MUTED
Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.[5][6]
| BLOC1S5 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | BLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5, HPS11 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607289 MGI: 2178598 HomoloGene: 16374 GeneCards: BLOC1S5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[6]
References
- GRCh38: Ensembl release 89: ENSG00000188428 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000038982 - 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.
- Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT (March 2002). "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. doi:10.1093/hmg/11.6.697. PMC 2847475. PMID 11912185.
- "Entrez Gene: MUTED muted homolog (mouse)".
- Starcevic M, Dell'Angelica EC (July 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)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
- Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "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. doi:10.1074/jbc.M204011200. PMID 12019270.
Further reading
- Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "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. doi:10.1074/jbc.M204011200. PMID 12019270.
- Moriyama K, Bonifacino JS (September 2002). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles". Traffic. 3 (9): 666–77. doi:10.1034/j.1600-0854.2002.30908.x. PMID 12191018. S2CID 29888859.
- Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (June 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, 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 (September 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)". Nature Genetics. 35 (1): 84–9. doi:10.1038/ng1229. PMC 2860733. PMID 12923531.
- Starcevic M, Dell'Angelica EC (July 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)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID 15102850.
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