MUTED

Protein Muted homolog is a protein that in humans is encoded by the MUTED gene.^[5][6]

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)[1] Band 6p24.3 Start 8,013,567 bp[1] End 8,064,396 bp[1]
Gene location (Mouse) Chr. Chromosome 13 (mouse)[2] Band 13 A3.3|13 18.35 cM Start 38,776,818 bp[2] End 38,819,085 bp[2]
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 [3] [4]
Wikidata
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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]