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HUMAN:BL1S3

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) BLOC1S3 (synonyms: BLOS3)
Protein Name(s) Biogenesis of lysosome-related organelles complex 1 subunit 3

BLOC-1 subunit 3

External Links
UniProt Q6QNY0
EMBL AY531266
AK296695
BC151151
BC151152
CCDS CCDS12656.1
RefSeq NP_997715.1
UniGene Hs.103902
ProteinModelPortal Q6QNY0
BioGrid 132736
IntAct Q6QNY0
STRING 9606.ENSP00000343089
PhosphoSite Q6QNY0
DMDM 74749299
MaxQB Q6QNY0
PaxDb Q6QNY0
PRIDE Q6QNY0
Ensembl ENST00000433642
ENST00000587722
GeneID 388552
KEGG hsa:388552
UCSC uc002pax.4
CTD 388552
GeneCards GC19P045682
GeneReviews BLOC1S3
HGNC HGNC:20914
MIM 609762
614077
neXtProt NX_Q6QNY0
Orphanet 231537
PharmGKB PA134884924
eggNOG NOG45212
GeneTree ENSGT00390000008756
HOGENOM HOG000060304
InParanoid Q6QNY0
OMA DIITSCN
OrthoDB EOG7SFHZV
PhylomeDB Q6QNY0
TreeFam TF336303
Reactome REACT_19400
GenomeRNAi 388552
NextBio 102134
PRO PR:Q6QNY0
Proteomes UP000005640
Bgee Q6QNY0
CleanEx HS_BLOC1S3
ExpressionAtlas Q6QNY0
Genevestigator Q6QNY0
GO GO:0031083
GO:0005829
GO:0030133
GO:0008089
GO:0048490
GO:0035646
GO:0001654
GO:0032438
GO:0032402
GO:0061024
GO:0031175
GO:0043473
GO:0030168
GO:0060155
GO:0032816
GO:0006892
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

involved_in

GO:0060155

platelet dense granule organization

PMID:15102850[1]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048490

anterograde synaptic vesicle transport

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q5U5M8

P

Seeded From UniProt

complete

involved_in

GO:0043473

pigmentation

PMID:16385460[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0035646

endosome to melanosome transport

PMID:17182842[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032438

melanosome organization

PMID:22203680[4]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032438

melanosome organization

PMID:15102850[1]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032402

melanosome transport

PMID:17182842[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0031175

neuron projection development

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q5U5M8

P

Seeded From UniProt

complete

part_of

GO:0031083

BLOC-1 complex

PMID:22203680[4]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0031083

BLOC-1 complex

PMID:17182842[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0031083

BLOC-1 complex

PMID:15102850[1]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0030168

platelet activation

PMID:16385460[2]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0030133

transport vesicle

PMID:17182842[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0008089

anterograde axonal transport

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q5U5M8

P

Seeded From UniProt

complete

enables

GO:0003674

molecular_function

GO_REF:0000015

ECO:0000307

no biological data found used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0001654

eye development

PMID:16385460[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

involved_in

GO:0071806

protein transmembrane transport

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic 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

part_of

GO:1904115

axon cytoplasm

GO_REF:0000108

ECO:0000366

evidence based on logical inference from automatic annotation used in automatic assertion

GO:0048490

C

Seeded From UniProt

complete

involved_in

GO:0060155

platelet dense granule organization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0048490

anterograde synaptic vesicle transport

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0048066

developmental pigmentation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0043473

pigmentation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0042493

response to drug

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0033299

secretion of lysosomal enzymes

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0032816

positive regulation of natural killer cell activation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0032438

melanosome organization

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

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:Q5U5M8
ensembl:ENSMUSP00000076624

C

Seeded From UniProt

complete

enables

GO:0008320

protein transmembrane transporter activity

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

F

Seeded From UniProt

complete

involved_in

GO:0008089

anterograde axonal transport

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

involved_in

GO:0007596

blood coagulation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q5U5M8
ensembl:ENSMUSP00000076624

C

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

Reactome:R-HSA-429815

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

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

edit table

Notes

References

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

  1. ↑ 1.0 1.1 1.2 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
  2. ↑ 2.0 2.1 2.2 Morgan, NV et al. (2006) A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am. J. Hum. Genet. 78 160-6 PubMed GONUTS page
  3. ↑ 3.0 3.1 3.2 3.3 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
  4. ↑ 4.0 4.1 Lee, HH et al. (2012) Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J. Biol. Chem. 287 5882-90 PubMed GONUTS page
  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
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