LOCUS       NM_001350395            1769 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 126B (TMEM126B), transcript
            variant 8, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001350395
VERSION     NM_001350395.2
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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 1769)
  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 BG170146.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001350395.1.
            
            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 (8) differs in the 5' and 3' UTRs,
            differs in the 5' and 3' coding regions, and initiates translation
            at an alternate start codon, compared to variant 1. The encoded
            isoform (g) is shorter and has distinct N- and C-termini, 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 :: SRR14243140.7785294.1, BG170146.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AP000642.5         7312-7322
            12-102              BG170146.1         1-91
            103-103             AP000642.5         7857-7857
            104-605             BG170146.1         92-593
            606-1769            AP000642.5         13061-14224
FEATURES             Location/Qualifiers
     source          1..1769
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..1769
                     /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"
     exon            97..227
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     CDS             207..569
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="isoform g is encoded by transcript variant 8;
                     complex I assembly factor TMEM126B, mitochondrial"
                     /codon_start=1
                     /product="complex I assembly factor TMEM126B,
                     mitochondrial isoform g"
                     /protein_id="NP_001337324.1"
                     /db_xref="GeneID:55863"
                     /db_xref="HGNC:HGNC:30883"
                     /db_xref="MIM:615533"
                     /translation="MLNKILKVFKMAASMHGQPSPSLEDAKLRRPMVIEIIEKNFDYL
                     RKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHDALKTYASLATLPFLSTVVTD
                     KLFVIDALYSGEFKFTNV"
     exon            228..349
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            350..1769
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      584..589
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AGTAAA"
     polyA_site      605
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="major polyA site"
     regulatory      1334..1339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      1356
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
     regulatory      1747..1752
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      1769
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
ORIGIN      
        1 acatgagcca ccaaaatggt ggtgttcggg tatgaggctg ggactaagcc aagggattca
       61 ggtgtggtgc cggtgggaac tgaggaagcg cccaagcttt tttgttctga actcccactg
      121 cgttgtggat tcctgaggat gggatgactg tatcttgatt acccggaggt ctggcatata
      181 ccacgtgctc cctaaattat gagcgaatgt tgaataaaat tctaaaggtt ttcaagatgg
      241 cagcatctat gcatggtcag cccagtcctt ctctagaaga tgcaaaactc agaagaccaa
      301 tggtcataga aatcatagaa aaaaattttg actatcttag aaaagaaatg acacaaaata
      361 tatatcaaat ggcgacattt ggaacaacag ctggtttctc tggaatattc tcaaacttcc
      421 tgttcagacg ctgcttcaag gttaaacatg atgctttgaa gacatatgca tcattggcta
      481 cacttccatt tttgtctact gttgttactg acaagctttt tgtaattgat gctttgtatt
      541 caggtgaatt taaattcact aatgtataac gtagttatgt ctaagtaaag ttacttatta
      601 acatatactg ttgctactgc taataataat tctttacatt tatatattgc tatacagttt
      661 acaaagtcca tataccttgt catatttaat ccctgcaaca atcctcctaa tcaggtaaac
      721 tgtatttttt tatttctgta gataagcaac ccaaactgag gcatgttcaa gtacgctaat
      781 aagcaacata ctgggaaaag aattggctgt ggcatacaac gcacatcatt tcagtatgct
      841 acctcctgcc acttaagttt tgtgacattc agtaaggcat ttcatctctg agcctccgtt
      901 gtcttatcta taagttagga ctaatagtac ttacctcaca ggattgttgt gagaattaaa
      961 agatactgta ggttaaatga ctaccacaat atctgtcata ttatgggctt ttaatgttat
     1021 ttcctgcccc tcaccttacc ttgagtttca caactagtaa ttgatagagc atctatccct
     1081 tgttcattct tcaggttcct gcttaagtat cttttcccca gggagacctc tgattgcctc
     1141 attgtacact aggtgtctgg atacattctc tatatagttt atcttcaaag tattgtgtac
     1201 actgataatt atctatttaa atatttatct cgtgtctttc atctctgtaa actggccaga
     1261 aggtcagaga tcaggtctct tttatgtacc accgtattcc tagctcctag cacgttcctg
     1321 atatatagta gataataaaa atgtattaac ctagaatcca ggtctggttt gctagtttag
     1381 tattgtcatt ataaaattgt ttctggctgg gcacggtggc tcatgcctat aatcccaaca
     1441 ctttgggagg ccaagacagg cagatcactt gaggtcagga gttcgagacc agcctggcca
     1501 acacagtctc tactaaaaat agaaaaacag ttgagcatgg tggtgcaagc ttataatccc
     1561 agctacttgg gaggctgagg catgagaatt gcttgaaccc tggaggcaga ggttgcagtg
     1621 agccgagatc gtgccactgt actctagcct gggcaacaga gtgagactcc gtctccaaaa
     1681 aataaaataa aattgcttct acaacaacca catacgttag aggtaattct ctatgtgata
     1741 aagtataata aaaacttttt aaaatgtgc
//
