BLOC1S1

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)
End	55,720,087 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	128,759,904 bp
RNA expression pattern
	Top expressed in
	amygdala; ; body of stomach; ; substantia nigra; ; putamen; ; renal cortex; ; nucleus accumbens; ; hippocampus proper;
	More reference expression data
	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 space; 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
	2647
	14533
	ENSG00000135441
	ENSMUSG00000090247
	P78537
	O55102
	NM_001487
	NM_015740
	NP_001478
	NP_056555
	Wikidata
View/Edit Human	View/Edit Mouse

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 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[]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000135441 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000090247 - Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b ^c ^d 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.
^ ^a ^b "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.

This article on a gene on human chromosome 12 is a stub. You can help Wikipedia by .

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000135441 - Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid8646881-5] 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.

[pmid15102850-6] 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.

[entrez-7] "Entrez Gene: BLOC1S1 biogenesis of lysosome-related organelles complex-1, subunit 1".

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