LOCUS       NM_001350393             814 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 126B (TMEM126B), transcript
            variant 6, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001350393
VERSION     NM_001350393.1
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 814)
  AUTHORS   Zhou,X., Lou,X., Zhou,Y., Xie,Y., Han,X., Dong,Q., Ying,X.,
            Laurentinah,M.R., Zhang,L., Chen,Z., Li,D., Fang,H., Lyu,J.,
            Yang,Y. and Wang,Y.
  TITLE     Novel biallelic mutations in TMEM126B cause splicing defects and
            lead to Leigh-like syndrome with severe complex I deficiency
  JOURNAL   J Hum Genet 68 (4), 239-246 (2023)
   PUBMED   36482121
  REMARK    GeneRIF: Novel biallelic mutations in TMEM126B cause splicing
            defects and lead to Leigh-like syndrome with severe complex I
            deficiency.
REFERENCE   2  (bases 1 to 814)
  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 814)
  AUTHORS   Carroll,J., He,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     TMEM70 and TMEM242 help to assemble the rotor ring of human ATP
            synthase and interact with assembly factors for complex I
  JOURNAL   Proc Natl Acad Sci U S A 118 (13) (2021)
   PUBMED   33753518
REFERENCE   4  (bases 1 to 814)
  AUTHORS   Formosa,L.E., Muellner-Wong,L., Reljic,B., Sharpe,A.J.,
            Jackson,T.D., Beilharz,T.H., Stojanovski,D., Lazarou,M.,
            Stroud,D.A. and Ryan,M.T.
  TITLE     Dissecting the Roles of Mitochondrial Complex I Intermediate
            Assembly Complex Factors in the Biogenesis of Complex I
  JOURNAL   Cell Rep 31 (3), 107541 (2020)
   PUBMED   32320651
REFERENCE   5  (bases 1 to 814)
  AUTHORS   Giachin,G., Bouverot,R., Acajjaoui,S., Pantalone,S. and
            Soler-Lopez,M.
  TITLE     Dynamics of Human Mitochondrial Complex I Assembly: Implications
            for Neurodegenerative Diseases
  JOURNAL   Front Mol Biosci 3, 43 (2016)
   PUBMED   27597947
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 814)
  AUTHORS   Andrews,B., Carroll,J., Ding,S., Fearnley,I.M. and Walker,J.E.
  TITLE     Assembly factors for the membrane arm of human complex I
  JOURNAL   Proc Natl Acad Sci U S A 110 (47), 18934-18939 (2013)
   PUBMED   24191001
REFERENCE   7  (bases 1 to 814)
  AUTHORS   Heide,H., Bleier,L., Steger,M., Ackermann,J., Drose,S., Schwamb,B.,
            Zornig,M., Reichert,A.S., Koch,I., Wittig,I. and Brandt,U.
  TITLE     Complexome profiling identifies TMEM126B as a component of the
            mitochondrial complex I assembly complex
  JOURNAL   Cell Metab 16 (4), 538-549 (2012)
   PUBMED   22982022
REFERENCE   8  (bases 1 to 814)
  AUTHORS   Kiel,D.P., Demissie,S., Dupuis,J., Lunetta,K.L., Murabito,J.M. and
            Karasik,D.
  TITLE     Genome-wide association with bone mass and geometry in the
            Framingham Heart Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S14 (2007)
   PUBMED   17903296
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 814)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   10 (bases 1 to 814)
  AUTHORS   Hu,R.M., Han,Z.G., Song,H.D., Peng,Y.D., Huang,Q.H., Ren,S.X.,
            Gu,Y.J., Huang,C.H., Li,Y.B., Jiang,C.L., Fu,G., Zhang,Q.H.,
            Gu,B.W., Dai,M., Mao,Y.F., Gao,G.F., Rong,R., Ye,M., Zhou,J.,
            Xu,S.H., Gu,J., Shi,J.X., Jin,W.R., Zhang,C.K., Wu,T.M.,
            Huang,G.Y., Chen,Z., Chen,M.D. and Chen,J.L.
  TITLE     Gene expression profiling in the human
            hypothalamus-pituitary-adrenal axis and full-length cDNA cloning
  JOURNAL   Proc Natl Acad Sci U S A 97 (17), 9543-9548 (2000)
   PUBMED   10931946
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000642.5 and AA005078.1.
            
