LOCUS       NM_001079866            1427 bp    mRNA    linear   PRI 09-MAR-2025
DEFINITION  Homo sapiens BCS1 homolog, ubiquinol-cytochrome c reductase complex
            chaperone (BCS1L), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001079866
VERSION     NM_001079866.2
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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 1427)
  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 DA540458.1 and AF038195.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001079866.1.
            
            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].
            
            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 :: AF038195.1, SRR3476690.626547.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000359273.8/
                                                  ENSP00000352219.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-35                DA540458.1         28-62
            36-1427             AF038195.1         1-1392
FEATURES             Location/Qualifiers
     source          1..1427
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q35"
     gene            1..1427
                     /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..61
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            62..430
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     CDS             111..1370
                     /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 2;
                     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_001073335.1"
                     /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            431..570
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            571..765
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            766..829
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            830..999
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1000..1117
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1427
                     /gene="BCS1L"
                     /gene_synonym="BCS; BCS1; BJS; FLNMS; GRACILE; h-BCS;
                     h-BCS1; Hs.6719; MC3DN1; PTD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1408..1413
                     /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      1427
                     /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 ggttttcgta acaccccagg gcctgtaagg tttggtgttt ccctttcaag atgccacttt
      121 cagactttat tctggctctg aaggacaatc cctactttgg ggctggattt gggctggtgg
      181 gtgtgggcac agccctggcc ctggcccgga agggtgtcca actgggcctg gtggcattcc
      241 ggcgccatta catgatcaca ctggaagtcc ctgctcgaga caggagctat gcctggttgc
      301 ttagctggct cacccgccac agtacccgta ctcagcacct cagtgtcgag acttcgtacc
      361 ttcagcatga gagtggccgc atttccacta agtttgaatt tgtccccagc cctggaaacc
      421 attttatctg gtatcggggg aaatggattc gggtagaacg aagtcgagag atgcagatga
      481 tagacttgca gacggggact ccttgggaat ctgtcacctt cacggccctg ggcactgacc
      541 gaaaggtttt cttcaacatc ctggaggaag ctcgagagct agccttgcag caggaggaag
      601 ggaagaccgt gatgtacaca gctgtgggct ctgaatggcg tccctttggc tatccacgcc
      661 gccggcgacc actgaattct gtggttctac aacagggtct ggctgaccga attgtcagag
      721 acgtccagga attcatcgat aaccccaagt ggtacactga cagaggcatt ccttacagac
      781 gtggctacct gctttatggg ccccctggtt gcggaaagag cagttttatc acagccctgg
      841 ctggggaact ggagcacagc atctgcctgc tgagcctcac ggactccagc ctctctgatg
      901 accgactcaa ccacctgctg agcgtggccc cgcagcagag cctggtactc ctggaggatg
      961 tggatgctgc ttttctcagt cgagacttgg ctgtggagaa cccagtaaag taccaaggcc
     1021 taggtcgcct caccttcagt ggactgctca atgccttgga tggtgtggct tccaccgagg
     1081 cccgcatcgt gttcatgacc accaaccacg ttgacaggct ggaccctgcc ctgatacgcc
     1141 cggggcgagt ggacctgaag gagtacgtgg gctactgctc acactggcag ctgacccaga
     1201 tgttccagag gttctatcca gggcaggcac cttccttagc tgagaacttt gcagaacatg
     1261 tccttcgagc tacaaaccag atcagtcctg cccaggtgca gggctacttc atgctgtata
     1321 aaaatgaccc tgtaggggca attcacaatg ctgagtctct gaggaggtga tcaggctggg
     1381 ctcagctcag ctctcctcct ctagctcaat aaacatctgc cacacta
//
