LOCUS       NM_032273                759 bp    mRNA    linear   PRI 19-JAN-2025
DEFINITION  Homo sapiens transmembrane protein 126A (TMEM126A), transcript
            variant 1, mRNA.
ACCESSION   NM_032273
VERSION     NM_032273.4
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 759)
  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 759)
  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 759)
  AUTHORS   Formosa,L.E., Reljic,B., Sharpe,A.J., Hock,D.H., Muellner-Wong,L.,
            Stroud,D.A. and Ryan,M.T.
  TITLE     Optic atrophy-associated TMEM126A is an assembly factor for the
            ND4-module of mitochondrial complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (17) (2021)
   PUBMED   33879611
  REMARK    GeneRIF: Optic atrophy-associated TMEM126A is an assembly factor
            for the ND4-module of mitochondrial complex I.
REFERENCE   4  (bases 1 to 759)
  AUTHORS   D'Angelo,L., Astro,E., De Luise,M., Kurelac,I., Umesh-Ganesh,N.,
            Ding,S., Fearnley,I.M., Gasparre,G., Zeviani,M., Porcelli,A.M.,
            Fernandez-Vizarra,E. and Iommarini,L.
  TITLE     NDUFS3 depletion permits complex I maturation and reveals
            TMEM126A/OPA7 as an assembly factor binding the ND4-module
            intermediate
  JOURNAL   Cell Rep 35 (3), 109002 (2021)
   PUBMED   33882309
  REMARK    GeneRIF: NDUFS3 depletion permits complex I maturation and reveals
            TMEM126A/OPA7 as an assembly factor binding the ND4-module
            intermediate.
REFERENCE   5  (bases 1 to 759)
  AUTHORS   Kloth,K., Synofzik,M., Kernstock,C., Schimpf-Linzenbold,S.,
            Schuettauf,F., Neu,A., Wissinger,B. and Weisschuh,N.
  TITLE     Novel likely pathogenic variants in TMEM126A identified in
            non-syndromic autosomal recessive optic atrophy: two case reports
  JOURNAL   BMC Med Genet 20 (1), 62 (2019)
   PUBMED   30961538
  REMARK    GeneRIF: Novel likely pathogenic variants in TMEM126A identified in
            non-syndromic autosomal recessive optic atrophy: two case reports
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 759)
  AUTHORS   Hanein,S., Garcia,M., Fares-Taie,L., Serre,V., De Keyzer,Y.,
            Delaveau,T., Perrault,I., Delphin,N., Gerber,S., Schmitt,A.,
            Masse,J.M., Munnich,A., Kaplan,J., Devaux,F. and Rozet,J.M.
  TITLE     TMEM126A is a mitochondrial located mRNA (MLR) protein of the
            mitochondrial inner membrane
  JOURNAL   Biochim Biophys Acta 1830 (6), 3719-3733 (2013)
   PUBMED   23500070
  REMARK    GeneRIF: TMEM126A is a mitochondrial located mRNA (MLR) that may be
            translated in the mitochondrial surface and the protein is
            subsequently imported to the inner membrane
REFERENCE   7  (bases 1 to 759)
  AUTHORS   Desir,J., Coppieters,F., Van Regemorter,N., De Baere,E.,
            Abramowicz,M. and Cordonnier,M.
  TITLE     TMEM126A mutation in a Moroccan family with autosomal recessive
            optic atrophy
  JOURNAL   Mol Vis 18, 1849-1857 (2012)
   PUBMED   22815638
  REMARK    GeneRIF: The p.Arg55X mutation in TMEM126A, homozygous in all
            affected siblings and heterozygous in both unaffected parents, has
            been found in a Moroccan family with autosomal recessive optic
            atrophy.
REFERENCE   8  (bases 1 to 759)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 759)
  AUTHORS   Meyer,E., Michaelides,M., Tee,L.J., Robson,A.G., Rahman,F.,
            Pasha,S., Luxon,L.M., Moore,A.T. and Maher,E.R.
  TITLE     Nonsense mutation in TMEM126A causing autosomal recessive optic
            atrophy and auditory neuropathy
  JOURNAL   Mol Vis 16, 650-664 (2010)
   PUBMED   20405026
  REMARK    GeneRIF: The first detailed phenotyping of patients with autosomal
            recessive TMEM126A-associated optic atrophy and auditory
            neuropathy, is described.
