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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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