LOCUS       NM_001371446            2432 bp    mRNA    linear   PRI 09-MAR-2025
DEFINITION  Homo sapiens BCS1 homolog, ubiquinol-cytochrome c reductase complex
            chaperone (BCS1L), transcript variant 10, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001371446 XM_006712678
VERSION     NM_001371446.1
KEYWORDS    RefSeq.
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 2432)
  AUTHORS   Zhan,J., Zeher,A., Huang,R., Tang,W.K., Jenkins,L.M. and Xia,D.
  TITLE     Conformations of Bcs1L undergoing ATP hydrolysis suggest a
            concerted translocation mechanism for folded iron-sulfur protein
            substrate
  JOURNAL   Nat Commun 15 (1), 4655 (2024)
   PUBMED   38821922
  REMARK    GeneRIF: Conformations of Bcs1L undergoing ATP hydrolysis suggest a
            concerted translocation mechanism for folded iron-sulfur protein
            substrate.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2432)
  AUTHORS   Kanako,K.I., Sakakibara,N., Murayama,K., Nagatani,K., Murata,S.,
            Otake,A., Koga,Y., Suzuki,H., Uehara,T., Kosaki,K., Yoshiura,K.I.,
            Mishima,H., Ichimiya,Y., Mushimoto,Y., Horinouchi,T., Nagano,C.,
            Yamamura,T., Iijima,K. and Nozu,K.
  TITLE     BCS1L mutations produce Fanconi syndrome with developmental
            disability
  JOURNAL   J Hum Genet 67 (3), 143-148 (2022)
   PUBMED   34650211
  REMARK    GeneRIF: BCS1L mutations produce Fanconi syndrome with
            developmental disability.
REFERENCE   3  (bases 1 to 2432)
  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   4  (bases 1 to 2432)
  AUTHORS   Hikmat,O., Isohanni,P., Keshavan,N., Ferla,M.P., Fassone,E.,
            Abbott,M.A., Bellusci,M., Darin,N., Dimmock,D., Ghezzi,D.,
            Houlden,H., Invernizzi,F., Kamarus Jaman,N.B., Kurian,M.A.,
            Morava,E., Naess,K., Ortigoza-Escobar,J.D., Parikh,S., Pennisi,A.,
            Barcia,G., Tylleskar,K.B., Brackman,D., Wortmann,S.B., Taylor,J.C.,
            Bindoff,L.A., Fellman,V. and Rahman,S.
  TITLE     Expanding the phenotypic spectrum of BCS1L-related mitochondrial
            disease
  JOURNAL   Ann Clin Transl Neurol 8 (11), 2155-2165 (2021)
   PUBMED   34662929
  REMARK    GeneRIF: Expanding the phenotypic spectrum of BCS1L-related
            mitochondrial disease.
REFERENCE   5  (bases 1 to 2432)
  AUTHORS   Brischigliaro,M., Frigo,E., Corra,S., De Pitta,C., Szabo,I.,
            Zeviani,M. and Costa,R.
  TITLE     Modelling of BCS1L-related human mitochondrial disease in
            Drosophila melanogaster
  JOURNAL   J Mol Med (Berl) 99 (10), 1471-1485 (2021)
   PUBMED   34274978
  REMARK    GeneRIF: Modelling of BCS1L-related human mitochondrial disease in
            Drosophila melanogaster.
REFERENCE   6  (bases 1 to 2432)
  AUTHORS   Petruzzella,V., Tiranti,V., Fernandez,P., Ianna,P., Carrozzo,R. and
            Zeviani,M.
  TITLE     Identification and characterization of human cDNAs specific to
            BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the
            formation and function of the mitochondrial respiratory chain
  JOURNAL   Genomics 54 (3), 494-504 (1998)
   PUBMED   9878253
REFERENCE   7  (bases 1 to 2432)
  AUTHORS   Visapaa,I., Fellman,V., Varilo,T., Palotie,A., Raivio,K.O. and
            Peltonen,L.
  TITLE     Assignment of the locus for a new lethal neonatal metabolic
            syndrome to 2q33-37
  JOURNAL   Am J Hum Genet 63 (5), 1396-1403 (1998)
   PUBMED   9792866
REFERENCE   8  (bases 1 to 2432)
  AUTHORS   Lubianca Neto,J.F., Lu,L., Eavey,R.D., Flores,M.A., Caldera,R.M.,
            Sangwatanaroj,S., Schott,J.J., McDonough,B., Santos,J.I.,
            Seidman,C.E. and Seidman,J.G.
