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MT001616

UniProt Annotations

Entry Information

Gene Name	biogenesis of lysosomal organelles complex-1, subunit 2
Protein Entry
UniProt ID
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; Synonyms=Ceap-16; IsoId=Q6QNY1-1; Sequence=Displayed; Name=2; Synonyms=Ceap-11; IsoId=Q6QNY1-2; Sequence=VSP_018350;
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. Plays a role in intracellular vesicle trafficking. May play a role in cell proliferation. {ECO:0000269\|PubMed:15102850, ECO:0000269\|PubMed:15381421, ECO:0000269\|PubMed:17182842}.
Interaction	P78537:BLOC1S1; NbExp=3; IntAct=EBI-465872, EBI-348630; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465872, EBI-465930; Q8TDH9:BLOC1S5; NbExp=2; IntAct=EBI-465872, EBI-465861; Q9UL45:BLOC1S6; NbExp=3; IntAct=EBI-465872, EBI-465781; Q96EV8:DTNBP1; NbExp=6; IntAct=EBI-465872, EBI-465804; Q9NWB7:IFT57; NbExp=3; IntAct=EBI-465872, EBI-725672; O95295:SNAPIN; NbExp=7; IntAct=EBI-465872, EBI-296723;
Sequence Caution	Sequence=AAH20494.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH72396.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAH72821.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Similarity	Belongs to the BLOC1S2 family. {ECO:0000305}.
Subcellular Location	Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269\|PubMed:15381421}. Note=Localizes to the centrosomes in a microtubule-dependent manner.
Subunit	Interacts with IFT57 (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 directly with BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. Interacts with gamma-tubulin. {ECO:0000250, ECO:0000269\|PubMed:15102850, ECO:0000269\|PubMed:15381421, ECO:0000269\|PubMed:22203680}.
Tissue Specificity	Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). {ECO:0000269\|PubMed:15381421}.