LOCUS       NM_212552                555 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens bolA family member 3 (BOLA3), transcript variant 1,
            mRNA.
ACCESSION   NM_212552
VERSION     NM_212552.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 555)
  AUTHORS   Zhong,H., Janer,A., Khalimonchuk,O., Antonicka,H., Shoubridge,E.A.
            and Barrientos,A.
  TITLE     BOLA3 and NFU1 link mitoribosome iron-sulfur cluster assembly to
            multiple mitochondrial dysfunctions syndrome
  JOURNAL   Nucleic Acids Res 51 (21), 11797-11812 (2023)
   PUBMED   37823603
  REMARK    GeneRIF: BOLA3 and NFU1 link mitoribosome iron-sulfur cluster
            assembly to multiple mitochondrial dysfunctions syndrome.
REFERENCE   2  (bases 1 to 555)
  AUTHORS   Bargagna,B., Banci,L. and Camponeschi,F.
  TITLE     Understanding the Molecular Basis of the Multiple Mitochondrial
            Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of
            BOLA3
  JOURNAL   Int J Mol Sci 24 (14), 11734 (2023)
   PUBMED   37511493
  REMARK    GeneRIF: Understanding the Molecular Basis of the Multiple
            Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg
            Mutation of BOLA3.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 555)
  AUTHORS   Wang,X.F., Lei,W., Liu,C.M., Yang,J. and Zhu,Y.H.
  TITLE     BOLA3 is a prognostic-related biomarker and correlated with immune
            infiltrates in lung adenocarcinoma
  JOURNAL   Int Immunopharmacol 107, 108652 (2022)
   PUBMED   35286914
  REMARK    GeneRIF: BOLA3 is a prognostic-related biomarker and correlated
            with immune infiltrates in lung adenocarcinoma.
REFERENCE   4  (bases 1 to 555)
  AUTHORS   Morgenstern,M., Peikert,C.D., Lubbert,P., Suppanz,I., Klemm,C.,
            Alka,O., Steiert,C., Naumenko,N., Schendzielorz,A., Melchionda,L.,
            Muhlhauser,W.W.D., Knapp,B., Busch,J.D., Stiller,S.B.,
            Dannenmaier,S., Lindau,C., Licheva,M., Eickhorst,C., Galbusera,R.,
            Zerbes,R.M., Ryan,M.T., Kraft,C., Kozjak-Pavlovic,V., Drepper,F.,
            Dennerlein,S., Oeljeklaus,S., Pfanner,N., Wiedemann,N. and
            Warscheid,B.
  TITLE     Quantitative high-confidence human mitochondrial proteome and its
            dynamics in cellular context
  JOURNAL   Cell Metab 33 (12), 2464-2483 (2021)
   PUBMED   34800366
REFERENCE   5  (bases 1 to 555)
  AUTHORS   Saudino,G., Suraci,D., Nasta,V., Ciofi-Baffoni,S. and Banci,L.
  TITLE     Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2
            Caused by CYS59TYR BOLA3 Mutation
  JOURNAL   Int J Mol Sci 22 (9), 4848 (2021)
   PUBMED   34063696
  REMARK    GeneRIF: Molecular Basis of Multiple Mitochondrial Dysfunctions
            Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 555)
  AUTHORS   Haack,T.B., Rolinski,B., Haberberger,B., Zimmermann,F., Schum,J.,
            Strecker,V., Graf,E., Athing,U., Hoppen,T., Wittig,I., Sperl,W.,
            Freisinger,P., Mayr,J.A., Strom,T.M., Meitinger,T. and Prokisch,H.
  TITLE     Homozygous missense mutation in BOLA3 causes multiple mitochondrial
            dysfunctions syndrome in two siblings
  JOURNAL   J Inherit Metab Dis 36 (1), 55-62 (2013)
   PUBMED   22562699
  REMARK    GeneRIF: BOLA3 plays a crucial role in the biogenesis of
            iron-sulfur clusters.
REFERENCE   7  (bases 1 to 555)
  AUTHORS   Cameron,J.M., Janer,A., Levandovskiy,V., Mackay,N., Rouault,T.A.,
            Tong,W.H., Ogilvie,I., Shoubridge,E.A. and Robinson,B.H.
  TITLE     Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3
            cause a fatal deficiency of multiple respiratory chain and
            2-oxoacid dehydrogenase enzymes
  JOURNAL   Am J Hum Genet 89 (4), 486-495 (2011)
   PUBMED   21944046
  REMARK    GeneRIF: Mutations in iron-sulfur cluster scaffold genes NFU1 and
            BOLA3 cause a fatal deficiency of multiple respiratory chain and
            2-oxoacid dehydrogenase enzymes [case report]
REFERENCE   8  (bases 1 to 555)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (bases 1 to 555)
  AUTHORS   Zhou,Y.B., Cao,J.B., Wan,B.B., Wang,X.R., Ding,G.H., Zhu,H.,
            Yang,H.M., Wang,K.S., Zhang,X. and Han,Z.G.
