LOCUS       NM_016020               2799 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens transcription factor B1, mitochondrial (TFB1M),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_016020 XR_110192
VERSION     NM_016020.4
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 2799)
  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   2  (bases 1 to 2799)
  AUTHORS   Liu,X., Shen,S., Wu,P., Li,F., Liu,X., Wang,C., Gong,Q., Wu,J.,
            Yao,X., Zhang,H. and Shi,Y.
  TITLE     Structural insights into dimethylation of 12S rRNA by TFB1M:
            indispensable role in translation of mitochondrial genes and
            mitochondrial function
  JOURNAL   Nucleic Acids Res 47 (14), 7648-7665 (2019)
   PUBMED   31251801
  REMARK    GeneRIF: The suppression of transcription factor B1, mitochondrial
            protein (hsTFB1M) protein level or the overexpression of inactive
            hsTFB1M mutants resulted in decreased ATP production.
REFERENCE   3  (bases 1 to 2799)
  AUTHORS   Sharoyko,V.V., Abels,M., Sun,J., Nicholas,L.M., Mollet,I.G.,
            Stamenkovic,J.A., Gohring,I., Malmgren,S., Storm,P., Fadista,J.,
            Spegel,P., Metodiev,M.D., Larsson,N.G., Eliasson,L., Wierup,N. and
            Mulder,H.
  TITLE     Loss of TFB1M results in mitochondrial dysfunction that leads to
            impaired insulin secretion and diabetes
  JOURNAL   Hum Mol Genet 23 (21), 5733-5749 (2014)
   PUBMED   24916378
  REMARK    GeneRIF: Loss of TFB1M results in mitochondrial dysfunction that
            leads to impaired insulin secretion and diabetes.
REFERENCE   4  (bases 1 to 2799)
  AUTHORS   Surovtseva,Y.V. and Shadel,G.S.
  TITLE     Transcription-independent role for human mitochondrial RNA
            polymerase in mitochondrial ribosome biogenesis
  JOURNAL   Nucleic Acids Res 41 (4), 2479-2488 (2013)
   PUBMED   23303773
REFERENCE   5  (bases 1 to 2799)
  AUTHORS   Castello,A., Fischer,B., Eichelbaum,K., Horos,R., Beckmann,B.M.,
            Strein,C., Davey,N.E., Humphreys,D.T., Preiss,T., Steinmetz,L.M.,
            Krijgsveld,J. and Hentze,M.W.
  TITLE     Insights into RNA biology from an atlas of mammalian mRNA-binding
            proteins
  JOURNAL   Cell 149 (6), 1393-1406 (2012)
   PUBMED   22658674
REFERENCE   6  (bases 1 to 2799)
  AUTHORS   McCulloch,V. and Shadel,G.S.
  TITLE     Human mitochondrial transcription factor B1 interacts with the
            C-terminal activation region of h-mtTFA and stimulates
            transcription independently of its RNA methyltransferase activity
  JOURNAL   Mol Cell Biol 23 (16), 5816-5824 (2003)
   PUBMED   12897151
  REMARK    GeneRIF: TFB1 interacts with the C-terminal activation region of
            h-mtTFA and stimulates transcription independently of its RNA
            methyltransferase activity
REFERENCE   7  (bases 1 to 2799)
  AUTHORS   Rantanen,A., Gaspari,M., Falkenberg,M., Gustafsson,C.M. and
            Larsson,N.G.
  TITLE     Characterization of the mouse genes for mitochondrial transcription
            factors B1 and B2
  JOURNAL   Mamm Genome 14 (1), 1-6 (2003)
   PUBMED   12532263
REFERENCE   8  (bases 1 to 2799)
  AUTHORS   Seidel-Rogol,B.L., McCulloch,V. and Shadel,G.S.
  TITLE     Human mitochondrial transcription factor B1 methylates ribosomal
            RNA at a conserved stem-loop
  JOURNAL   Nat Genet 33 (1), 23-24 (2003)
   PUBMED   12496758
  REMARK    GeneRIF: Human mitochondrial transcription factor B1 methylates
            ribosomal RNA at a conserved stem-loop
REFERENCE   9  (bases 1 to 2799)
  AUTHORS   Falkenberg,M., Gaspari,M., Rantanen,A., Trifunovic,A., Larsson,N.G.
            and Gustafsson,C.M.
  TITLE     Mitochondrial transcription factors B1 and B2 activate
            transcription of human mtDNA
  JOURNAL   Nat Genet 31 (3), 289-294 (2002)
   PUBMED   12068295
  REMARK    GeneRIF: This transcription factor activates transcription of human
            mitochondrial DNA.
