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    Borcs5 BLOC-1 related complex subunit 5 [ Mus musculus (house mouse) ]

    Gene ID: 67774, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Borcs5provided by MGI
    Official Full Name
    BLOC-1 related complex subunit 5provided by MGI
    Primary source
    MGI:MGI:1915024
    See related
    Ensembl:ENSMUSG00000042992 AllianceGenome:MGI:1915024
    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
    Loh12cr1; 5830457J20Rik
    Summary
    Acts upstream of or within nervous system development and organelle transport along microtubule. Is active in axon and lysosome. Is expressed in brain; heart; lung; and metanephros. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma. Orthologous to human BORCS5 (BLOC-1 related complex subunit 5). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 13.0), cortex adult (RPKM 9.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Borcs5 in Genome Data Viewer
    Location:
    6 G1; 6 65.77 cM
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (134616475..134688147)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (134639512..134711184)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene low density lipoprotein receptor-related protein 6 Neighboring gene STARR-seq mESC enhancer starr_17546 Neighboring gene STARR-positive B cell enhancer mm9_chr6:134565289-134565590 Neighboring gene MANSC domain containing 1 Neighboring gene STARR-positive B cell enhancer ABC_E9105 Neighboring gene predicted gene, 57779 Neighboring gene dual specificity phosphatase 16 Neighboring gene STARR-seq mESC enhancer starr_17547 Neighboring gene predicted gene, 36328 Neighboring gene RIKEN cDNA 1700055D16 gene Neighboring gene STARR-positive B cell enhancer mm9_chr6:134742531-134742832 Neighboring gene STARR-positive B cell enhancer ABC_E3688 Neighboring gene predicted gene, 53343

    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 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. Synaptic Vesicle Precursors and Lysosomes Are Transported by Different Mechanisms in the Axon of Mammalian Neurons. De Pace R, et al. Cell Rep, 2020 Jun 16. PMID 32553155, Free PMC Article
    2. Biogenesis of lysosome-related organelles complex-1 (BORC) regulates late endosomal/lysosomal size through PIKfyve-dependent phosphatidylinositol-3,5-bisphosphate. Yordanov TE, et al. Traffic, 2019 Sep. PMID 31314175, Free PMC Article
    3. BORC, a multisubunit complex that regulates lysosome positioning. Pu J, et al. Dev Cell, 2015 Apr 20. PMID 25898167, Free PMC Article
    4. ACAA2 is a ligand-dependent coactivator for thyroid hormone receptor β1. Wang W, et al. Biochem Biophys Res Commun, 2021 Oct 22. PMID 34474245, Free PMC Article
    5. Identification of 14-3-3epsilon substrates from embryonic murine brain. Ballif BA, et al. J Proteome Res, 2006 Sep. PMID 16944949

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in lysosome localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in lysosome localization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in lysosome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lysosome localization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    acts_upstream_of_or_within nervous system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in organelle transport along microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within organelle transport along microtubule IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in organelle transport along microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in organelle transport along microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of anterograde synaptic vesicle transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of endosome size NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of lysosome size NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BORC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BORC complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of BORC complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axon IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in cytoplasmic side of lysosomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic side of lysosomal membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic side of lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in lysosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of plus-end kinesin complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of plus-end kinesin complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    BLOC-1-related complex subunit 5
    Names
    loss of heterozygosity 12 chromosomal region 1 protein homolog
    loss of heterozygosity, 12, chromosomal region 1 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_001170479.1 → NP_001163950.1  BLOC-1-related complex subunit 5 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AI842379, AK151342, DV652098, DV658678
      Consensus CDS
      CCDS51936.1
      UniProtKB/TrEMBL
      E9Q2W8
      Related
      ENSMUSP00000127413.2, ENSMUST00000166591.8
      Conserved Domains (1) summary
      pfam10158
      Location:62 → 192
      LOH1CR12; Tumour suppressor protein

    2. NM_026371.3 → NP_080647.2  BLOC-1-related complex subunit 5 isoform 2

      See identical proteins and their annotated locations for NP_080647.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI842379, AK151342, BY077254
      Consensus CDS
      CCDS20638.1
      UniProtKB/Swiss-Prot
      Q8BJB0, Q9D920
      Related
      ENSMUSP00000054913.9, ENSMUST00000062755.10
      Conserved Domains (1) summary
      pfam10158
      Location:61 → 191
      LOH1CR12; Tumour suppressor 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_000072.7 Reference GRCm39 C57BL/6J

      Range
      134616475..134688147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D920.1 GenPept UniProtKB/Swiss-Prot:Q9D920

    Gene LinkOut

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

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