            Publication Status: Online-Only
REFERENCE   10 (bases 1 to 759)
  AUTHORS   Hanein,S., Perrault,I., Roche,O., Gerber,S., Khadom,N., Rio,M.,
            Boddaert,N., Jean-Pierre,M., Brahimi,N., Serre,V., Chretien,D.,
            Delphin,N., Fares-Taie,L., Lachheb,S., Rotig,A., Meire,F.,
            Munnich,A., Dufier,J.L., Kaplan,J. and Rozet,J.M.
  TITLE     TMEM126A, encoding a mitochondrial protein, is mutated in
            autosomal-recessive nonsyndromic optic atrophy
  JOURNAL   Am J Hum Genet 84 (4), 493-498 (2009)
   PUBMED   19327736
  REMARK    GeneRIF: TMEM126A encodes a transmembrane mitochondrial protein of
            unknown function, supporting the view that mitochondrial
            dysfunction may be a hallmark of inherited optic neuropathies
            including isolated autosomal-recessive forms.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB454483.1, AK312081.1 and
            AP000642.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032273.3.
            
            Summary: The protein encoded by this gene is a mitochondrial
            membrane protein of unknown function. Defects in this gene are a
            cause of optic atrophy type 7 (OPA7). Two transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR5189652.263400.1,
                                           SRR5189655.31656.1 [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. :: PMID: 19327736; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000304511.7/
                                                  ENSP00000306887.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DB454483.1         49-69
            22-718              AK312081.1         2-698
            719-759             AP000642.5         35221-35261
FEATURES             Location/Qualifiers
     source          1..759
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..759
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /note="transmembrane protein 126A"
                     /db_xref="GeneID:84233"
                     /db_xref="HGNC:HGNC:25382"
                     /db_xref="MIM:612988"
     exon            1..123
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /inference="alignment:Splign:2.1.0"
     exon            124..216
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /inference="alignment:Splign:2.1.0"
     CDS             131..718
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /note="isoform 1 is encoded by transcript variant 1; optic
                     atrophy 7"
                     /codon_start=1
                     /product="transmembrane protein 126A isoform 1"
                     /protein_id="NP_115649.1"
                     /db_xref="CCDS:CCDS8268.1"
                     /db_xref="GeneID:84233"
                     /db_xref="HGNC:HGNC:25382"
                     /db_xref="MIM:612988"
                     /translation="MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAA
                     LCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCT
                     ITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKML
                     FPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH"
     exon            217..410
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /inference="alignment:Splign:2.1.0"
     exon            411..525
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /inference="alignment:Splign:2.1.0"
     exon            526..759
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      742..747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /note="hexamer: AATAAA"
     polyA_site      759
                     /gene="TMEM126A"
                     /gene_synonym="OPA7"
                     /note="major polyA site"
ORIGIN      
        1 acgccgcgtc acgagtcagc caaagatggc tgcgcccagg taatttgagc aaaggccaca
       61 gtgaactccg gcgtggctga ggaaggagga ggcacccaca ggctgctggg aggagagcat
      121 aaggctcaaa atggaaaatc ataaatccaa taataaggaa aacataacaa ttgttgatat
      181 atccagaaaa attaaccagc ttccagaagc agaaaggaat ctacttgaaa atggatcggt
      241 ttatgttgga ttaaatgctg ctctttgtgg cctcatagca aacagtcttt ttcgacgcat
      301 cttgaatgtg acaaaggctc gcatagctgc tggcttacca atggcaggga taccttttct
      361 tacaacagac ttaacttaca gatgttttgt aagttttcct ttgaatacag gtgatttgga
      421 ttgtgaaacc tgtaccataa cacggagtgg actgactggt cttgttattg gtggtctata
      481 ccctgttttc ttggctatac ctgtaaatgg tggtctagca gccaggtatc aatcagctct
      541 gttaccacac aaagggaaca tcttaagtta ctggattaga acttctaagc ctgtctttag
      601 aaagatgtta tttcctattt tgctccagac tatgttttca gcataccttg ggtctgaaca
      661 atataaacta cttataaagg cccttcagtt atctgaacct ggcaaagaaa ttcactgatt
      721 ttaaacaaat atgtaaacaa aaataaaatg gtaaaaaca
//