  TITLE     The Bjornstad syndrome (sensorineural hearing loss and pili torti)
            disease gene maps to chromosome 2q34-36
  JOURNAL   Am J Hum Genet 62 (5), 1107-1112 (1998)
   PUBMED   9545407
REFERENCE   9  (bases 1 to 2432)
  AUTHORS   Folsch,H., Guiard,B., Neupert,W. and Stuart,R.A.
  TITLE     Internal targeting signal of the BCS1 protein: a novel mechanism of
            import into mitochondria
  JOURNAL   EMBO J 15 (3), 479-487 (1996)
   PUBMED   8599931
REFERENCE   10 (bases 1 to 2432)
  AUTHORS   Rahman,S. and Thorburn,D.
  TITLE     Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26425749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079810.4 and AC009974.10.
            
            On Jul 12, 2019 this sequence version replaced XM_006712678.1.
            
            Summary: This gene encodes a homolog of the S. cerevisiae bcs1
            protein which is involved in the assembly of complex III of the
            mitochondrial respiratory chain. The encoded protein does not
            contain a mitochondrial targeting sequence but experimental studies
            confirm that it is imported into mitochondria. Mutations in this
            gene are associated with mitochondrial complex III deficiency and
            the GRACILE syndrome. Several alternatively spliced transcripts
            encoding two different isoforms have been described. [provided by
            RefSeq, Jan 2016].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR14038194.2561081.1,
                                           SRR18074969.161469.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1066              AC079810.4         1783-2848
            1067-1435           AC079810.4         3039-3407
            1436-1575           AC079810.4         3506-3645
            1576-1733           AC079810.4         3859-4016
            1734-1770           AC009974.10        1-37
            1771-1834           AC009974.10        281-344
            1835-2004           AC009974.10        594-763
            2005-2122           AC009974.10        967-1084
            2123-2432           AC009974.10        1218-1527
FEATURES             Location/Qualifiers
     source          1..2432
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..2432
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /note="BCS1 homolog, ubiquinol-cytochrome c reductase
                     complex chaperone"
                     /db_xref="GeneID:617"
                     /db_xref="HGNC:HGNC:1020"
                     /db_xref="MIM:603647"
     exon            1..1066
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1067..1435
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             1116..2375
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /EC_number="5.6.1.7"
                     /note="isoform a is encoded by transcript variant 10;
                     mitochondrial chaperone BCS1; mitochondrial complex III
                     assembly; BCS1-like protein; BC1 (ubiquinol-cytochrome c
                     reductase) synthesis-like"
                     /codon_start=1
                     /product="mitochondrial chaperone BCS1 isoform a"
                     /protein_id="NP_001358375.1"
                     /db_xref="CCDS:CCDS2419.1"
                     /db_xref="GeneID:617"
                     /db_xref="HGNC:HGNC:1020"
                     /db_xref="MIM:603647"
                     /translation="MPLSDFILALKDNPYFGAGFGLVGVGTALALARKGVQLGLVAFR
                     RHYMITLEVPARDRSYAWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFVPSPG
                     NHFIWYRGKWIRVERSREMQMIDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQ
                     QEEGKTVMYTAVGSEWRPFGYPRRRRPLNSVVLQQGLADRIVRDVQEFIDNPKWYTDR
                     GIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQ
