MUTED

BLOC1S5
Identifiers
Aliases	BLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5
External IDs	MGI: 2178598 HomoloGene: 16374 GeneCards: BLOC1S5
Gene ontology Molecular function • protein binding Cellular component • BLOC-1 complex • transport vesicle • axon cytoplasm Biological process • melanosome transport • neuron projection development • anterograde synaptic vesicle transport • endosome to melanosome transport • anterograde axonal transport • melanosome organization • positive regulation of pigment cell differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	63915	17828
Ensembl	n/a	ENSMUSG00000038982
UniProt	Q8TDH9	Q8R015
RefSeq (mRNA)	NM_201280 NM_001199322 NM_001199323	NM_139063
RefSeq (protein)	NP_001186251.1 NP_958437.1	NP_620702.1
Location (UCSC)	Chr 6: 8.01 – 8.06 Mb	Chr 13: 38.6 – 38.64 Mb
PubMed search	[1]	[2]
Wikidata

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Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.^[3][4]

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.^[4]

Interactions

MUTED has been shown to interact with BLOC1S2,^[5] Dysbindin^[5] and PLDN.^[5][6]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Zhang Q, Li W, Novak EK, Karim A, Mishra VS, Kingsmore SF, Roe BA, Suzuki T, Swank RT (Mar 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. doi:10.1093/hmg/11.6.697. PMC 2847475. PMID 11912185.
4. "Entrez Gene: MUTED muted homolog (mouse)".
5. Starcevic, Marta; Dell'Angelica Esteban C (Jul 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. United States. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. ISSN 0021-9258. PMID 15102850.
6. Falcón-Pérez, Juan M; Starcevic Marta, Gautam Rashi, Dell'Angelica Esteban C (Aug 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. United States. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. ISSN 0021-9258. PMID 12019270. Cite uses deprecated parameter |coauthors= (help)

Further reading

• 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. doi:10.1034/j.1600-0854.2002.30908.x. 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. PMC 139241. 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. PMC 2860733. 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. PMC 528928. PMID 15489334.