MOUSE:BL1S3

Species (Taxon ID)	Mus musculus (Mouse). (10090)
Gene Name(s)	Bloc1s3 (synonyms: Blos3, Rp)
Protein Name(s)	Biogenesis of lysosome-related organelles complex 1 subunit 3 BLOC-1 subunit 3 Reduced pigmentation protein
External Links
UniProt	Q5U5M8
EMBL	AY515509 BK005392 AK054006 AK153811 BC025913 BC043666
CCDS	CCDS20904.1
RefSeq	NP_808360.2 XP_006539894.1 XP_006539895.1
UniGene	Mm.64557
ProteinModelPortal	Q5U5M8
BioGrid	231329
PhosphoSite	Q5U5M8
MaxQB	Q5U5M8
PaxDb	Q5U5M8
PRIDE	Q5U5M8
Ensembl	ENSMUST00000077408
GeneID	232946
KEGG	mmu:232946
UCSC	uc009fma.1
CTD	388552
MGI	MGI:2678952
eggNOG	NOG45212
GeneTree	ENSGT00390000008756
HOGENOM	HOG000060304
InParanoid	Q5U5M8
OMA	DIITSCN
OrthoDB	EOG7SFHZV
PhylomeDB	Q5U5M8
TreeFam	TF336303
Reactome	REACT_232671
NextBio	381361
PRO	PR:Q5U5M8
Proteomes	UP000000589
Bgee	Q5U5M8
Genevestigator	Q5U5M8
GO	GO:0031083 GO:0005737 GO:0005829 GO:0030133 GO:0008089 GO:0048490 GO:0007596 GO:0048066 GO:0035646 GO:0001654 GO:0032438 GO:0032402 GO:0031175 GO:0043473 GO:0030168 GO:0060155 GO:0032816 GO:0042493 GO:0033299
InterPro	IPR017245
PIRSF	PIRSF037630

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
incorrect (CACAO)	GO:0008320	protein transmembrane transporter activity	PMID:16837549^[1]	ECO:0000315	mutant phenotype evidence used in manual assertion		F		Incorrect annotation, see discussion page for explanation.	complete CACAO 2001
involved_in	GO:0048490	anterograde synaptic vesicle transport	PMID:21998198^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0035646	endosome to melanosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
involved_in	GO:0032402	melanosome transport	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
involved_in	GO:0031175	neuron projection development	PMID:19546860^[3]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0031083	BLOC-1 complex	PMID:17182842^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0030133	transport vesicle	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:Q6QNY0	C		Seeded From UniProt	complete
involved_in	GO:0008089	anterograde axonal transport	PMID:21998198^[2]	ECO:0000315	mutant phenotype evidence used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0031083	BLOC-1 complex	PMID:21873635^[5]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:2678952 PANTHER:PTN001592525 UniProtKB:Q6QNY0	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0060155	platelet dense granule organization	PMID:15265785^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048066	developmental pigmentation	PMID:7203014^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0048066	developmental pigmentation	PMID:15102850^[8]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043473	pigmentation	PMID:7089489^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043473	pigmentation	PMID:4031470^[10]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P	occurs_in:(EMAPA:18769)	Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043473	pigmentation	PMID:2513223^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043473	pigmentation	PMID:15265785^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0043473	pigmentation	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0042493	response to drug	PMID:2513223^[11]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0035646	endosome to melanosome transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0033299	secretion of lysosomal enzymes	PMID:7203014^[7]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0033299	secretion of lysosomal enzymes	PMID:7089489^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032816	positive regulation of natural killer cell activation	PMID:7089489^[9]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032438	melanosome organization	PMID:15265785^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0032402	melanosome transport	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
part_of	GO:0031083	BLOC-1 complex	PMID:15102850^[8]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0031083	BLOC-1 complex	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0030168	platelet activation	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
part_of	GO:0030133	transport vesicle	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0007596	blood coagulation	PMID:15265785^[6]	ECO:0000315	mutant phenotype evidence used in manual assertion	MGI:MGI:1857021	P		Seeded From UniProt	complete
part_of	GO:0005829	cytosol	PMID:15102850^[8]	ECO:0000314	direct assay evidence used in manual assertion		C	part_of:(EMAPA:16846)	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:15265785^[6]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
acts_upstream_of_or_within	GO:0001654	eye development	GO_REF:0000096	ECO:0000266	sequence orthology evidence used in manual assertion	UniProtKB:Q6QNY0	P		Seeded From UniProt	complete
involved_in	GO:0071806	protein transmembrane transport	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0008320	P		Seeded From UniProt	complete
part_of	GO:1904115	axon cytoplasm	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0008089	C		Seeded From UniProt	complete
involved_in	GO:0043473	pigmentation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	P		Seeded From UniProt	complete
involved_in	GO:0035646	endosome to melanosome transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	P		Seeded From UniProt	complete
involved_in	GO:0032402	melanosome transport	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	P		Seeded From UniProt	complete
part_of	GO:0031083	BLOC-1 complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	C		Seeded From UniProt	complete
involved_in	GO:0030168	platelet activation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	P		Seeded From UniProt	complete
part_of	GO:0030133	transport vesicle	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	C		Seeded From UniProt	complete
involved_in	GO:0001654	eye development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q6QNY0 ensembl:ENSP00000393840	P		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ Di Pietro, SM et al. (2006) BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol. Biol. Cell 17 4027-38 PubMed GONUTS page
↑ ^2.0 ^2.1 Larimore, J et al. (2011) The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol. Biol. Cell 22 4854-67 PubMed GONUTS page
↑ Ghiani, CA et al. (2010) The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol. Psychiatry 15 115, 204-15 PubMed GONUTS page
↑ Setty, SR et al. (2007) BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol. Biol. Cell 18 768-80 PubMed GONUTS page
↑ Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 ^6.3 ^6.4 Gwynn, B et al. (2004) Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood 104 3181-9 PubMed GONUTS page
↑ ^7.0 ^7.1 Gibb, S et al. (1981) Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet. Res. 37 95-103 PubMed GONUTS page
↑ ^8.0 ^8.1 ^8.2 Starcevic, M & Dell'Angelica, EC (2004) Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J. Biol. Chem. 279 28393-401 PubMed GONUTS page
↑ ^9.0 ^9.1 ^9.2 Orn, A et al. (1982) Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand. J. Immunol. 15 305-10 PubMed GONUTS page
↑ Ahmed, F & Shire, JG () Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL mice. J. Hered. 76 311-2 PubMed GONUTS page
↑ ^11.0 ^11.1 Ahmed, F et al. (1989) Lysosomal mutations increase susceptibility to anaesthetics. Experientia 45 1133-5 PubMed GONUTS page

