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    BOLA3 bolA family member 3 [ Homo sapiens (human) ]

    Gene ID: 388962, updated on 20-Jun-2021

    Summary

    Official Symbol
    BOLA3provided by HGNC
    Official Full Name
    bolA family member 3provided by HGNC
    Primary source
    HGNC:HGNC:24415
    See related
    Ensembl:ENSG00000163170 MIM:613183
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MMDS2
    Summary
    This gene encodes a protein that plays an essential role in the production of iron-sulfur (Fe-S) clusters for the normal maturation of lipoate-containing 2-oxoacid dehydrogenases, and for the assembly of the mitochondrial respiratory chain complexes. Mutation in this gene has been associated with multiple mitochondrial dysfunctions syndrome-2. Two alternatively spliced transcript variants encoding different isoforms with distinct subcellular localization have been reported for this gene (PMID:21944046). [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in colon (RPKM 17.0), heart (RPKM 15.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See BOLA3 in Genome Data Viewer
    Location:
    2p13.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (74135400..74147912, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74362527..74375039, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985898 Neighboring gene tet methylcytosine dioxygenase 3 Neighboring gene formin binding protein 1 pseudogene 1 Neighboring gene BOLA3 divergent transcript Neighboring gene MOB kinase activator 1A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    bolA-like protein 3
    Names
    bolA homolog 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_031910.1 RefSeqGene

      Range
      5001..17513
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001035505.2NP_001030582.1  bolA-like protein 3 isoform 2

      See identical proteins and their annotated locations for NP_001030582.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal coding exon compared to variant 1. This results in a frame-shift and a shorter isoform (2) with a distinct C-terminus compared to isoform 1. This isoform is localized to the cytoplasm (PMID:21944046).
      Source sequence(s)
      AC073263, BC028282, BU600037
      Consensus CDS
      CCDS33224.1
      UniProtKB/Swiss-Prot
      Q53S33
      UniProtKB/TrEMBL
      Q8N338
      Related
      ENSP00000295326.4, ENST00000295326.4
    2. NM_212552.3NP_997717.2  bolA-like protein 3 isoform 1

      See identical proteins and their annotated locations for NP_997717.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1), which is localized to the mitochondria (PMID:21944046).
      Source sequence(s)
      AC073263, BU600037, DQ225187
      Consensus CDS
      CCDS33225.1
      UniProtKB/Swiss-Prot
      Q53S33
      Related
      ENSP00000331369.5, ENST00000327428.10
      Conserved Domains (1) summary
      cl00386
      Location:35107
      BolA; BolA-like protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      74135400..74147912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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