            Summary: This gene encodes a mitochondrial transmembrane protein
            which is a component of the mitochondrial complex I assembly
            complex. The encoded protein serves as an assembly factor that is
            required for formation of the membrane arm of the complex. It
            interacts with NADH dehydrogenase [ubiquinone] 1 alpha subcomplex
            assembly factor 13. Naturally occurring mutations in this gene are
            associated with isolated complex I deficiency. A pseudogene of this
            gene has been defined on chromosome 9. [provided by RefSeq, Apr
            2017].
            
            Transcript Variant: This variant (6) lacks an alternate exon in the
            5' coding region and uses an alternate splice site in the 3' coding
            region which results in the frameshift, compared to variant 1. The
            encoded isoform (e) is shorter and has a distinct internal segment,
            compared to isoform a.
            
            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 :: AA005078.1, SRR14243140.9798014.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-57                AP000642.5         7292-7348
            58-335              AA005078.1         1-278
            336-814             AP000642.5         14781-15259
FEATURES             Location/Qualifiers
     source          1..814
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..814
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="transmembrane protein 126B"
                     /db_xref="GeneID:55863"
                     /db_xref="HGNC:HGNC:30883"
                     /db_xref="MIM:615533"
     exon            1..116
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     CDS             36..503
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="isoform e is encoded by transcript variant 6;
                     complex I assembly factor TMEM126B, mitochondrial"
                     /codon_start=1
                     /product="complex I assembly factor TMEM126B,
                     mitochondrial isoform e"
                     /protein_id="NP_001337322.1"
                     /db_xref="GeneID:55863"
                     /db_xref="HGNC:HGNC:30883"
                     /db_xref="MIM:615533"
                     /translation="MVVFGYEAGTKPRDSGVVPVGTEEAPKDTKYISNGDIWNNSWFL
                     WNILKLPVQTLLQDNISKENCVFRSSLIGIVCGVFYPSSLAFTKNGRLATKYHTVPLP
                     PKGRVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAVFEETLEKTIHEE"
     exon            117..207
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            208..319
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            320..814
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      746..751
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     regulatory      763..768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      773
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="major polyA site"
     regulatory      775..780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      781
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="major polyA site"
     polyA_site      810
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
ORIGIN      
        1 tccccgccca ccggcaagtc acatgagcca ccaaaatggt ggtgttcggg tatgaggctg
       61 ggactaagcc aagggattca ggtgtggtgc cggtgggaac tgaggaagcg cccaaggaca
      121 caaaatatat atcaaatggc gacatttgga acaacagctg gtttctctgg aatattctca
      181 aacttcctgt tcagacgctg cttcaagata atataagcaa ggaaaactgt gttttcagaa
      241 gctcactgat tggcatagtt tgtggtgttt tctatcccag ttctttggct tttactaaaa
      301 atggacgcct ggcaaccaag tatcataccg ttccactgcc accaaaagga agggttttaa
      361 tccattggat gacgctttgt caaacacaaa tgaaattaat ggcgattcct ctagtctttc
      421 agattatgtt tggaatatta aatggtctat accattatgc agtatttgaa gagacacttg
      481 agaaaactat acatgaagag taaccaaaaa aatgaatggt tgctaactta gcaaaatgaa
      541 gtttctataa agaggactca ggcattgctg aaagagttaa aagtaactgt gaacaaataa
      601 tttgttctgt gccttttgcc tggtatatag caaatactca aaaagtattc aataattcaa
      661 tcaataaata taagtttcat cttacacgta agatacaggt cttatctcct gatggtgtgt
      721 ccattttgcc tggtatataa cagataataa atatccagtg tcaataaatg taacaataaa
      781 agtttcatct ttcctctttg tatgtggaaa tggg
//