REFERENCE   10 (bases 1 to 2799)
  AUTHORS   McCulloch,V., Seidel-Rogol,B.L. and Shadel,G.S.
  TITLE     A human mitochondrial transcription factor is related to RNA
            adenine methyltransferases and binds S-adenosylmethionine
  JOURNAL   Mol Cell Biol 22 (4), 1116-1125 (2002)
   PUBMED   11809803
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL139101.13 and BC017788.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016020.3.
            
            Summary: The protein encoded by this gene is a dimethyltransferase
            that methylates the conserved stem loop of mitochondrial 12S rRNA.
            The encoded protein also is part of the basal mitochondrial
            transcription complex and is necessary for mitochondrial gene
            expression. The methylation and transcriptional activities of this
            protein are independent of one another. Variations in this gene may
            influence the severity of aminoglycoside-induced deafness
            (AID).[provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR1803614.172407.1,
                                           SRR1803612.257084.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000367166.5/
                                                  ENSP00000356134.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL139101.13        58612-58612         c
            2-1182              BC017788.1         1-1181
            1183-2799           AL139101.13        262-1878            c
FEATURES             Location/Qualifiers
     source          1..2799
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q25.3"
     gene            1..2799
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /note="transcription factor B1, mitochondrial"
                     /db_xref="GeneID:51106"
                     /db_xref="HGNC:HGNC:17037"
                     /db_xref="MIM:607033"
     exon            1..189
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..1097
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /EC_number="2.1.1.-"
                     /note="isoform 1 is encoded by transcript variant 1;
                     homolog of yeast mitochondrial transcription factor B;
                     dimethyladenosine transferase 1, mitochondrial;
                     S-adenosylmethionine-6-N', N'-adenosyl(rRNA)
                     dimethyltransferase 1; mitochondrial 12S rRNA dimethylase
                     1; mitochondrial dimethyladenosine transferase 1; hTFB1M;
                     h-mtTFB1"
                     /codon_start=1
                     /product="dimethyladenosine transferase 1, mitochondrial
                     isoform 1"
                     /protein_id="NP_057104.2"
                     /db_xref="CCDS:CCDS5248.1"
                     /db_xref="GeneID:51106"
                     /db_xref="HGNC:HGNC:17037"
                     /db_xref="MIM:607033"
                     /translation="MAASGKLSTCRLPPLPTIREIIKLLRLQAAKQLSQNFLLDLRLT
                     DKIVRKAGNLTNAYVYEVGPGPGGITRSILNADVAELLVVEKDTRFIPGLQMLSDAAP
                     GKLRIVHGDVLTFKVEKAFSESLKRPWEDDPPNVHIIGNLPFSVSTPLIIKWLENISC
                     RDGPFVYGRTQMTLTFQKEVAERLAANTGSKQRSRLSVMAQYLCNVRHIFTIPGQAFV
                     PKPEVDVGVVHFTPLIQPKIEQPFKLVEKVVQNVFQFRRKYCHRGLRMLFPEAQRLES
                     TGRLLELADIDPTLRPRQLSISHFKSLCDVYRKMCDEDPQLFAYNFREELKRRKSKNE
                     EKEEDDAENYRL"
     exon            190..341
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     exon            342..450
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     exon            451..602
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     exon            603..722
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     exon            723..850
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     exon            851..2799
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1250..1255
