LOCUS       NM_001305652            1824 bp    mRNA    linear   ROD 09-MAR-2025
DEFINITION  Mus musculus BCS1 homolog, ubiquinol-cytochrome c reductase complex
            chaperone (Bcs1l), transcript variant 2, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_001305652 XM_006496196
VERSION     NM_001305652.1
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 1824)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 1824)
  AUTHORS   Xia,D.
  TITLE     Structural snapshots of the cellular folded protein translocation
            machinery Bcs1
  JOURNAL   FEBS J 288 (9), 2870-2883 (2021)
   PUBMED   32979284
  REMARK    GeneRIF: Structural snapshots of the cellular folded protein
            translocation machinery Bcs1.
REFERENCE   3  (bases 1 to 1824)
  AUTHORS   Cheong,A., Archambault,D., Degani,R., Iverson,E., Tremblay,K.D. and
            Mager,J.
  TITLE     Nuclear-encoded mitochondrial ribosomal proteins are required to
            initiate gastrulation
  JOURNAL   Development 147 (10) (2020)
   PUBMED   32376682
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1824)
  AUTHORS   Tang,W.K., Borgnia,M.J., Hsu,A.L., Esser,L., Fox,T., de Val,N. and
            Xia,D.
  TITLE     Structures of AAA protein translocase Bcs1 suggest translocation
            mechanism of a folded protein
  JOURNAL   Nat Struct Mol Biol 27 (2), 202-209 (2020)
   PUBMED   32042153
  REMARK    GeneRIF: This study reports structures of mouse BCS1L in two
            different conformations, representing three nucleotide states. The
            apo and ADP-bound structures reveal a homo-heptamer and show a
            large putative substrate-binding cavity accessible to the matrix
            space. ATP binding drives a contraction of the cavity by concerted
            motion of the ATPase domains, which could push substrate across the
            membrane.
REFERENCE   5  (bases 1 to 1824)
  AUTHORS   Davoudi,M., Kotarsky,H., Hansson,E. and Fellman,V.
  TITLE     Complex I function and supercomplex formation are preserved in
            liver mitochondria despite progressive complex III deficiency
  JOURNAL   PLoS One 9 (1), e86767 (2014)
   PUBMED   24466228
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1824)
  AUTHORS   Koscielny,G., Yaikhom,G., Iyer,V., Meehan,T.F., Morgan,H.,
            Atienza-Herrero,J., Blake,A., Chen,C.K., Easty,R., Di Fenza,A.,
            Fiegel,T., Grifiths,M., Horne,A., Karp,N.A., Kurbatova,N.,
            Mason,J.C., Matthews,P., Oakley,D.J., Qazi,A., Regnart,J.,
            Retha,A., Santos,L.A., Sneddon,D.J., Warren,J., Westerberg,H.,
            Wilson,R.J., Melvin,D.G., Smedley,D., Brown,S.D., Flicek,P.,
            Skarnes,W.C., Mallon,A.M. and Parkinson,H.
  TITLE     The International Mouse Phenotyping Consortium Web Portal, a
            unified point of access for knockout mice and related phenotyping
            data
  JOURNAL   Nucleic Acids Res 42 (Database issue), D802-D809 (2014)
   PUBMED   24194600
REFERENCE   7  (bases 1 to 1824)
  AUTHORS   Kotarsky,H., Keller,M., Davoudi,M., Leveen,P., Karikoski,R.,
            Enot,D.P. and Fellman,V.
  TITLE     Metabolite profiles reveal energy failure and impaired
            beta-oxidation in liver of mice with complex III deficiency due to
            a BCS1L mutation
  JOURNAL   PLoS One 7 (7), e41156 (2012)
   PUBMED   22829922
  REMARK    GeneRIF: Metabolite profiles reveal energy failure and impaired
            beta-oxidation in liver of mice with complex III deficiency due to
            a BCS1L mutation.
REFERENCE   8  (bases 1 to 1824)
  AUTHORS   Leveen,P., Kotarsky,H., Morgelin,M., Karikoski,R., Elmer,E. and
            Fellman,V.
