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    Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted [ Mus musculus (house mouse) ]

    Gene ID: 17828, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bloc1s5provided by MGI
    Official Full Name
    biogenesis of lysosomal organelles complex-1, subunit 5, mutedprovided by MGI
    Primary source
    MGI:MGI:2178598
    See related
    Ensembl:ENSMUSG00000038982 AllianceGenome:MGI:2178598
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mu; Muted; 1810074A19Rik
    Summary
    Involved in anterograde synaptic vesicle transport. Acts upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Part of BLOC-1 complex. Is active in microvesicle. Used to study Hermansky-Pudlak syndrome; Hermansky-Pudlak syndrome 1; and platelet storage pool deficiency. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome. Orthologous to human BLOC1S5 (biogenesis of lysosomal organelles complex 1 subunit 5). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in subcutaneous fat pad adult (RPKM 6.9), liver adult (RPKM 6.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bloc1s5 in Genome Data Viewer
    Location:
    13 A3.3; 13 18.35 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (38786674..38821093, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (38602698..38637117, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene thioredoxin domain containing 5 Neighboring gene predicted gene, 31834 Neighboring gene predicted gene, 40922 Neighboring gene STARR-seq mESC enhancer starr_34249 Neighboring gene STARR-positive B cell enhancer ABC_E7228 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 Neighboring gene STARR-seq mESC enhancer starr_34251 Neighboring gene DNA polymerase epsilon subunit 3 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Impaired autophagy in hilar mossy cells of the dentate gyrus and its implication in schizophrenia. Yuan Y, et al. J Genet Genomics, 2015 Jan 20. PMID 25619597
    2. Dysbindin-1C is required for the survival of hilar mossy cells and the maturation of adult newborn neurons in dentate gyrus. Wang H, et al. J Biol Chem, 2014 Oct 17. PMID 25157109, Free PMC Article
    3. The gene for the muted (mu) mouse, a model for Hermansky-Pudlak syndrome, defines a novel protein which regulates vesicle trafficking. Zhang Q, et al. Hum Mol Genet, 2002 Mar 15. PMID 11912185, Free PMC Article
    4. Mutations in the BLOC-1 subunits dysbindin and muted generate divergent and dosage-dependent phenotypes. Larimore J, et al. J Biol Chem, 2014 May 16. PMID 24713699, Free PMC Article
    5. Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells. Hao Z, et al. J Cell Sci, 2015 Apr 1. PMID 25673877

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The muted protein is involved in the selective export of CgA during the biogenesis of large dense-core vesicle.
      Title: Impaired maturation of large dense-core vesicles in muted-deficient adrenal chromaffin cells.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 
    • Spontaneous (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in anterograde synaptic vesicle transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within developmental pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endosome to melanosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosome to melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in melanosome organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in melanosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in melanosome transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in neuron projection development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within otolith morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of pigment cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of pigment cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within vesicle-mediated transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BLOC-1 complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of BLOC-1 complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in microvesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in transport vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in transport vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    biogenesis of lysosome-related organelles complex 1 subunit 5
    Names
    BLOC-1 subunit 5
    biogenesis of organelles complex-1, subunit 5, muted
    protein Muted homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_139063.3 → NP_620702.1  biogenesis of lysosome-related organelles complex 1 subunit 5

      See identical proteins and their annotated locations for NP_620702.1

      Status: VALIDATED

      Source sequence(s)
      AF426433, BC024720
      Consensus CDS
      CCDS26464.1
      UniProtKB/Swiss-Prot
      Q3TCP2, Q8CAC9, Q8R015
      Related
      ENSMUSP00000036614.7, ENSMUST00000035899.8
      Conserved Domains (1) summary
      pfam14942
      Location:34 → 173
      Muted; Organelle biogenesis, Muted-like protein

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      38786674..38821093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516573.4 → XP_006516636.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform X1

      Conserved Domains (1) summary
      pfam14942
      Location:34 → 108
      Muted; Organelle biogenesis, Muted-like protein

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178054.2: Suppressed sequence

      Description
      NM_178054.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R015.1 GenPept UniProtKB/Swiss-Prot:Q8R015

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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