MUTED

BLOC1S5
Identifiers
AliasesBLOC1S5, BLOS5, MU, MUTED, biogenesis of lysosomal organelles complex 1 subunit 5, HPS11
External IDsOMIM: 607289; MGI: 2178598; GeneCards: BLOC1S5
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
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 MbChr 13: 38.78 – 38.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein Muted homolog is a protein that in humans is encoded by the BLOC1S5 gene (previously MUTED).[5][6]

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]

Interactions

MUTED has been shown to interact with BLOC1S2,[7] Dysbindin[7] and PLDN.[7][8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188428 – Ensembl, May 2017
  2. ^ a b c 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. ^ a b "Entrez Gene: MUTED muted homolog (mouse)".
  7. ^ 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.
  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


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