MUTED

MUTED
Muted homolog (mouse)
Identifiers
Symbols MUTED; DKFZp686E2287; FLJ18427; MU
External IDs OMIM607289 MGI2178598 HomoloGene16374 GeneCards: MUTED Gene
Orthologs
Species Human Mouse
Entrez 63915 17828
Ensembl ENSG00000188428 ENSMUSG00000038982
UniProt Q8TDH9 Q8R015
RefSeq (mRNA) NM_001199322.1 NM_139063.1
RefSeq (protein) NP_001186251.1 NP_620702.1
Location (UCSC) Chr 6:
7.88 – 8.06 Mb
Chr 13:
38.68 – 38.73 Mb
PubMed search [1] [2]

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

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]

References

  1. ^ 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2847475. 
  2. ^ a b "Entrez Gene: MUTED muted homolog (mouse)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=63915. 
  3. ^ a b c 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. 
  4. ^ 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. 

Further reading