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    Borcs8 BLOC-1 related complex subunit 8 [ Mus musculus (house mouse) ]

    Gene ID: 72368, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Borcs8provided by MGI
    Official Full Name
    BLOC-1 related complex subunit 8provided by MGI
    Primary source
    MGI:MGI:1919618
    See related
    Ensembl:ENSMUSG00000002345 AllianceGenome:MGI:1919618
    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
    Mef2bnb; 2310045N01Rik
    Summary
    Predicted to be involved in heart development. Predicted to be part of BORC complex. Is expressed in several structures, including adrenal gland; aorta; brain; genitourinary system; and gut gland. Orthologous to human BORCS8 (BLOC-1 related complex subunit 8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 24.6), mammary gland adult (RPKM 19.0) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Borcs8 in Genome Data Viewer
    Location:
    8 B3.3; 8 34.15 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (70592149..70601285)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (70139499..70148635)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 25906 Neighboring gene nuclear receptor 2C2-associated protein Neighboring gene regulatory factor X-associated ankyrin-containing protein Neighboring gene STARR-positive B cell enhancer ABC_E1102 Neighboring gene myocyte enhancer factor 2B like Neighboring gene STARR-seq mESC enhancer starr_21765 Neighboring gene myocyte enhancer factor 2B Neighboring gene STARR-positive B cell enhancer ABC_E3776 Neighboring gene STARR-positive B cell enhancer ABC_E10504 Neighboring gene transmembrane protein 161A

    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
    • 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. The MEF2B homologue differentially expressed in mouse embryonal carcinoma cells. Hidaka K, et al. Biochem Biophys Res Commun, 1995 Aug 15. PMID 7646512
    2. Non-coding RNA Neat1 and Abhd11os expressions are dysregulated in medium spiny neurons of Huntington disease model mice. Park H, et al. Neurosci Res, 2019 Oct. PMID 30391555
    3. 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
    4. BORC, a multisubunit complex that regulates lysosome positioning. Pu J, et al. Dev Cell, 2015 Apr 20. PMID 25898167, Free PMC Article
    5. Overview of inactivating mutations in the protein-coding genome of the mouse reference strain C57BL/6J. Timmermans S, et al. JCI Insight, 2018 Jul 12. PMID 29997285, Free PMC Article

    See all (23) 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)
    • Targeted (2) 

    General gene information

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    Markers

    Readthrough Mef2bl

    Readthrough gene: Mef2bl, Included gene: Mef2b

    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 heart development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lysosome localization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    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
    		  
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BLOC-1-related complex subunit 8
    Names
    MEF2B neighbor gene protein homolog
    protein MEF2BNB

    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_001145552.2 → NP_001139024.1  BLOC-1-related complex subunit 8 isoform 1

      See identical proteins and their annotated locations for NP_001139024.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC124327, AI153493, AI480554, AI627072, AK009829, BE623475, BE626539, CX218046
      Consensus CDS
      CCDS52568.1
      UniProtKB/Swiss-Prot
      Q9D6Y4
      Related
      ENSMUSP00000002418.9, ENSMUST00000002418.15
      Conserved Domains (1) summary
      pfam10167
      Location:8 → 114
      NEP; uncharacterized conserved protein

    2. NM_001309645.1 → NP_001296574.1  BLOC-1-related complex subunit 8 isoform 2

      See identical proteins and their annotated locations for NP_001296574.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA270613, BB748920, BE626539, BE984996, BQ556387
      Conserved Domains (1) summary
      pfam10167
      Location:8 → 109
      BORCS8; BLOC-1-related complex sub-unit 8

    3. NM_001309841.1 → NP_001296770.1  BLOC-1-related complex subunit 8 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate 5'-terminal exon, differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC124327, AI153493, AI480554, AI627072, AK009829, BE623475, CX218046
      Consensus CDS
      CCDS85553.1
      UniProtKB/TrEMBL
      D3Z373
      Related
      ENSMUSP00000105766.2, ENSMUST00000110139.2
      Conserved Domains (1) summary
      pfam10167
      Location:2 → 107
      NEP; uncharacterized conserved protein

    RNA

    1. NR_132131.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BB748920, BE626539, BE984996, BQ556387, W13022
      Related
      ENSMUST00000123760.8

    2. NR_132132.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC124327, AI153493, AI480554, AI627072, BC065393, BE623475, BE626539, CX564799

    3. NR_132133.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC124327, AI153493, AI480554, AI627072, AK009829, BE623475, BE626539, CX218046

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      70592149..70601285
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D6Y4.1 GenPept UniProtKB/Swiss-Prot:Q9D6Y4

    Gene LinkOut

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

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