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    Bola3 bolA family member 3 [ Mus musculus (house mouse) ]

    Gene ID: 78653, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Bola3provided by MGI
    Official Full Name
    bolA family member 3provided by MGI
    Primary source
    MGI:MGI:1925903
    See related
    Ensembl:ENSMUSG00000045160 AllianceGenome:MGI:1925903
    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
    1810056O20Rik
    Summary
    Acts upstream of or within several processes, including energy homeostasis; protein lipoylation; and response to lipoic acid. Is active in mitochondrion. Human ortholog(s) of this gene implicated in multiple mitochondrial dysfunctions syndrome 2. Orthologous to human BOLA3 (bolA family member 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 34.5), liver E14.5 (RPKM 31.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bola3 in Genome Data Viewer
    Location:
    6 C3; 6 35.94 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (83326129..83337118)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (83349147..83360136)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E4836 Neighboring gene STARR-positive B cell enhancer ABC_E1323 Neighboring gene methylenetetrahydrofolate dehydrogenase (NAD+ dependent), methenyltetrahydrofolate cyclohydrolase Neighboring gene STARR-positive B cell enhancer ABC_E6448 Neighboring gene STARR-seq mESC enhancer starr_16463 Neighboring gene MOB kinase activator 1A Neighboring gene tet methylcytosine dioxygenase 3 Neighboring gene microRNA 6374 Neighboring gene STARR-positive B cell enhancer ABC_E4837 Neighboring gene RIKEN cDNA B230319C09 gene

    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. Mitochondrial lipoylation integrates age-associated decline in brown fat thermogenesis. Tajima K, et al. Nat Metab, 2019 Sep. PMID 32313871, Free PMC Article
    2. BOLA (BolA Family Member 3) Deficiency Controls Endothelial Metabolism and Glycine Homeostasis in Pulmonary Hypertension. Yu Q, et al. Circulation, 2019 May 7. PMID 30759996, Free PMC Article
    3. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    4. GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Visel A, et al. Nucleic Acids Res, 2004 Jan 1. PMID 14681479, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (19) 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) 

    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
    acts_upstream_of_or_within adaptive thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within energy homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within glucose metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within iron-sulfur cluster assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein lipoylation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein maturation by [4Fe-4S] cluster transfer IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within response to lipoic acid IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of iron-sulfur cluster assembly complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    bolA-like protein 3
    Names
    bolA-like 3

    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_001363772.1 → NP_001350701.1  bolA-like protein 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC159713, BC049748, CO039842
      Consensus CDS
      CCDS90068.1
      UniProtKB/TrEMBL
      E9Q705
      Related
      ENSMUSP00000113439.2, ENSMUST00000122216.8
      Conserved Domains (1) summary
      cl00386
      Location:23 → 94
      BolA; BolA-like protein

    2. NM_001363773.1 → NP_001350702.1  bolA-like protein 3 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC159713, CF981442, CO039842
      Consensus CDS
      CCDS90069.1
      UniProtKB/TrEMBL
      E9PX89
      Related
      ENSMUSP00000112582.2, ENSMUST00000120040.8
      Conserved Domains (1) summary
      cl00386
      Location:64 → 135
      BolA; BolA-like protein

    3. NM_175277.5 → NP_780486.1  bolA-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_780486.1

      Status: VALIDATED

      Source sequence(s)
      AC159713
      Consensus CDS
      CCDS20278.1
      UniProtKB/Swiss-Prot
      Q8CEI1
      UniProtKB/TrEMBL
      Q14A77
      Related
      ENSMUSP00000118348.2, ENSMUST00000136501.2
      Conserved Domains (1) summary
      cl00386
      Location:38 → 109
      BolA; BolA-like 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
      83326129..83337118
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152401.1 → XP_036008294.1  bolA-like protein 3 isoform X1

      Conserved Domains (1) summary
      cl00386
      Location:38 → 90
      BolA; BolA-like protein

    2. XM_017321834.1 → XP_017177323.1  bolA-like protein 3 isoform X2

      Conserved Domains (1) summary
      cl00386
      Location:65 → 136
      BolA; BolA-like protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CEI1.1 GenPept UniProtKB/Swiss-Prot:Q8CEI1

    Gene LinkOut

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

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