BLOC1S1

Biogenesis of lysosomal organelles complex-1, subunit 1
Identifiers
Symbols	BLOC1S1 ; BLOS1; GCN5L1; MICoA; RT14
External IDs	OMIM: 601444 MGI: 1195276 HomoloGene: 1140 GeneCards: BLOC1S1 Gene
Gene ontology Molecular function • protein binding Cellular component • extracellular space • mitochondrial intermembrane space • mitochondrial matrix • lysosomal membrane • cytosol • BLOC-1 complex • extracellular exosome Biological process • post-Golgi vesicle-mediated transport • anterograde axon cargo transport • aerobic respiration • peptidyl-lysine acetylation • neuron projection development • melanosome organization • anterograde synaptic vesicle transport • platelet dense granule organization • membrane organization • activation of mitophagy in response to mitochondrial depolarization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2647	14533
Ensembl	ENSG00000135441	ENSMUSG00000090247
UniProt	P78537	O55102
RefSeq (mRNA)	NM_001487	NM_015740
RefSeq (protein)	NP_001478	NP_056555
Location (UCSC)	Chr 12: 55.72 – 55.72 Mb	Chr 10: 128.92 – 128.92 Mb
PubMed search

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.^[1][2][3]

BLOC1S1 is a component of the ubiquitously expressed BLOC1 multisubunit protein complex. BLOC1 is required for normal biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules (Starcevic and Dell'Angelica, 2004).[supplied by OMIM]^[3]

Interactions

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

References

1. Inoue M, Isomura M, Ikegawa S, Fujiwara T, Shin S, Moriya H, Nakamura Y (Jul 1996). "Isolation and characterization of a human cDNA clone (GCN5L1) homologous to GCN5, a yeast transcription activator". Cytogenet Cell Genet 73 (1-2): 134–6. doi:10.1159/000134324. PMID 8646881.
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: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".

Further reading

• Watanabe TK, Fujiwara T, Shinomiya H; et al. (1997). "Molecular cloning of a novel human cDNA, RT14, containing a putative ORF highly conserved between human, fruit fly, and nematode.". DNA Res. 2 (5): 235–7. doi:10.1093/dnares/2.5.235. PMID 8770567.
• Ogryzko VV, Kotani T, Zhang X; et al. (1998). "Histone-like TAFs within the PCAF histone acetylase complex.". Cell 94 (1): 35–44. doi:10.1016/S0092-8674(00)81219-2. PMID 9674425.
• McMahon SB, Wood MA, Cole MD (2000). "The essential cofactor TRRAP recruits the histone acetyltransferase hGCN5 to c-Myc.". Mol. Cell. Biol. 20 (2): 556–62. doi:10.1128/MCB.20.2.556-562.2000. PMC 85131. PMID 10611234.
• Kurooka H, Honjo T (2000). "Functional interaction between the mouse notch1 intracellular region and histone acetyltransferases PCAF and GCN5.". J. Biol. Chem. 275 (22): 17211–20. doi:10.1074/jbc.M000909200. PMID 10747963.
• 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.
• Mishra SK, Mazumdar A, Vadlamudi RK; et al. (2003). "MICoA, a novel metastasis-associated protein 1 (MTA1) interacting protein coactivator, regulates estrogen receptor-alpha transactivation functions.". J. Biol. Chem. 278 (21): 19209–19. doi:10.1074/jbc.M301968200. PMID 12639951.
• Lehner B, Semple JI, Brown SE; et al. (2004). "Analysis of a high-throughput yeast two-hybrid system and its use to predict the function of intracellular proteins encoded within the human MHC class III region.". Genomics 83 (1): 153–67. doi:10.1016/S0888-7543(03)00235-0. PMID 14667819.