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

179

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hermansky-Pudlak syndrome	Pathogenic	rs201348482, rs762974622	RCV000851271 RCV005408808
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 RCV003528924 RCV003529146 RCV003529637 RCV003529601 RCV003529724 RCV003641244 RCV003641657 RCV003641650 RCV003640740 RCV003844921 RCV000023365 RCV001027538 RCV001027539 RCV003528286

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Autoinflammatory syndrome	Benign; Uncertain significance	rs373061008, rs775510569	RCV002264375 RCV002264021
BLOC1S6-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	rs2140918991, rs773122559, rs772841770, rs370370639, rs150470765, rs114872740	RCV003401943 RCV003427956 RCV003971934 RCV003930359 RCV003958244 RCV003950825
Familial cancer of breast	Benign	rs373061008	RCV005870032
Malignant lymphoma, large B-cell, diffuse	Benign	rs373061008	RCV005870034
Malignant tumor of esophagus	Benign	rs373061008	RCV005870033

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albinism	Associate	35488210, 39457042
Blood Platelet Disorders	Associate	32245340
Hermanski Pudlak Syndrome	Associate	21665000, 32245340, 34608437, 39187771
Platelet Storage Pool Deficiency	Associate	32245340

BLOC1S6 (biogenesis of lysosomal organelles complex 1 subunit 6)