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

Gene ID: 72368, updated on 2-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 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

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