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /note="hexamer: AATAAA"
     polyA_site      1270
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /note="major polyA site"
     regulatory      2775..2780
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
                     /note="hexamer: AATAAA"
     polyA_site      2799
                     /gene="TFB1M"
                     /gene_synonym="CGI-75; CGI75; mtTFB; mtTFB1"
ORIGIN      
        1 ggagcggcgg tgaaggtcct gggtgaggta gggttggatg gtgcttgccg cgtatcatgg
       61 ctgcctccgg aaaactcagc acttgccgtc tccctccgtt gcccacgatt cgagaaatca
      121 ttaagttgtt aagactgcaa gcagcgaagc agctatcaca gaatttcctc ctggacttga
      181 ggctgacaga taagattgta aggaaagctg gcaatctgac aaatgcttat gtttacgaag
      241 tgggccctgg gccaggggga atcacaagat ctattcttaa tgccgacgtc gctgaacttc
      301 tggtggttga aaaggacact cgatttattc ctggattaca gatgctttct gatgcagcac
      361 ctgggaaact gagaattgtt catggagatg tcttgacatt taaggtagaa aaggcttttt
      421 cagaaagtct taaaagaccc tgggaagatg atcctccaaa tgtacatatt attggaaatc
      481 tgccttttag tgtttcaact ccactgatta tcaagtggct tgaaaatatt tcctgtagag
      541 atggaccttt tgtttatggc agaactcaga tgactttgac ttttcaaaag gaagtggcag
      601 agagacttgc agccaataca ggaagcaaac agcgtagtcg cctctctgtt atggctcagt
      661 acctctgcaa tgttcgacac atctttacga ttccaggaca agcttttgtc cccaaaccag
      721 aggtggacgt gggcgtggtg cacttcactc ccttgataca gcccaagata gagcagccat
      781 tcaagctggt ggaaaaagtg gttcagaatg tatttcagtt ccgaaggaaa tactgccatc
      841 gagggctcag aatgttattc cctgaagcgc agcgcttgga aagcacgggc aggctgttag
      901 agttggcaga catagaccct actcttcggc cccgccagct ctccatctca cactttaaga
      961 gcctctgtga tgtatacaga aaaatgtgtg atgaagaccc acaactcttt gcatataatt
     1021 tcagagaaga actcaagcga agaaaaagca aaaatgaaga aaaagaagag gatgacgcag
     1081 agaattacag actctagctg ctgcctgggg gcgagcagcc taccagatgt cgatttgcac
     1141 tacgtggagc ttcttatata ggtactcttt tgtctttaca gaatgacgat acaaatgcca
     1201 atgaccagat gtgacttatt ttccttttac tatacagctt ggcagagaaa ataaatatca
     1261 tcaaataaga tacagtacaa gctttctttt aatatatact gtatagatag ttatgacatg
     1321 tttagtataa acagcatcta ttacaatcta tcttacaaaa atgaagtatc tgcacatttt
     1381 gcccctaaac cacattaaaa taacttaaat atgctttaaa taaagcaaaa actaacaaac
     1441 agctgaaaga aaatgcccag aggattttaa aaaatggccc tttgaaaact attaatcacg
     1501 acttccccag ccttactttt tccacataac ttaattatta gaatgtaatt ttaaggatcc
     1561 taaatcattt gatacctgct caaagtggat ataaactaag taatttacag attctgacca
     1621 gtttcatcta ggtttctgat ccacaataaa ttaaaataac ttaaatcttt acaaccattt
     1681 tgtgggaaaa tgtatactgc acaaaaccca ggaatgaaca gttttttttt tttttttttt
     1741 ttgcaatttc cactttacca ccagtttaaa agtaaaatga ggaatttaac ccatatctgg
     1801 attgaatcat actatgattt tccgtggctc tctgtttcat aaaaacactc ctcactgaca
     1861 acagatgtta aactctggac actgaattct cgctctagaa cagaatttag gtcgatggtg
     1921 gcattttcag actgactgtc aagggactgg tgacggatct gcgccttgag caaagttcct
     1981 ctgtccctct tggtgctgtt ggcttttcgt ttaatggggc agaagtgccc ccggaccagt
     2041 ttgggctgct ctcctccttt ctgaccctca cccgactccg ggccaggctg ctgctcagcc
     2101 tcggggtgaa cgtctgggtc ctcggaaatc ctcagtctct ggaactgaat ttcgatgtct
     2161 ttagtagggc tgccctgctt cacagtctga cggtggtcat catcttcatc gctcaggatg
     2221 tcactctctt tgatgagatt gtcggcaaaa tctgccaagc cggggtgtgg gtatttcccg
     2281 ggagaagtgc tcttggagtc ctgcctgccc tcagccgtgg ggcagccgct gctctgggtg
     2341 ccgctgctca agctgccctc gtcagagtcc agcaaggttc ccttgccagt ctcaccggtc
     2401 cactcgttgc tggaggaatt cttcaggact tttaaagacc tggatgaagc tacagtgaga
     2461 aaaacacatt tcgctgtgat acagaaacag gttacacaat gtgtaatgtt tgcctcaaag
     2521 cttgtgtaag atttaacatt aagattttat tttatgatat gacttcagtt agcaactatc
     2581 ctggtaatta ggcaaaaatg tagctactga aaacatggac atttttgact taggtttaca
     2641 gttgtaagtt aggcaattca gcatttttag attaccagag ctcaattatg taaatagaac
     2701 tagacactag aaactactac atgggctaag attcttattt tgccaaggag taagttgaaa
     2761 agttaattgg taataataaa tctaggctcc tttctttca
//
