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    Bloc1s3 biogenesis of lysosomal organelles complex-1, subunit 3 [ Mus musculus (house mouse) ]

    Gene ID: 232946, updated on 27-Nov-2024

    Summary

    Official Symbol
    Bloc1s3provided by MGI
    Official Full Name
    biogenesis of lysosomal organelles complex-1, subunit 3provided by MGI
    Primary source
    MGI:MGI:2678952
    See related
    Ensembl:ENSMUSG00000057667 AllianceGenome:MGI:2678952
    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
    rp; Blos3; E230011O18
    Summary
    Enables protein transmembrane transporter activity. Involved in anterograde synaptic vesicle transport. Acts upstream of or within several processes, including positive regulation of natural killer cell activation; secretion of lysosomal enzymes; and vesicle organization. Located in cytosol. Part of BLOC-1 complex. Used to study Hermansky-Pudlak syndrome 8. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 8. Orthologous to human BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 31.5), ovary adult (RPKM 19.5) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Bloc1s3 in Genome Data Viewer
    Location:
    7 A3; 7 9.92 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (19239708..19242295, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19505783..19508380, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 23099 Neighboring gene exocyst complex component 3-like 2 Neighboring gene STARR-positive B cell enhancer ABC_E6520 Neighboring gene trafficking protein particle complex 6A Neighboring gene NTPase, KAP family P-loop domain containing 1

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Spontaneous (1) 

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    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 blood coagulation 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 eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in eye development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within melanosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 pigmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in pigmentation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in platelet activation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet activation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within platelet dense granule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of natural killer cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within secretion of lysosomal enzymes 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
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol 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

    Preferred Names
    biogenesis of lysosome-related organelles complex 1 subunit 3
    Names
    Bloc-1 complex component
    Bloc1 subunit 3
    biogenesis of lysosome-related organelles complex-1, subunit 3
    reduced pigmentation protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001421737.1NP_001408666.1  biogenesis of lysosome-related organelles complex 1 subunit 3

      Status: VALIDATED

      Source sequence(s)
      AC149052
      UniProtKB/Swiss-Prot
      Q5U5M8, Q8C6R4, Q8R0Z3
    2. NM_177692.4NP_808360.2  biogenesis of lysosome-related organelles complex 1 subunit 3

      See identical proteins and their annotated locations for NP_808360.2

      Status: VALIDATED

      Source sequence(s)
      AC149052
      Consensus CDS
      CCDS20904.1
      UniProtKB/Swiss-Prot
      Q5U5M8, Q8C6R4, Q8R0Z3
      Related
      ENSMUSP00000076624.7, ENSMUST00000077408.8
      Conserved Domains (1) summary
      pfam15753
      Location:13180
      BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      19239708..19242295 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006539831.5XP_006539894.1  biogenesis of lysosome-related organelles complex 1 subunit 3 isoform X1

      See identical proteins and their annotated locations for XP_006539894.1

      UniProtKB/Swiss-Prot
      Q5U5M8, Q8C6R4, Q8R0Z3
      Conserved Domains (1) summary
      pfam15753
      Location:13180
      BLOC1S3; Biogenesis of lysosome-related organelles complex 1 subunit 3