MUTED

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Muted homolog (mouse)
Identifiers
Symbol(s) MUTED; MU; DKFZp686E2287
External IDs OMIM: 607289 MGI: 2178598 HomoloGene: 16374
Orthologs
Human Mouse
Entrez 63915 17828
Ensembl n/a ENSMUSG00000038982
Uniprot n/a Q8R015
Refseq NM_201280 (mRNA)
NP_958437 (protein)		 NM_139063 (mRNA)
NP_620702 (protein)
Location n/a Chr 13: 38.6 - 38.64 Mb
Pubmed search [1] [2]

Muted homolog (mouse), also known as MUTED, is a human gene.[1]

This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak syndrome is mutated in the murine version of this gene. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene.[1]

[edit] References

  1. ^ a b Entrez Gene: MUTED muted homolog (mouse).

[edit] Further reading

  • Zhang Q, Li W, Novak EK, et al. (2002). "The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking.". Hum. Mol. Genet. 11 (6): 697–706. PMID 11912185. 
  • Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules.". J. Biol. Chem. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID 12019270. 
  • Moriyama K, Bonifacino JS (2003). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles.". Traffic 3 (9): 666–77. PMID 12191018. 
  • 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. 
  • Ciciotte SL, Gwynn B, Moriyama K, et al. (2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).". Blood 101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID 12576321. 
  • Li W, Zhang Q, Oiso N, et al. (2003). "Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).". Nat. Genet. 35 (1): 84–9. doi:10.1038/ng1229. PMID 12923531. 
  • Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6.". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404. 
  • 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. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
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