BLOC1S1

Biogenesis of lysosome-related organelles complex 1 subunit 1 is a protein that in humans is encoded by the BLOC1S1 gene.[5][6][7]

BLOC1S1
Identifiers
Aliases	BLOC1S1, BLOS1, GCN5L1, MICoA, RT14, BORCS1, biogenesis of lysosomal organelles complex 1 subunit 1
External IDs	OMIM: 601444 MGI: 1195276 HomoloGene: 1140 GeneCards: BLOC1S1
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q13.2 Start 55,716,037 bp[1] End 55,720,087 bp[1]
Gene location (Mouse) Chr. Chromosome 10 (mouse)[2] Band 10 D3|10 77.19 cM Start 128,917,882 bp[2] End 128,924,035 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • cytosol • BLOC-1 complex • mitochondrial intermembrane space • mitochondrial matrix • mitochondrion • extracellular exosome • axon cytoplasm • extracellular • lysosome • lysosomal membrane • membrane • BORC complex Biological process • platelet dense granule organization • anterograde axonal transport • endosomal transport • melanosome organization • aerobic respiration • anterograde synaptic vesicle transport • neuron projection development • peptidyl-lysine acetylation • lysosome localization Sources:Amigo / QuickGO
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	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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][7]

Interactions

BLOC1S1 has been shown to interact with BLOC1S2,[6] SNAPAP[6] and PLDN.[6]

References

1. GRCh38: Ensembl release 89: ENSG00000135441 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000090247 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. 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.
7. "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".

External links

• Human BLOC1S1 genome location and BLOC1S1 gene details page in the UCSC Genome Browser.

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. S2CID 18942972.
• 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.