Gene Symbol: Bloc1s2
Description: biogenesis of lysosomal organelles complex-1, subunit 2
Alias: RSEP1, Sep1, biogenesis of lysosome-related organelles complex-1 subunit 2, BLOC-1 subunit 2, BLOC1S2 isoform, spinal cord-expressed protein 1
Starcevic M, Dell Angelica E. 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. 2004;279:28393-401 pubmed
..Mutations in the human genes encoding Snapin and the BLOS proteins could underlie novel forms of HPS. ..
Lee H, Nemecek D, Schindler C, Smith W, Ghirlando R, Steven A, et al
. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Biol Chem. 2012;287:5882-90 pubmed publisher
..The two subcomplexes appear to constitute flexible units within the larger BLOC-1 chain, an arrangement conducive to simultaneous interactions with multiple BLOC-1 partners in the course of tubular endosome biogenesis and sorting. ..
Gdynia G, Lehmann Koch J, Sieber S, Tagscherer K, Fassl A, Zentgraf H, et al
. BLOC1S2 interacts with the HIPPI protein and sensitizes NCH89 glioblastoma cells to apoptosis. Apoptosis. 2008;13:437-47 pubmed publisher
..In search for other binding partners of HIPPI, we performed a yeast two hybrid screen and identified BLOC1S2 (Biogenesis of lysosome-related organelles complex-1 subunit 2) as a novel HIPPI-interacting protein...
Sun J, Nie J, Hao B, Li L, Xing G, Wang Z, et al
. Ceap/BLOS2 interacts with BRD7 and selectively inhibits its transcription-suppressing effect on cellular proliferation-associated genes. Cell Signal. 2008;20:1151-8 pubmed publisher
..These findings suggest a novel function for Ceap-16 in the transcriptional regulation through associating with BRD7. ..
Felten A, Leister P, Burgdorf S, Uhlmann L, Scheidtmann K. Characterization of rat BLOS2/Ceap, a putative yeast She3 homolog, as interaction partner of apoptosis antagonizing transcription factor/Che-1. Biol Chem. 2007;388:569-82 pubmed
..In search of novel interaction partners of AATF, we identified BLOS2 (BLOC1S2, also termed Ceap) from a rat cDNA library...
Monfregola J, Napolitano G, D Urso M, Lappalainen P, Ursini M. Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin. J Biol Chem. 2010;285:16951-7 pubmed publisher
..Moreover, our data suggest that WASH is also a component of the BLOC-1 complex that is associated with the centrosomes. ..
Pu J, Schindler C, Jia R, Jarnik M, Backlund P, Bonifacino J. BORC, a multisubunit complex that regulates lysosome positioning. Dev Cell. 2015;33:176-88 pubmed publisher
..In turn, this causes reduced cell spreading and migration, highlighting the importance of BORC-dependent centrifugal transport for non-degradative functions of lysosomes. ..
Vitt U, Gietzen D, Stevens K, Wingrove J, Becha S, Bulloch S, et al
. Identification of candidate disease genes by EST alignments, synteny, and expression and verification of Ensembl genes on rat chromosome 1q43-54. Genome Res. 2004;14:640-50 pubmed
..The combination of the results from these different analyses represents a powerful approach for narrowing the number of genes that could play a role in the development of complex diseases. ..
Wang Z, Wei H, Yu Y, Sun J, Yang Y, Xing G, et al
. Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation. J Mol Biol. 2004;343:71-82 pubmed
..Taken together, our data provide the first evidence for the function of Ceap-11 and Ceap-16, the two novel human proteins, namely, association with centrosome, microtubule aggregation and cell proliferation. ..