BLOC1S2

Biogenesis of lysosomal organelles complex-1, subunit 2
Identifiers
Symbols	BLOC1S2 ; BLOS2; CEAP; CEAP11
External IDs	OMIM: 609768 MGI: 1920939 HomoloGene: 45479 GeneCards: BLOC1S2 Gene
Gene ontology Molecular function • protein binding • protein C-terminus binding • oxidoreductase activity • gamma-tubulin binding Cellular component • gamma-tubulin complex • nucleus • mitochondrion • endosome • centrosome • BLOC-1 complex Biological process • microtubule nucleation • anterograde axon cargo transport • positive regulation of cell proliferation • extrinsic apoptotic signaling pathway via death domain receptors • neuron projection development • melanosome organization • positive regulation of transcription, DNA-templated • anterograde synaptic vesicle transport • platelet dense granule organization • mitochondrial outer membrane permeabilization Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	282991	73689
Ensembl	ENSG00000196072	ENSMUSG00000057506
UniProt	Q6QNY1	Q9CWG9
RefSeq (mRNA)	NM_001001342	NM_028607
RefSeq (protein)	NP_001001342	NP_082883
Location (UCSC)	Chr 10: 100.27 – 100.29 Mb	Chr 19: 44.14 – 44.15 Mb
PubMed search

Biogenesis of lysosome-related organelles complex 1 subunit 2 is a protein that in humans is encoded by the BLOC1S2 gene.^[1][2][3]

Interactions

BLOC1S2 has been shown to interact with BLOC1S1,^[2] SNAPAP,^[2] MUTED,^[2] CNO^[2] and PLDN.^[2]

References

1. Yu Y, Zhang C, Zhou G, Wu S, Qu X, Wei H, Xing G, Dong C, Zhai Y, Wan J, Ouyang S, Li L, Zhang S, Zhou K, Zhang Y, Wu C, He F (Aug 2001). "Gene expression profiling in human fetal liver and identification of tissue- and developmental-stage-specific genes through compiled expression profiles and efficient cloning of full-length cDNAs". Genome Res 11 (8): 1392–403. doi:10.1101/gr.175501. PMC 311073. PMID 11483580.
2. Starcevic M, Dell'Angelica EC (Jun 2004). "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 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
3. "Entrez Gene: BLOC1S2 biogenesis of lysosome-related organelles complex-1, subunit 2".

Further reading

• Moriyama K, Bonifacino JS (2003). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.". Traffic 3 (9): 666–77. doi:10.1034/j.1600-0854.2002.30908.x. PMID 12191018.
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Ciciotte SL, Gwynn B, Moriyama K; et al. (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).". Blood 101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID 12576321.
• Li W, Zhang Q, Oiso N; et al. (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).". Nat. Genet. 35 (1): 84–9. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Deloukas P, Earthrowl ME, Grafham DV; et al. (2004). "The DNA sequence and comparative analysis of human chromosome 10.". Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054.
• Wang Z, Wei H, Yu Y; et al. (2004). "Characterization of Ceap-11 and Ceap-16, two novel splicing-variant-proteins, associated with centrosome, microtubule aggregation and cell proliferation.". J. Mol. Biol. 343 (1): 71–82. doi:10.1016/j.jmb.2004.08.034. PMID 15381421.
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.