  TITLE     hBolA, novel non-classical secreted proteins, belonging to
            different BolA family with functional divergence
  JOURNAL   Mol Cell Biochem 317 (1-2), 61-68 (2008)
   PUBMED   18548201
  REMARK    GeneRIF: This study reported that all three human BolA proteins
            (hBolA1, hBolA2, and hBolA3) are novel non-classical secreted
            proteins identified with bioinformatics and molecular biology
            experiments.
REFERENCE   10 (bases 1 to 555)
  AUTHORS   Kasai,T., Inoue,M., Koshiba,S., Yabuki,T., Aoki,M., Nunokawa,E.,
            Seki,E., Matsuda,T., Matsuda,N., Tomo,Y., Shirouzu,M., Terada,T.,
            Obayashi,N., Hamana,H., Shinya,N., Tatsuguchi,A., Yasuda,S.,
            Yoshida,M., Hirota,H., Matsuo,Y., Tani,K., Suzuki,H., Arakawa,T.,
            Carninci,P., Kawai,J., Hayashizaki,Y., Kigawa,T. and Yokoyama,S.
  TITLE     Solution structure of a BolA-like protein from Mus musculus
  JOURNAL   Protein Sci 13 (2), 545-548 (2004)
   PUBMED   14718656
  REMARK    GeneRIF: BOLA-like proteins are widely conserved from prokaryotes
            to eukaryotes and may be involved in cell proliferation or
            cell-cycle regulation.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BU600037.1, DQ225187.1 and AC073263.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_212552.2.
            
            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].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1), which is localized to the mitochondria (PMID:21944046).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1163658.105509.1,
                                           SRR1163657.534056.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2152798
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327428.10/ ENSP00000331369.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-38                BU600037.1         6-43
            39-362              DQ225187.1         1-324
            363-555             AC073263.5         63883-64075         c
FEATURES             Location/Qualifiers
     source          1..555
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..555
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /note="bolA family member 3"
                     /db_xref="GeneID:388962"
                     /db_xref="HGNC:HGNC:24415"
                     /db_xref="MIM:613183"
     exon            1..92
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /inference="alignment:Splign:2.1.0"
     CDS             39..362
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     bolA-like protein 3; bolA homolog 3"
                     /codon_start=1
                     /product="bolA-like protein 3 isoform 1"
                     /protein_id="NP_997717.2"
                     /db_xref="CCDS:CCDS33225.1"
                     /db_xref="GeneID:388962"
                     /db_xref="HGNC:HGNC:24415"
                     /db_xref="MIM:613183"
                     /translation="MAAWSPAAAAPLLRGIRGLPLHHRMFATQTEGELRVTQILKEKF
                     PRATAIKVTDISGGCGAMYEIKIESEEFKEKRTVQQHQMVNQALKEEIKEMHGLRIFT
                     SVPKR"
     exon            93..207
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            208..296
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /inference="alignment:Splign:2.1.0"
     exon            297..555
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      518..523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /note="hexamer: ATTAAA"
     regulatory      527..532
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /note="hexamer: AACAAA"
     polyA_site      540
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
                     /note="major polyA site"
     polyA_site      555
                     /gene="BOLA3"
                     /gene_synonym="MMDS2"
ORIGIN      
        1 atacagtgac ctcgggcggc gggtcacgtc ggccgggcat ggctgcatgg agcccggccg
       61 cggcagcgcc tctcctccgc gggatccgcg ggcttccact tcaccatcgg atgtttgcca
      121 ctcagactga gggggagctc agagtgaccc aaattctcaa agaaaagttt ccacgagcta
      181 cagctataaa agtcactgac atttcaggag gttgtggggc gatgtatgaa attaaaattg
      241 aatcagaaga atttaaggag aagagaactg tccagcagca ccagatggtt aatcaggcac
      301 taaaagaaga aatcaaagag atgcatggat tgcggatatt tacctctgtc cccaaacgct
      361 gaccacgccc tggctgcata gatgctgctg cttaagacct tggatgaact tcactgacat
      421 cattcttccc taagcagtca ccaaaaaatt tatatatttt gctcatatac atttccatat
      481 tataattata gaagatgtat aatctattta gatgttaatt aaaggaaaca aacaactgaa
      541 gcttttgaag ggtca
//
