LOCUS       NM_018480               1015 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 126B (TMEM126B), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_018480
VERSION     NM_018480.7
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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 1015)
  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 DA201774.1, AK298189.1,
            BC012065.1 and DB530931.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 3, 2019 this sequence version replaced NM_018480.6.
            
            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 (1) encodes the longest isoform
            (a).
            
            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 :: BG505320.1, BP263021.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358867.11/ ENSP00000351737.7
            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
            1-2                 DA201774.1         10-11
            3-208               AK298189.1         1-206
            209-218             BC012065.1         345-354
            219-894             AK298189.1         217-892
            895-1015            DB530931.1         294-414
FEATURES             Location/Qualifiers
     source          1..1015
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..1015
                     /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..96
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     CDS             16..708
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="isoform a is encoded by transcript variant 1;
                     complex I assembly factor TMEM126B, mitochondrial"
                     /codon_start=1
                     /product="complex I assembly factor TMEM126B,
                     mitochondrial isoform a"
                     /protein_id="NP_060950.3"
                     /db_xref="CCDS:CCDS8267.2"
                     /db_xref="GeneID:55863"
                     /db_xref="HGNC:HGNC:30883"
                     /db_xref="MIM:615533"
                     /translation="MVVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLE
                     DAKLRRPMVIEIIEKNFDYLRKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHD
                     ALKTYASLATLPFLSTVVTDKLFVIDALYSDNISKENCVFRSSLIGIVCGVFYPSSLA
                     FTKNGRLATKYHTVPLPPKGRVLIHWMTLCQTQMKLMAIPLVFQIMFGILNGLYHYAV
                     FEETLEKTIHEE"
     exon            97..218
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            219..412
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            413..524
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            525..1015
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      951..956
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     regulatory      968..973
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      978
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="major polyA site"
     regulatory      980..985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      986
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="major polyA site"
     polyA_site      1015
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
ORIGIN      
        1 acatgagcca ccaaaatggt ggtgttcggg tatgaggctg ggactaagcc aagggattca
       61 ggtgtggtgc cggtgggaac tgaggaagcg cccaaggttt tcaagatggc agcatctatg
      121 catggtcagc ccagtccttc tctagaagat gcaaaactca gaagaccaat ggtcatagaa
      181 atcatagaaa aaaattttga ctatcttaga aaagaaatga cacaaaatat atatcaaatg
      241 gcgacatttg gaacaacagc tggtttctct ggaatattct caaacttcct gttcagacgc
      301 tgcttcaagg ttaaacatga tgctttgaag acatatgcat cattggctac acttccattt
      361 ttgtctactg ttgttactga caagcttttt gtaattgatg ctttgtattc agataatata
      421 agcaaggaaa actgtgtttt cagaagctca ctgattggca tagtttgtgg tgttttctat
      481 cccagttctt tggcttttac taaaaatgga cgcctggcaa ccaagtatca taccgttcca
      541 ctgccaccaa aaggaagggt tttaatccat tggatgacgc tttgtcaaac acaaatgaaa
      601 ttaatggcga ttcctctagt ctttcagatt atgtttggaa tattaaatgg tctataccat
      661 tatgcagtat ttgaagagac acttgagaaa actatacatg aagagtaacc aaaaaaatga
      721 atggttgcta acttagcaaa atgaagtttc tataaagagg actcaggcat tgctgaaaga
      781 gttaaaagta actgtgaaca aataatttgt tctgtgcctt ttgcctggta tatagcaaat
      841 actcaaaaag tattcaataa ttcaatcaat aaatataagt ttcatcttac acgtaagata
      901 caggtcttat ctcctgatgg tgtgtccatt ttgcctggta tataacagat aataaatatc
      961 cagtgtcaat aaatgtaaca ataaaagttt catctttcct ctttgtatgt ggaaa
//
