Homo sapiens Protein: BLOC1S1
Summary
InnateDB Protein IDBP-38914.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol BLOC1S1
Protein Name biogenesis of lysosomal organelles complex-1, subunit 1
Synonyms BLOS1; GCN5L1; MICoA; RT14;
Species Homo sapiens
Ensembl Protein ENSP00000257899
InnateDB Gene IDBG-38912 (BLOC1S1)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Mitochondrion intermembrane space {ECO:0000269PubMed:22309213}. Mitochondrion matrix {ECO:0000269PubMed:22309213}. Cytoplasm, cytosol {ECO:0000269PubMed:22309213}.
Disease Associations
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 21 experimentally validated interaction(s) in this database.
Experimentally validated
Total 21 [view]
Protein-Protein 20 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006892 post-Golgi vesicle-mediated transport
GO:0008089 anterograde axon cargo transport
GO:0009060 aerobic respiration
GO:0018394 peptidyl-lysine acetylation
GO:0031175 neuron projection development
GO:0032438 melanosome organization
GO:0048490 anterograde synaptic vesicle transport
GO:0060155 platelet dense granule organization
GO:0061024 membrane organization
Cellular Component
GO:0005615 extracellular space
GO:0005758 mitochondrial intermembrane space
GO:0005759 mitochondrial matrix
GO:0005765 lysosomal membrane
GO:0005829 cytosol
GO:0031083 BLOC-1 complex
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR009395 GCN5-like 1
PFAM PF06320
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P78537
PhosphoSite PhosphoSite-P78537
TrEMBL F8W099
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq
HUGO
OMIM 601444
CCDS
HPRD 03263
IMGT
EMBL AC009779 BC130640 BC132795 D64007 S82447
GenPept AAB37682 AAI30641 AAI32796 BAA10887