LOCUS       NM_005015               2806 bp    mRNA    linear   PRI 02-FEB-2025
DEFINITION  Homo sapiens OXA1L mitochondrial inner membrane insertase (OXA1L),
            mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_005015
VERSION     NM_005015.5
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 2806)
  AUTHORS   Poerschke,S., Oeljeklaus,S., Cruz-Zaragoza,L.D., Schenzielorz,A.,
            Dahal,D., Hillen,H.S., Das,H., Kremer,L.S., Valpadashi,A.,
            Breuer,M., Sattmann,J., Richter-Dennerlein,R., Warscheid,B.,
            Dennerlein,S. and Rehling,P.
  TITLE     Identification of TMEM126A as OXA1L-interacting protein reveals
            cotranslational quality control in mitochondria
  JOURNAL   Mol Cell 84 (2), 345-358 (2024)
   PUBMED   38199007
REFERENCE   2  (bases 1 to 2806)
  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   3  (bases 1 to 2806)
  AUTHORS   Itoh,Y., Andrell,J., Choi,A., Richter,U., Maiti,P., Best,R.B.,
            Barrientos,A., Battersby,B.J. and Amunts,A.
  TITLE     Mechanism of membrane-tethered mitochondrial protein synthesis
  JOURNAL   Science 371 (6531), 846-849 (2021)
   PUBMED   33602856
  REMARK    GeneRIF: Mechanism of membrane-tethered mitochondrial protein
            synthesis.
REFERENCE   4  (bases 1 to 2806)
  AUTHORS   Thompson,K., Mai,N., Olahova,M., Scialo,F., Formosa,L.E.,
            Stroud,D.A., Garrett,M., Lax,N.Z., Robertson,F.M., Jou,C.,
            Nascimento,A., Ortez,C., Jimenez-Mallebrera,C., Hardy,S.A., He,L.,
            Brown,G.K., Marttinen,P., McFarland,R., Sanz,A., Battersby,B.J.,
            Bonnen,P.E., Ryan,M.T., Chrzanowska-Lightowlers,Z.M.,
            Lightowlers,R.N. and Taylor,R.W.
  TITLE     OXA1L mutations cause mitochondrial encephalopathy and a combined
            oxidative phosphorylation defect
  JOURNAL   EMBO Mol Med 10 (11) (2018)
   PUBMED   30201738
REFERENCE   5  (bases 1 to 2806)
  AUTHORS   Sato,T. and Mihara,K.
  TITLE     Topogenesis of mammalian Oxa1, a component of the mitochondrial
            inner membrane protein export machinery
  JOURNAL   J Biol Chem 284 (22), 14819-14827 (2009)
   PUBMED   19349278
  REMARK    GeneRIF: Topogenesis of Oxa1 is a cooperative event of all five
            transmembrane segments (TM), and hexapeptide GLPWWG followed
            immediately by TM1 is essential for correct Oxa1 topogenesis.
REFERENCE   6  (bases 1 to 2806)
  AUTHORS   Stiburek,L., Fornuskova,D., Wenchich,L., Pejznochova,M.,
            Hansikova,H. and Zeman,J.
  TITLE     Knockdown of human Oxa1l impairs the biogenesis of F1Fo-ATP
            synthase and NADH:ubiquinone oxidoreductase
  JOURNAL   J Mol Biol 374 (2), 506-516 (2007)
   PUBMED   17936786
REFERENCE   7  (bases 1 to 2806)
  AUTHORS   Stuart,R.
  TITLE     Insertion of proteins into the inner membrane of mitochondria: the
            role of the Oxa1 complex
  JOURNAL   Biochim Biophys Acta 1592 (1), 79-87 (2002)
   PUBMED   12191770
  REMARK    Review article
REFERENCE   8  (bases 1 to 2806)
  AUTHORS   Rotig,A., Parfait,B., Heidet,L., Dujardin,G., Rustin,P. and
            Munnich,A.
  TITLE     Sequence and structure of the human OXA1L gene and its upstream
            elements
  JOURNAL   Biochim Biophys Acta 1361 (1), 6-10 (1997)
   PUBMED   9247084
REFERENCE   9  (bases 1 to 2806)
  AUTHORS   Molina-Gomes,D., Bonnefoy,N., Nguyen,V.C., Viegas-Pequignot,E.,
            Rotig,A. and Dujardin,G.
  TITLE     The OXA1L gene that controls cytochrome oxidase assembly maps to
            the 14q11.2 region of the human genome
  JOURNAL   Genomics 30 (2), 396-398 (1995)
   PUBMED   8586451
REFERENCE   10 (bases 1 to 2806)
  AUTHORS   Bonnefoy,N., Kermorgant,M., Groudinsky,O., Minet,M., Slonimski,P.P.
            and Dujardin,G.
