MUTED

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BLOC1S5
Identifiers
Aliases BLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5
External IDs MGI: 2178598 HomoloGene: 16374 GeneCards: BLOC1S5
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_201280
NM_001199322
NM_001199323

NM_139063

RefSeq (protein)

NP_001186251
NP_001186252
NP_958437

NP_620702.1
NP_620702

Location (UCSC) Chr 6: 8.01 – 8.06 Mb Chr 13: 38.6 – 38.64 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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[edit]

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

References[edit]

  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 (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 2847475Freely accessible. PMID 11912185. 
  4. ^ a b "Entrez Gene: MUTED muted homolog (mouse)". 
  5. ^ a b c 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. 
  6. ^ 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[edit]