Show/Hide all (77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001725	Component	Stress fiber	IEA
GO:0001726	Component	Ruffle	IEA
GO:0001822	Process	Kidney development	IEA
GO:0002936	Process	Bradykinin biosynthetic process	IEA
GO:0003016	Process	Respiratory system process	IEA
GO:0003158	Process	Endothelium development	IEA
GO:0005515	Function	Protein binding	IPI	12191018, 15102850, 16189514, 19546860, 21998198, 22203680, 25416956, 29892012, 31515488, 32296183, 33961781
GO:0005737	Component	Cytoplasm	IDA	12019270, 12191018
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	IEA
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006536	Process	Glutamate metabolic process	IEA
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0006605	Process	Protein targeting	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007613	Process	Memory	IEA
GO:0008089	Process	Anterograde axonal transport	IEA
GO:0008089	Process	Anterograde axonal transport	ISS
GO:0009306	Process	Protein secretion	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014823	Process	Response to activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016081	Process	Synaptic vesicle docking	NAS	10610180
GO:0019905	Function	Syntaxin binding	TAS	10610180
GO:0021542	Process	Dentate gyrus development	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0030133	Component	Transport vesicle	IBA
GO:0030133	Component	Transport vesicle	IDA	17182842
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030324	Process	Lung development	IEA
GO:0031083	Component	BLOC-1 complex	IBA
GO:0031083	Component	BLOC-1 complex	IDA	12019270, 15102850, 17182842, 22203680
GO:0031083	Component	BLOC-1 complex	IEA
GO:0031083	Component	BLOC-1 complex	IPI	22203680
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031941	Component	Filamentous actin	IEA
GO:0032402	Process	Melanosome transport	IDA	17182842
GO:0032438	Process	Melanosome organization	NAS	15102850, 22203680
GO:0032816	Process	Positive regulation of natural killer cell activation	IEA
GO:0033299	Process	Secretion of lysosomal enzymes	IEA
GO:0033484	Process	Intracellular nitric oxide homeostasis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035646	Process	Endosome to melanosome transport	IDA	17182842
GO:0042311	Process	Vasodilation	IEA
GO:0042745	Process	Circadian sleep/wake cycle	IEA
GO:0042802	Function	Identical protein binding	IPI	15102850, 16189514, 25416956
GO:0042803	Function	Protein homodimerization activity	IDA	12019270, 12191018
GO:0043473	Process	Pigmentation	IEA
GO:0044291	Component	Cell-cell contact zone	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046085	Process	Adenosine metabolic process	IEA
GO:0046907	Process	Intracellular transport	IBA
GO:0048286	Process	Lung alveolus development	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	IEA
GO:0048490	Process	Anterograde synaptic vesicle transport	ISS
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050942	Process	Positive regulation of pigment cell differentiation	IDA	17182842
GO:0051015	Function	Actin filament binding	IDA	12019270
GO:0051017	Process	Actin filament bundle assembly	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0061025	Process	Membrane fusion	IEA
GO:0070938	Component	Contractile ring	IEA
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
GO:0071806	Process	Protein transmembrane transport	IEA
GO:0098793	Component	Presynapse	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:1905144	Process	Response to acetylcholine	IEA
GO:1990742	Component	Microvesicle	IEA

MIM	HGNC	e!Ensembl
604310	8549	ENSG00000104164

Q9UL45

Protein name

Biogenesis of lysosome-related organelles complex 1 subunit 6 (BLOC-1 subunit 6) (Pallid protein homolog) (Pallidin) (Syntaxin 13-interacting protein)

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

Pfam

Accession	ID	Position in sequence	Description	Type
PF14712	Snapin_Pallidin	50 → 140	Snapin/Pallidin	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12019270, ECO:0000269|PubMed:12191018}.

Sequence

MSVPGPSSPDGALTRPPYCLEAGEPTPGLSDTSPDEGLIEDLTIEDKAVEQLAEGLLSHY
LPDLQRSKQALQELTQNQVVLLDTLEQEISKFKECHSMLDINALFAEAKHYHAKLVNIRK
EMLMLHEKTSKLKKRALKLQQKRQKEELEREQQREKEFEREKQLTARPAKRM

Sequence length

172

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hermansky-Pudlak syndrome	Pathogenic	rs201348482, rs762974622	RCV000851271 RCV005408808	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hermansky-Pudlak syndrome 9	Likely pathogenic; Pathogenic	rs1194283484, rs756480888, rs1894328064, rs2542270996, rs2542261623, rs2542261887, rs2542297010, rs2542271252, rs1227395094, rs2542292733, rs2542292506, rs749555560, rs2542261519, rs2542271399, rs201348482 View all (3 more)	RCV003104911 RCV002638614 RCV002663436 RCV002672101 RCV003340734 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

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.
Autoinflammatory syndrome	Benign; Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BLOC1S6-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKI-PUDLAK SYNDROME	—	CTD, Disgenet CTD, 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
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Albinism	Albinism	BEFREE	21665000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	35488210, 39457042	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	32245340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital nystagmus	Congenital nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	21665000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HERMANSKY-PUDLAK SYNDROME 9	Hermansky-Pudlak Syndrome	ORPHANET_DG	21665000		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 9	Hermansky-Pudlak Syndrome	GENOMICS_ENGLAND_DG	21665000, 22461475, 29054114		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 9	Hermansky-Pudlak Syndrome	CLINVAR_DG	21665000, 22461475, 26575419		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HERMANSKY-PUDLAK SYNDROME 9	Hermansky-Pudlak Syndrome	BEFREE	28075530		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hermansky-Pudlak syndrome type 9	Hermansky-Pudlak Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	1284644, 28075530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23563589, 28035416		★★★★★ ★☆☆☆☆ Found in Text Mining only

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)