  TITLE     The GRACILE mutation introduced into Bcs1l causes postnatal complex
            III deficiency: a viable mouse model for mitochondrial hepatopathy
  JOURNAL   Hepatology 53 (2), 437-447 (2011)
   PUBMED   21274865
  REMARK    GeneRIF: The GRACILE mutation introduced into Bcs1l causes
            postnatal complex III deficiency and is a viable mouse model for
            mitochondrial hepatopathy.
REFERENCE   9  (bases 1 to 1824)
  AUTHORS   Kotarsky,H., Tabasum,I., Mannisto,S., Heikinheimo,M., Hansson,S.
            and Fellman,V.
  TITLE     BCS1L is expressed in critical regions for neural development
            during ontogenesis in mice
  JOURNAL   Gene Expr Patterns 7 (3), 266-273 (2007)
   PUBMED   17049929
  REMARK    GeneRIF: The predominant expression of BCS1L in the floor plate of
            the neural tube region, together with its presence in peripheral
            ganglia from E13 onwards, indicates a role for BCS1L in the
            development of neural structures.
REFERENCE   10 (bases 1 to 1824)
  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
  REMARK    GeneRIF: Studies in the yeast BCS1 ortholog indicate that the Bcs1
            protein is anchored in the mitochondrial inner membrane, despite
            the absence of an N-terminal targeting sequence. Targeting occurs
            via charged amino acids near the transmembrane domain that act as
            an internal targeting signal.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BY265931.1, AK079385.1 and
            AW489767.1.
            
            On Mar 26, 2015 this sequence version replaced XM_006496196.2.
            
            Summary: The protein encoded by this gene is a chaperone protein
            that is involved in the assembly of complex III (CIII), one of the
            five protein complexes of the mitochondrial respiratory chain, and
            is necessary for the insertion of the Rieske iron-sulfur (RISP) and
            Qcr10p proteins into the precomplex. Studies from the yeast
            ortholog of this protein indicate that it is targeted to the inner
            membrane of the mitochondria, despite the absence of an N-terminal
            targeting sequence. Positively charged amino acids located
            C-terminal to the transmembrane domain are thought to act as an
            internal targeting signal (PMID:8599931). Mutations in the human
            ortholog of this gene have been associated with GRACILE syndrome,
            characterized by Growth retardation, Amino aciduria, Cholestasis,
            Iron overload, Lactic acidosis, and Early death. Mouse models with
            the corresponding mutation mimic the phenotype of GRACILE syndrome
            and display decreased complex III activity and decreased electron
            transport capacity (PMID:21274865). Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Mar 2015].
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR compared to variant 1. Both variants 1 and 2 encode
            the same protein.
            
            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 :: BC019781.1, SRR7345562.1421701.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN00849374, SAMN00849375
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-298               BY265931.1         2-299
            299-1663            AK079385.1         322-1686
            1664-1824           AW489767.1         1-161               c
FEATURES             Location/Qualifiers
     source          1..1824
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 38.54 cM"
     gene            1..1824
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /note="BCS1 homolog, ubiquinol-cytochrome c reductase
                     complex chaperone"
                     /db_xref="GeneID:66821"
                     /db_xref="MGI:MGI:1914071"
     exon            1..105
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            106..498
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..1435
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /EC_number="5.6.1.7"
                     /note="BCS1-like protein"
                     /codon_start=1
