BLOC1S1
From Wikipedia, the free encyclopedia
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Biogenesis of lysosome-related organelles complex-1, subunit 1
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| Identifiers | ||||||||||||||
| Symbol(s) | BLOC1S1; BLOS1; GCN5L1; MGC87455 | |||||||||||||
| External IDs | OMIM: 601444 MGI: 1195276 HomoloGene: 1140 | |||||||||||||
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| RNA expression pattern | ||||||||||||||
| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 2647 | 14533 | ||||||||||||
| Ensembl | ENSG00000135441 | ENSMUSG00000025349 | ||||||||||||
| Uniprot | P78537 | O55102 | ||||||||||||
| Refseq | NM_001487 (mRNA) NP_001478 (protein) |
NM_015740 (mRNA) NP_056555 (protein) |
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| Location | Chr 12: 54.4 - 54.4 Mb | Chr 10: 128.32 - 128.33 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
Biogenesis of lysosome-related organelles complex-1, subunit 1, also known as BLOC1S1, is a human gene.[1]
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][1]
[edit] References
[edit] Further reading
- Inoue M, Isomura M, Ikegawa S, et al. (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. PMID 8646881.
- 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. 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. 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. 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:. 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:. 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:. 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. PMID 14667819.
- Starcevic M, Dell'Angelica EC (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:. PMID 15102850.