  TITLE     Cloning of a human gene involved in cytochrome oxidase assembly by
            functional complementation of an oxa1- mutation in Saccharomyces
            cerevisiae
  JOURNAL   Proc Natl Acad Sci U S A 91 (25), 11978-11982 (1994)
   PUBMED   7991568
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC112331.1, BP303816.1,
            AK298249.1, BQ029315.1 and AL135998.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_005015.4.
            
            Summary: This gene encodes an evolutionarily conserved protein that
            is localized to the inner mitochondrial membrane. The encoded
            protein is essential for the translocation of the N-terminal tail
            of subunit 2 of cytochrome c oxidase, and is involved in the
            assembly of the cytochrome c oxidase and ATPase complexes of the
            mitochondrial respiratory chain. [provided by RefSeq, Jul 2016].
            
            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 :: SRR1660807.103010.1,
                                           SRR7410570.533835.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000612549.6/
                                                  ENSP00000483491.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-144               BC112331.1         167-310
            145-538             BP303816.1         143-536
            539-1054            BC112331.1         705-1220
            1055-1445           AK298249.1         1065-1455
            1446-1553           BQ029315.1         19-126              c
            1554-2806           AL135998.6         132142-133394       c
FEATURES             Location/Qualifiers
     source          1..2806
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..2806
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /note="OXA1L mitochondrial inner membrane insertase"
                     /db_xref="GeneID:5018"
                     /db_xref="HGNC:HGNC:8526"
                     /db_xref="MIM:601066"
     exon            1..77
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1322
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /note="OXA1-like protein; oxidase (cytochrome c) assembly
                     1-like; epididymis secretory sperm binding protein; OXA1L
                     mitochondrial inner membrane protein"
                     /codon_start=1
                     /product="mitochondrial inner membrane protein OXA1L"
                     /protein_id="NP_005006.4"
                     /db_xref="CCDS:CCDS9573.2"
                     /db_xref="GeneID:5018"
                     /db_xref="HGNC:HGNC:8526"
                     /db_xref="MIM:601066"
                     /translation="MAMGLMCGRRELLRLLQSGRRVHSVAGPSQWLGKPLTTRLLFPA
                     APCCCRPHYLFLAASGPRSLSTSAISFAEVQVQAPPVVAATPSPTAVPEVASGETADV
                     VQTAAEQSFAELGLGSYTPVGLIQNLLEFMHVDLGLPWWGAIAACTVFARCLIFPLIV
                     TGQREAARIHNHLPEIQKFSSRIREAKLAGDHIEYYKASSEMALYQKKHGIKLYKPLI
                     LPVTQAPIFISFFIALREMANLPVPSLQTGGLWWFQDLTVSDPIYILPLAVTATMWAV
                     LELGAETGVQSSDLQWMRNVIRMMPLITLPITMHFPTAVFMYWLSSNLFSLVQVSCLR
                     IPAVRTVLKIPQRVVHDLDKLPPREGFLESFKKGWKNAEMTRQLREREQRMRNQLELA
                     ARGPLRQTFTHNPLLQPGKDNPPNIPSSSSKPKSKYPWHDTLG"
     exon            78..239
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            240..453
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..597
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            598..683
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            684..848
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            849..953
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            954..1116
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1117..1197
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1198..2806
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1530..1535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /note="hexamer: AGTAAA"
     polyA_site      1548
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /note="major polyA site"
     regulatory      1926..1931
