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    Bloc1s5 biogenesis of lysosomal organelles complex 1 subunit 5 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 306868, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bloc1s5provided by RGD
    Official Full Name
    biogenesis of lysosomal organelles complex 1 subunit 5provided by RGD
    Primary source
    RGD:1306846
    See related
    EnsemblRapid:ENSRNOG00000016497 AllianceGenome:RGD:1306846
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Muted
    Summary
    Predicted to be involved in several processes, including anterograde synaptic vesicle transport; endosome to melanosome transport; and melanosome transport. Predicted to act upstream of or within developmental pigmentation; otolith morphogenesis; and vesicle-mediated transport. Predicted to be located in transport vesicle. Predicted to be part of BLOC-1 complex. Predicted to be active in microvesicle. 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
    Biased expression in Adrenal (RPKM 124.6), Heart (RPKM 110.3) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Bloc1s5 in Genome Data Viewer
    Location:
    17p12
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 17 NC_086035.1 (26377549..26402869)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 17 NC_051352.1 (26171965..26197276)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 17 NC_005116.4 (26808193..26833257)

    Chromosome 17 - NC_086035.1Genomic Context describing neighboring genes Neighboring gene DNA polymerase epsilon 3, accessory subunit, pseudogene 2 Neighboring gene eukaryotic translation elongation factor 1 epsilon 1 Neighboring gene uncharacterized LOC134482843 Neighboring gene putative protein CRIPAK Neighboring gene uncharacterized LOC120097825 Neighboring gene uncharacterized LOC134482844

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. 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
    2. Muted, a new mutant affecting coat colour and otoliths of the mouse, and its position in linkage group XIV. Lyon MF, et al. Genet Res, 1969 Oct. PMID 5367369
    3. Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1). Ciciotte SL, et al. Blood, 2003 Jun 1. PMID 12576321
    4. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Setty SR, et al. Mol Biol Cell, 2007 Mar. PMID 17182842, Free PMC Article
    5. Assembly and architecture of biogenesis of lysosome-related organelles complex-1 (BLOC-1). Lee HH, et al. J Biol Chem, 2012 Feb 17. PMID 22203680, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in anterograde axonal transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in anterograde synaptic vesicle transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within developmental pigmentation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosome to melanosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in melanosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within otolith morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of pigment cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within vesicle-mediated transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in transport vesicle ISO
    Inferred from Sequence Orthology
    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 lysosomal 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_001107347.1 → NP_001100817.1  biogenesis of lysosome-related organelles complex 1 subunit 5

      See identical proteins and their annotated locations for NP_001100817.1

      Status: PROVISIONAL

      Source sequence(s)
      CH473977
      UniProtKB/Swiss-Prot
      B2GV52
      Related
      ENSRNOP00000022108.4, ENSRNOT00000022108.7
      Conserved Domains (1) summary
      pfam14942
      Location:36 → 175
      Muted; Organelle biogenesis, Muted-like protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086035.1 Reference GRCr8

      Range
      26377549..26402869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006253807.5 → XP_006253869.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform X1

      Related
      ENSRNOP00000105165.1, ENSRNOT00000122770.1
      Conserved Domains (1) summary
      pfam14942
      Location:36 → 220
      Muted; Organelle biogenesis, Muted-like protein

    2. XM_063276390.1 → XP_063132460.1  biogenesis of lysosome-related organelles complex 1 subunit 5 isoform X2

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2GV52.1 GenPept UniProtKB/Swiss-Prot:B2GV52

    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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