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BLOC1S5
Identifiers
Aliases	BLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5, HPS11
External IDs	OMIM: 607289; MGI: 2178598; HomoloGene: 16374; GeneCards: BLOC1S5; OMA:BLOC1S5 - orthologs
Gene location (Human) Chr. Chromosome 6 (human) Band 6p24.3 Start 8,013,567 bp End 8,064,396 bp
Gene location (Mouse) Chr. Chromosome 13 (mouse) Band 13 A3.3|13 18.35 cM Start 38,776,818 bp End 38,819,085 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic ductal cell visceral pleura parietal pleura tibia tendon of biceps brachii endothelial cell germinal epithelium sperm superficial temporal artery trabecular bone Top expressed in epithelium of lens motor neuron endocardial cushion left lobe of liver facial motor nucleus substantia nigra atrioventricular junction renal corpuscle medial vestibular nucleus atrioventricular valve More reference expression data BioGPS n/a
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 ENSG00000188428 ENSMUSG00000038982 UniProt Q8TDH9 Q8R015 RefSeq (mRNA) NM_201280 NM_001199322 NM_001199323 NM_139063 NM_178054 RefSeq (protein) NP_001186251 NP_001186252 NP_958437 NP_620702 Location (UCSC) Chr 6: 8.01 – 8.06 Mb Chr 13: 38.78 – 38.82 Mb PubMed search
Wikidata
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Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.

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.

Interactions

MUTED has been shown to interact with BLOC1S2, Dysbindin and PLDN.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000188428 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000038982 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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.
6. ^ "Entrez Gene: MUTED muted homolog (mouse)".
7. ^ 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.
8. 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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