MUTED explained

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.^{[1] [2]}

Function

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.^[2]

Interactions

MUTED has been shown to interact with BLOC1S2,^[3] Dysbindin^[3] and PLDN.^{[3] [4]}

Further reading

• Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC . BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules . The Journal of Biological Chemistry . 277 . 31 . 28191–9 . August 2002 . 12019270 . 10.1074/jbc.M204011200 . free .
• Moriyama K, Bonifacino JS . Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles . Traffic . 3 . 9 . 666–77 . September 2002 . 12191018 . 10.1034/j.1600-0854.2002.30908.x . 29888859 . free .
• Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL . 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 . June 2003 . 12576321 . 10.1182/blood-2003-01-0020 . free .
• Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT . Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1) . Nature Genetics . 35 . 1 . 84–9 . September 2003 . 12923531 . 2860733 . 10.1038/ng1229 .
• Starcevic M, Dell'Angelica EC . 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) . The Journal of Biological Chemistry . 279 . 27 . 28393–401 . July 2004 . 15102850 . 10.1074/jbc.M402513200 . free .

Notes and References

1. Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT . The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking . Human Molecular Genetics . 11 . 6 . 697–706 . March 2002 . 11912185 . 2847475 . 10.1093/hmg/11.6.697 .
2. Web site: Entrez Gene: MUTED muted homolog (mouse).
3. Starcevic M, Dell'Angelica EC . 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) . The Journal of Biological Chemistry . 279 . 27 . 28393–401 . July 2004 . 15102850 . 10.1074/jbc.M402513200 . free .
4. Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC . BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules . The Journal of Biological Chemistry . 277 . 31 . 28191–9 . August 2002 . 12019270 . 10.1074/jbc.M204011200 . free .