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HUMAN:BL1S3
Contents |
| Species (Taxon ID) | Homo sapiens (Human). ([1]) | |
| Gene Name(s) | BLOC1S3 (synonyms: BLOS3) | |
| Protein Name(s) | Biogenesis of lysosome-related organelles complex 1 subunit 3
BLOC-1 subunit 3 | |
| External Links | ||
| EMBL | AY531266 AK296695 BC151151 BC151152 | |
| IPI | IPI00397721 | |
| RefSeq | NP_997715.1 | |
| UniGene | Hs.103902 | |
| ProteinModelPortal | Q6QNY0 | |
| IntAct | Q6QNY0 | |
| STRING | Q6QNY0 | |
| PhosphoSite | Q6QNY0 | |
| PRIDE | Q6QNY0 | |
| Ensembl | ENST00000341054 ENST00000433642 | |
| GeneID | 388552 | |
| KEGG | hsa:388552 | |
| UCSC | uc002pax.2 | |
| CTD | 388552 | |
| GeneCards | GC19P042112 | |
| H-InvDB | HIX0040070 | |
| HGNC | HGNC:20914 | |
| MIM | 609762 614077 | |
| neXtProt | NX_Q6QNY0 | |
| Orphanet | 231537 | |
| PharmGKB | PA134884924 | |
| eggNOG | prNOG20805 | |
| GeneTree | ENSGT00390000008756 | |
| InParanoid | Q6QNY0 | |
| OMA | EELYLGP | |
| OrthoDB | EOG46Q6TX | |
| PhylomeDB | Q6QNY0 | |
| Reactome | REACT_11123 | |
| NextBio | 102134 | |
| ArrayExpress | Q6QNY0 | |
| Bgee | Q6QNY0 | |
| CleanEx | HS_BLOC1S3 | |
| Genevestigator | Q6QNY0 | |
| GermOnline | ENSG00000189114 | |
| GO | GO:0031083 GO:0005515 GO:0016044 GO:0001654 GO:0032438 GO:0030168 GO:0060155 GO:0006892 | |
| InterPro | IPR017245 | |
| PIRSF | PIRSF037630 | |
Annotations
| Qualifier | GO ID | GO term name | Reference | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| GO:0001654 |
eye development |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0003674 |
molecular function |
ND: No biological Data available |
|
F |
Seeded From UniProt |
|||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005515 |
protein binding |
IPI: Inferred from Physical Interaction |
F |
Seeded From UniProt |
||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
C |
Seeded From UniProt |
||||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
C |
Seeded From UniProt |
|||
| GO:0005737 |
cytoplasm |
IEA: Inferred from Electronic Annotation |
SP_SL:SL-0086 |
C |
Seeded From UniProt |
|||
| GO:0005737 |
cytoplasm |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0005829 |
cytosol |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
C |
Seeded From UniProt |
|||
| GO:0005829 |
cytosol |
Reactome:REACT_19390 |
TAS: Traceable Author Statement |
|
C |
Seeded From UniProt |
||
| GO:0006892 |
post-Golgi vesicle-mediated transport |
Reactome:REACT_11235 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0007596 |
blood coagulation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0016044 |
cellular membrane organization |
Reactome:REACT_11123 |
TAS: Traceable Author Statement |
|
P |
Seeded From UniProt |
||
| GO:0030168 |
platelet activation |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0031083 |
BLOC-1 complex |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
C |
Seeded From UniProt |
|||
| GO:0031083 |
BLOC-1 complex |
IDA: Inferred from Direct Assay |
|
C |
Seeded From UniProt |
|||
| GO:0031083 |
BLOC-1 complex |
NAS: Non-traceable Author Statement |
|
C |
Seeded From UniProt |
|||
| GO:0032438 |
melanosome organization |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0032438 |
melanosome organization |
NAS: Non-traceable Author Statement |
|
P |
Seeded From UniProt |
|||
| GO:0032816 |
positive regulation of natural killer cell activation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0033299 |
secretion of lysosomal enzymes |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0042493 |
response to drug |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0043473 |
pigmentation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0043473 |
pigmentation |
IMP: Inferred from Mutant Phenotype |
|
P |
Seeded From UniProt |
|||
| GO:0048066 |
developmental pigmentation |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0060155 |
platelet dense granule organization |
IEA: Inferred from Electronic Annotation |
Ensembl:ENSMUSP00000076624 |
P |
Seeded From UniProt |
|||
| GO:0060155 |
platelet dense granule organization |
NAS: Non-traceable Author Statement |
|
P |
Seeded From UniProt |
| ||
| edit table |
Notes
References
See Help:References for how to manage references in GONUTS.
- ↑ 1.0 1.1 1.2 1.3 1.4 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
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 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