                     /product="mitochondrial chaperone BCS1"
                     /protein_id="NP_001292581.1"
                     /db_xref="CCDS:CCDS15051.1"
                     /db_xref="GeneID:66821"
                     /db_xref="MGI:MGI:1914071"
                     /translation="MPFSDFVLALKDNPYFGAGFGLVGVGTALAMARKGAQLGLVAFR
                     RHYMITLEVPARDRSYAWLLSWLTRHSTRTQHLSVETSYLQHESGRISTKFEFIPSPG
                     NHFIWYQGKWIRVERNRDMQMVDLQTGTPWESVTFTALGTDRKVFFNILEEARALALQ
                     QEEGKTVMYTAVGSEWRTFGYPRRRRPLDSVVLQQGLADRIVKDIREFIDNPKWYIDR
                     GIPYRRGYLLYGPPGCGKSSFITALAGELEHSICLLSLTDSSLSDDRLNHLLSVAPQQ
                     SLVLLEDVDAAFLSRDLAVENPIKYQGLGRLTFSGLLNALDGVASTEARIVFMTTNYI
                     DRLDPALIRPGRVDLKEYVGYCSHWQLTQMFQRFYPGQAPSLAENFAEHVLKATSEIS
                     PAQVQGYFMLYKNDPMGAVHNIESLR"
     exon            499..638
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            639..833
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            834..897
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            898..1067
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1185
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1186..1807
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1468..1473
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /note="hexamer: CATAAA"
     polyA_site      1488
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /note="major polyA site"
     regulatory      1535..1540
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /note="hexamer: AATAAA"
     polyA_site      1560
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
     regulatory      1788..1793
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
                     /note="hexamer: TATAAA"
     polyA_site      1807
                     /gene="Bcs1l"
                     /gene_synonym="9130022O19Rik"
ORIGIN      
        1 ttcgtaggcc cggcgaaacc atcgagtgtg agggccagag agtcatggag ggaagggggc
       61 ggagtgacag atttctctct cccacgttcc tggaagcgcg agcagttctg ctacaatcca
      121 tccctcggtt ttgacagtgc ctcagagcct ataagcatct gtgctgcttc ttttcaagat
      181 gccattttca gactttgttc tggcccttaa agacaatccc tactttgggg ctggatttgg
      241 gctggtaggt gtgggtacgg ctctggctat ggcccggaaa ggagcccagt tgggtctagt
      301 ggcattccgg cgccattaca tgatcacact ggaagtccct gccagagaca gaagctatgc
      361 ctggttgctt agctggctta cccgacacag cacccgcact cagcacctca gtgttgaaac
      421 ctcatacctt cagcatgaaa gtggccggat ctccaccaag tttgaattta tccccagccc
      481 tggaaaccac ttcatttggt atcagggaaa atggatccgg gtagaacgaa accgagacat
      541 gcagatggta gacttgcaaa cagggactcc ttgggaatct gtcaccttca cggccctggg
      601 cactgaccga aaggttttct tcaacatcct ggaagaagct cgagcactgg ccctgcagca
      661 ggaggaaggg aagactgtga tgtacacagc tgtggggtct gaatggcgta cctttggtta
      721 tccgcgccga cgtcggccac tggattctgt agtcctacag cagggtctgg ctgaccgaat
      781 tgtcaaagat atccgggaat ttattgataa ccccaagtgg tacattgaca gaggcattcc
      841 ctacagacgt ggctaccttc tttatgggcc ccctggttgt ggaaagagca gttttataac
      901 agccctggct ggagaactgg aacacagcat ctgcctgctc agcctcacag actctagcct
      961 ctcagatgac cggctcaacc atctactgag tgtagcacca cagcagagct tggtgctcct
     1021 ggaagatgtg gatgctgctt ttctcagtag agacttggct gtggagaacc ctataaagta
     1081 ccaaggacta ggccgcctca ccttcagtgg actgcttaat gctttggatg gtgtagcctc
     1141 cactgaagca cgaattgtgt tcatgaccac caactacatt gacaggctgg atcctgccct
     1201 catacgtccc gggcgagtag atctgaagga gtatgtgggc tactgctcac actggcagct
     1261 gacccagatg ttccagaggt tctatccagg gcaagcacct tctttggctg agaactttgc
     1321 tgaacatgtc cttaaagcta catctgagat tagtcctgcc caggtgcaag gctacttcat
     1381 gctgtataaa aatgacccca tgggggctgt tcacaacatt gaatctctga ggtgacccac
     1441 caggccatga tctgctctca aaaattccat aaacacctgt cacactaatc aggcttgtgc
     1501 ctttcctccc tccattgctg tgtttgtact tgagaataaa atgagttgcc atagcaggta
     1561 cctacaagat ctacatctac aaatgatggg gccatggcct gaggacaggg gagtgagtgt
     1621 taatggaaaa tatacatgca atcatgaaag gccacccaaa taagatacat tgttgccctg
     1681 tgttgtggca cacagtcccc tcctgccccc ccccccccca ttggcttatt tgttttgttt
     1741 ttgagacaga cttctctgta tagtcctggc tgtcctggaa cttgttctat aaatcaggct
     1801 aaagatcaaa aaaaaaaaaa aaaa
//