                     SLVLLEDVDAAFLSRDLAVENPVKYQGLGRLTFSGLLNALDGVASTEARIVFMTTNHV
                     DRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLRATNQIS
                     PAQVQGYFMLYKNDPVGAIHNAESLRR"
     exon            1436..1575
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1576..1770
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1771..1834
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..2004
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2005..2122
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2432
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2413..2418
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /note="hexamer: AATAAA"
     polyA_site      2432
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /note="major polyA site"
ORIGIN      
        1 agcttcccca aggtgcaggc gcggtgaaac catcgagacg gagggccaga gagtcacggc
       61 ggtgagaggg ctgagtgacg ggttacccca aaccatgtgg ctggaggcgc gagctggggt
      121 gtgggcgagg ttcaggaggg ggttcctggg tgtcgcggag gggccgggga cgggagagct
      181 ttgtctgtgg ccttccatgc ataggtgttt tggaattctg gatcccagtt ctgaggctca
      241 gccgaggtca ctgctgtcag ctcacctccc tgcatgccag gcgcagggca aagtggccgg
      301 ggttcggggt tggaggagag gtgtactaga aacaactttg ctcttgtccc tcaggatctt
      361 attgtctacg atgtgacgat ccgtggagaa agtagcagat gggcagattt tcatttgggg
      421 agaatgaggg agaaaagaac gggcattccg agccaagagc actgcatgag caaggagttg
      481 ggaggttgct tacttgttga acatatttgt tgcgtatttg catatttgct aaacaggtag
      541 tgttaggagc taatccatga aaggtaggtg ggcgccgtat tgtagagagc cttgagtacc
      601 aggctgagtt tatacccaat tcaggggtct gctgggagcc agccattgaa ggtgctggag
      661 cagagagaga tatggtattg gagctgatcc ctatgatgaa agatctggac ccttgtgtag
      721 atgttccgtg aagcaggagg tgaagaccta ttaaaatgcc atttcaagaa ctacgatttt
      781 aaagacagtt taggtgggag gtaataaagg tctaaacaag acgttaaata ttggggacgt
      841 aagggggagg atatttgaag gacattactc ataacaagac atagggttac tgacaagtca
      901 acggacgctt ctcccttgct gactgcagcc aatggacccc tttttatcat agctggtccc
      961 agggaccaca aaaatcctgt ccatccatta ccctgatgtg aagcctgttt atatagctct
     1021 ttttggttta aggcatctcc agacatggtc ctctggtagg aaacaggttt tcgtaacacc
     1081 ccagggcctg taaggtttgg tgtttccctt tcaagatgcc actttcagac tttattctgg
     1141 ctctgaagga caatccctac tttggggctg gatttgggct ggtgggtgtg ggcacagccc
     1201 tggccctggc ccggaagggt gtccaactgg gcctggtggc attccggcgc cattacatga
     1261 tcacactgga agtccctgct cgagacagga gctatgcctg gttgcttagc tggctcaccc
     1321 gccacagtac ccgtactcag cacctcagtg tcgagacttc gtaccttcag catgagagtg
     1381 gccgcatttc cactaagttt gaatttgtcc ccagccctgg aaaccatttt atctggtatc
     1441 gggggaaatg gattcgggta gaacgaagtc gagagatgca gatgatagac ttgcagacgg
     1501 ggactccttg ggaatctgtc accttcacgg ccctgggcac tgaccgaaag gttttcttca
     1561 acatcctgga ggaagctcga gagctagcct tgcagcagga ggaagggaag accgtgatgt
     1621 acacagctgt gggctctgaa tggcgtccct ttggctatcc acgccgccgg cgaccactga
     1681 attctgtggt tctacaacag ggtctggctg accgaattgt cagagacgtc caggaattca
     1741 tcgataaccc caagtggtac actgacagag gcattcctta cagacgtggc tacctgcttt
     1801 atgggccccc tggttgcgga aagagcagtt ttatcacagc cctggctggg gaactggagc
     1861 acagcatctg cctgctgagc ctcacggact ccagcctctc tgatgaccga ctcaaccacc
     1921 tgctgagcgt ggccccgcag cagagcctgg tactcctgga ggatgtggat gctgcttttc
     1981 tcagtcgaga cttggctgtg gagaacccag taaagtacca aggcctaggt cgcctcacct
     2041 tcagtggact gctcaatgcc ttggatggtg tggcttccac cgaggcccgc atcgtgttca
     2101 tgaccaccaa ccacgttgac aggctggacc ctgccctgat acgcccgggg cgagtggacc
     2161 tgaaggagta cgtgggctac tgctcacact ggcagctgac ccagatgttc cagaggttct
     2221 atccagggca ggcaccttcc ttagctgaga actttgcaga acatgtcctt cgagctacaa
     2281 accagatcag tcctgcccag gtgcagggct acttcatgct gtataaaaat gaccctgtag
     2341 gggcaattca caatgctgag tctctgagga ggtgatcagg ctgggctcag ctcagctctc
     2401 ctcctctagc tcaataaaca tctgccacac ta
//
