BLOC1S1

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Biogenesis of lysosome-related organelles complex-1, subunit 1
Identifiers
Symbol(s) BLOC1S1; BLOS1; GCN5L1; MGC87455
External IDs OMIM: 601444 MGI1195276 HomoloGene1140
RNA expression pattern

More reference expression data

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)
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: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. 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. 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:10.1074/jbc.M402513200. PMID 15102850.