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MT000243

UniProt Annotations

Entry Information

Gene Name	biogenesis of lysosomal organelles complex-1, subunit 1
Protein Entry	BL1S1_HUMAN
UniProt ID	P78537
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative initiation; Named isoforms=2; Name=1; IsoId=P78537-1; Sequence=Displayed; Name=2; IsoId=P78537-2; Sequence=VSP_040954; Note=May be produced by alternative initiation at Met-27 of isoform 1. A polymorphism at position 9 leads to the creation of a stop codon. Isoform 2 is the the only form that exists in orthologs (except primates).;
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:0000269\|PubMed:17182842, ECO:0000269\|PubMed:22309213}.
Interaction	P25705:ATP5A1; NbExp=2; IntAct=EBI-348630, EBI-351437; Q6QNY1:BLOC1S2; NbExp=3; IntAct=EBI-348630, EBI-465872; Q9UL45:BLOC1S6; NbExp=10; IntAct=EBI-348630, EBI-465781; Q96EV8:DTNBP1; NbExp=3; IntAct=EBI-348630, EBI-465804; Q16795:NDUFA9; NbExp=3; IntAct=EBI-348630, EBI-1045087;
Sequence Caution	Sequence=AAB37682.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Similarity	Belongs to the BLOC1S1 family. {ECO:0000305}.
Subcellular Location	Mitochondrion intermembrane space {ECO:0000269\|PubMed:22309213}. Mitochondrion matrix {ECO:0000269\|PubMed:22309213}. Cytoplasm, cytosol {ECO:0000269\|PubMed:22309213}.
Subunit	Interacts with KXD1 (By similarity). Component of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with ATP5A1 and NDUFA9; involved in their acetylation on lysine residues. {ECO:0000250, ECO:0000269\|PubMed:15102850, ECO:0000269\|PubMed:22203680, ECO:0000269\|PubMed:22309213}.