InnateDB Protein
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IDBP-592236.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BLOC1S1
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Protein Name
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biogenesis of lysosomal organelles complex-1, subunit 1
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Synonyms
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BLOS1; GCN5L1; MICoA; RT14;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000447537
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InnateDB Gene
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IDBG-38912 (BLOC1S1)
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Protein Structure
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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 membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May negatively regulate aerobic respiration through mitochondrial protein lysine-acetylation. May counteract the action of the deacetylase SIRT3 by acetylating and regulating proteins of the mitochondrial respiratory chain including ATP5A1 and NDUFA9. {ECO:0000269PubMed:17182842, ECO:0000269PubMed:22309213}.
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Subcellular Localization |
Mitochondrion intermembrane space {ECO:0000269PubMed:22309213}. Mitochondrion matrix {ECO:0000269PubMed:22309213}. Cytoplasm, cytosol {ECO:0000269PubMed:22309213}.
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Disease Associations |
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
21
[view]
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Protein-Protein |
20
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009395
GCN5-like 1
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PFAM |
PF06320
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P78537
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PhosphoSite |
PhosphoSite-P78537
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TrEMBL |
G8JLQ3
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UniProt Splice Variant |
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Entrez Gene |
2647
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UniGene |
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RefSeq |
NP_001478
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HUGO |
HGNC:4200
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OMIM |
601444
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CCDS |
CCDS8889
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HPRD |
03263
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IMGT |
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EMBL |
AC009779
BC130640
BC132795
D64007
S82447
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GenPept |
AAB37682
AAI30641
AAI32796
BAA10887
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