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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

    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
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    Genomic context

    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

    Expression

    • 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

    Variation

    Alleles

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

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    part_of BLOC-1 complex  
    part_of BLOC-1 complex PubMed 
    part_of BLOC-1 complex  
    part_of BLOC-1 complex  
    located_in axon cytoplasm  
    is_active_in microvesicle PubMed 
    located_in transport vesicle  
    located_in transport vesicle  

    General protein information

    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_139063.3NP_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:34173
      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_006516573.4XP_006516636.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform X1

      Conserved Domains (1) summary
      pfam14942
      Location:34108
      Muted; Organelle biogenesis, Muted-like protein

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