LOCUS       NM_001350394            1638 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens transmembrane protein 126B (TMEM126B), transcript
            variant 7, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001350394
VERSION     NM_001350394.2
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 1638)
  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 1638)
  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 1638)
  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 1638)
  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 1638)
  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 1638)
  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 1638)
  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 1638)
  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 1638)
  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 1638)
  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.
            
            On Aug 14, 2020 this sequence version replaced NM_001350394.1.
            
            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 (7) differs in the 3' coding
            region and 3' UTR, compared to variant 1. The encoded isoform (f)
            has a shorter and distinct C-terminus, compared to isoform a.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR5189661.105493.1,
                                           SRR14038191.4427097.1 [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
            1-96                AP000642.5         7312-7407
            97-218              AP000642.5         10406-10527
            219-1638            AP000642.5         12805-14224
FEATURES             Location/Qualifiers
     source          1..1638
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q14.1"
     gene            1..1638
                     /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..438
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="isoform f is encoded by transcript variant 7;
                     complex I assembly factor TMEM126B, mitochondrial"
                     /codon_start=1
                     /product="complex I assembly factor TMEM126B,
                     mitochondrial isoform f"
                     /protein_id="NP_001337323.1"
                     /db_xref="GeneID:55863"
                     /db_xref="HGNC:HGNC:30883"
                     /db_xref="MIM:615533"
                     /translation="MVVFGYEAGTKPRDSGVVPVGTEEAPKVFKMAASMHGQPSPSLE
                     DAKLRRPMVIEIIEKNFDYLRKEMTQNIYQMATFGTTAGFSGIFSNFLFRRCFKVKHD
                     ALKTYASLATLPFLSTVVTDKLFVIDALYSGEFKFTNV"
     exon            97..218
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     exon            219..1638
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /inference="alignment:Splign:2.1.0"
     regulatory      453..458
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AGTAAA"
     polyA_site      474
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="major polyA site"
     regulatory      1203..1208
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      1225
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
     regulatory      1616..1621
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM126B"
                     /gene_synonym="HT007; MC1DN29"
                     /note="hexamer: AATAAA"
     polyA_site      1638
                     /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 aggtgaattt
      421 aaattcacta atgtataacg tagttatgtc taagtaaagt tacttattaa catatactgt
      481 tgctactgct aataataatt ctttacattt atatattgct atacagttta caaagtccat
      541 ataccttgtc atatttaatc cctgcaacaa tcctcctaat caggtaaact gtattttttt
      601 atttctgtag ataagcaacc caaactgagg catgttcaag tacgctaata agcaacatac
      661 tgggaaaaga attggctgtg gcatacaacg cacatcattt cagtatgcta cctcctgcca
      721 cttaagtttt gtgacattca gtaaggcatt tcatctctga gcctccgttg tcttatctat
      781 aagttaggac taatagtact tacctcacag gattgttgtg agaattaaaa gatactgtag
      841 gttaaatgac taccacaata tctgtcatat tatgggcttt taatgttatt tcctgcccct
      901 caccttacct tgagtttcac aactagtaat tgatagagca tctatccctt gttcattctt
      961 caggttcctg cttaagtatc ttttccccag ggagacctct gattgcctca ttgtacacta
     1021 ggtgtctgga tacattctct atatagttta tcttcaaagt attgtgtaca ctgataatta
     1081 tctatttaaa tatttatctc gtgtctttca tctctgtaaa ctggccagaa ggtcagagat
     1141 caggtctctt ttatgtacca ccgtattcct agctcctagc acgttcctga tatatagtag
     1201 ataataaaaa tgtattaacc tagaatccag gtctggtttg ctagtttagt attgtcatta
     1261 taaaattgtt tctggctggg cacggtggct catgcctata atcccaacac tttgggaggc
     1321 caagacaggc agatcacttg aggtcaggag ttcgagacca gcctggccaa cacagtctct
     1381 actaaaaata gaaaaacagt tgagcatggt ggtgcaagct tataatccca gctacttggg
     1441 aggctgaggc atgagaattg cttgaaccct ggaggcagag gttgcagtga gccgagatcg
     1501 tgccactgta ctctagcctg ggcaacagag tgagactccg tctccaaaaa ataaaataaa
     1561 attgcttcta caacaaccac atacgttaga ggtaattctc tatgtgataa agtataataa
     1621 aaacttttta aaatgtgc
//