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /note="hexamer: AATATA"
     polyA_site      1947
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
     polyA_site      2303
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
     regulatory      2381..2386
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
                     /note="hexamer: AATATA"
     polyA_site      2409
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
     polyA_site      2435
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
     polyA_site      2806
                     /gene="OXA1L"
                     /gene_synonym="OXA1; OXA1L1"
ORIGIN      
        1 ctcttccggg caaaatggcg atgggactaa tgtgcggacg ccgggagctt ctgcgcttgc
       61 tacagtccgg gcgtcgggtc cacagcgtcg cagggccctc gcaatggctt gggaaaccgc
      121 tgaccacacg gctcctattc ccagcagccc cgtgctgctg tcgcccacac tacctcttcc
      181 ttgcggcttc cggcccccgc agcctcagta cctctgctat ctcttttgca gaagtccagg
      241 ttcaggcccc tcctgttgtt gctgcaactc cctcacccac agcagtacct gaggtggctt
      301 ctggagagac tgcagatgta gtccaaactg ctgcagagca gagcttcgct gaactggggc
      361 tggggtcata caccccagtg ggactgatcc agaatttact ggaatttatg catgttgatc
      421 tgggcctacc ttggtggggg gccattgctg catgtacagt ctttgcccgc tgcctgattt
      481 ttcctctcat cgtgacgggc cagcgagagg cagccaggat ccacaatcac ttgccagaga
      541 tccagaagtt ttccagtcga atcagagagg ccaagttagc aggagaccat attgagtatt
      601 acaaggcttc ctcggagatg gcactttacc agaaaaaaca tggtattaaa ctctataaac
      661 ctctcattct ccctgtgact caggccccaa tcttcatctc cttcttcatt gctttgagag
      721 agatggccaa ccttcctgtg cccagcctgc agacaggtgg cctctggtgg ttccaggatc
      781 tcacggtatc cgatcccatc tacatattac cactggcagt cactgctaca atgtgggctg
      841 ttcttgagct aggtgctgag acaggtgtgc aaagttctga ccttcagtgg atgagaaatg
      901 tcatcagaat gatgcccctg ataaccttgc ccataaccat gcatttcccc acggcagtgt
      961 ttatgtactg gctctcctcc aatttgtttt ccctggtcca agtatcctgt ctccggattc
     1021 cagcagtacg cactgtactt aaaatccccc agcgtgttgt acatgacctg gacaaattac
     1081 ctccacggga aggcttccta gagagcttca aaaaaggctg gaaaaatgct gaaatgacgc
     1141 gtcagctgcg agagcgtgaa caacgcatgc ggaatcagtt ggagctagca gccaggggtc
     1201 ctttacgaca gacctttacc cacaaccctc tcctacaacc tggaaaggat aaccctccca
     1261 atatccctag cagcagcagc aaaccaaagt caaagtatcc ctggcacgac acacttggct
     1321 gacttatgtt ctgtgcgcat tctggcagga attctgtctc ttcagagact catcctcaaa
     1381 acaagacttg acactgtgtc cttgccccag tcctaggaac tgtggcacac agagatgttc
     1441 attttaaaaa cggatttcat gaaacactct tgtacttatg tttataagag agcactgggt
     1501 agccaagtga tcttcccatt cacagagtta gtaaacctct gtactacatg ctgcttcctg
     1561 atacttattg aacagggaaa tcagtgtgca cttcagaaaa ctgaagaata cccagcattt
     1621 tgggaggccg aggtgggtgg atcacctgag atcaggagtt tgagaccagc ctggccaaca
     1681 tggggaaacg ccatctctgc tgttttacaa aaatagccac acgtggtggt gcacacctgt
     1741 agtcccagct actcgggagg ctgaggcagg agaattgctt gaatccgaga ggcggaggtt
     1801 gcagtgagcc aagatcgcac caccgcactc cagcctgggc aatagaggga gactgtctca
     1861 aaaaaaaaag aaaactgaag aatagagtga gtcatgattg cttttgctgg cccatggcct
     1921 tggaaaatat aatgttttaa cctggcatta agggtttaaa cttccaccca ggcgcagtgg
     1981 ctcacgccag taatcccagc acttttggga ggccaaggcg ggcggatcac gaagtcagca
     2041 gatcgagacc atcctggcca acatggtgaa accccgtctc tactaaaaaa aaaaaaaaaa
     2101 aaattagccg ggcatggcgg cgggtgcctg tattcccagc tacttgggag gctgaggcag
     2161 gagaatggcg tgaacccagg aggcagagct tgcagtgagc cgagattgcg ccactgcact
     2221 ccagcctggg caagagagtg agactccttc tcaaaaaaaa aaaaaaaaaa aaaaaaaaaa
     2281 aaacagttta aacttccaac ccatgcatgt gttgttctat gcacatttgg attgcagtct
     2341 agaggtgtgg ctgataagtt gaatgttgag attgtatcta aatatagtaa ccgcacttct
     2401 tgatcccaag attactttaa aaatttcaag aagtagatgt gtgcaaattc ttagtgataa
     2461 ttaagaatga aagttccagg ctgggcaaag tggctcacac ctataatctc agcactttgg
     2521 gaggctgagg tgggtagatc acttgagtcc aggaatttga gaccagcctg ggcaacatgg
     2581 cgagaccttg tctctgctaa aaagttagct gagcatggtg gtgcttgtcc atagtcccag
     2641 ctacctggga ggctgaggtg ggaggatagc ttaagcccag gaggttgagg ctgcagtgat
     2701 ccaagatcat gctgctatac tccagccttg gctacagagc aagatcctgt ctcaaaaagg
     2761 aagttcatgt catttttatg taacaatcca acatttgact agagca
//