[PMID:16837549-1] Di Pietro, SM et al. (2006) BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol. Biol. Cell 17 4027-38 PubMed GONUTS page

[PMID:21998198-2] 2.0 ^2.1 Larimore, J et al. (2011) The schizophrenia susceptibility factor dysbindin and its associated complex sort cargoes from cell bodies to the synapse. Mol. Biol. Cell 22 4854-67 PubMed GONUTS page

[PMID:19546860-3] Ghiani, CA et al. (2010) The dysbindin-containing complex (BLOC-1) in brain: developmental regulation, interaction with SNARE proteins and role in neurite outgrowth. Mol. Psychiatry 15 115, 204-15 PubMed GONUTS page

[PMID:17182842-4] Setty, SR et al. (2007) BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol. Biol. Cell 18 768-80 PubMed GONUTS page

[PMID:21873635-5] Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:15265785-6] 6.0 ^6.1 ^6.2 ^6.3 ^6.4 Gwynn, B et al. (2004) Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood 104 3181-9 PubMed GONUTS page

[PMID:7203014-7] 7.0 ^7.1 Gibb, S et al. (1981) Reduced pigmentation (rp), a new coat colour gene with effects on kidney lysosomal glycosidases in the mouse. Genet. Res. 37 95-103 PubMed GONUTS page

[PMID:15102850-8] 8.0 ^8.1 ^8.2 Starcevic, M & Dell'Angelica, EC (2004) Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J. Biol. Chem. 279 28393-401 PubMed GONUTS page

[PMID:7089489-9] 9.0 ^9.1 ^9.2 Orn, A et al. (1982) Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity. Scand. J. Immunol. 15 305-10 PubMed GONUTS page

[PMID:4031470-10] Ahmed, F & Shire, JG () Lysosomal mutations inhibit lipofuscinosis of the spleen in C57BL mice. J. Hered. 76 311-2 PubMed GONUTS page

[PMID:2513223-11] 11.0 ^11.1 Ahmed, F et al. (1989) Lysosomal mutations increase susceptibility to anaesthetics. Experientia 45 1133-5 PubMed GONUTS page

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MOUSE:BL1S3

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