LOCUS       NM_182501               1587 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial transcription termination factor 4
            (MTERF4), transcript variant 1, mRNA; nuclear gene for
            mitochondrial product.
ACCESSION   NM_182501
VERSION     NM_182501.4
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 1587)
  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 1587)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1587)
  AUTHORS   Wang,X.L., Liu,Q., Chen,G.J., Li,M.L. and Ding,Y.H.
  TITLE     Overexpression of MTERF4 promotes the amyloidogenic processing of
            APP by inhibiting ADAM10
  JOURNAL   Biochem Biophys Res Commun 482 (4), 928-934 (2017)
   PUBMED   27894840
  REMARK    GeneRIF: The overexpression of MTERF4 induced a significant
            increase in the levels of APP protein and secreted Abeta 42 in
            HEK293-APPswe cells compared with control cells these results
            suggest that MTERF4 promotes the amyloidogenic processing of APP by
            inhibiting ADAM10 in HEK293-APPswe cells; therefore, MTERF4 may
            play an important role in the pathogenesis of Alzheimer's disease.
REFERENCE   4  (bases 1 to 1587)
  AUTHORS   Yakubovskaya,E., Guja,K.E., Mejia,E., Castano,S., Hambardjieva,E.,
            Choi,W.S. and Garcia-Diaz,M.
  TITLE     Structure of the essential MTERF4:NSUN4 protein complex reveals how
            an MTERF protein collaborates to facilitate rRNA modification
  JOURNAL   Structure 20 (11), 1940-1947 (2012)
   PUBMED   23022348
REFERENCE   5  (bases 1 to 1587)
  AUTHORS   Spahr,H., Habermann,B., Gustafsson,C.M., Larsson,N.G. and
            Hallberg,B.M.
  TITLE     Structure of the human MTERF4-NSUN4 protein complex that regulates
            mitochondrial ribosome biogenesis
  JOURNAL   Proc Natl Acad Sci U S A 109 (38), 15253-15258 (2012)
   PUBMED   22949673
  REMARK    GeneRIF: analysis of the 3D crystal structure of the human
            MTERF4-NSUN4 complex
REFERENCE   6  (bases 1 to 1587)
  AUTHORS   Camara,Y., Asin-Cayuela,J., Park,C.B., Metodiev,M.D., Shi,Y.,
            Ruzzenente,B., Kukat,C., Habermann,B., Wibom,R., Hultenby,K.,
            Franz,T., Erdjument-Bromage,H., Tempst,P., Hallberg,B.M.,
            Gustafsson,C.M. and Larsson,N.G.
  TITLE     MTERF4 regulates translation by targeting the methyltransferase
            NSUN4 to the mammalian mitochondrial ribosome
  JOURNAL   Cell Metab 13 (5), 527-539 (2011)
   PUBMED   21531335
REFERENCE   7  (bases 1 to 1587)
  AUTHORS   Linder,T., Park,C.B., Asin-Cayuela,J., Pellegrini,M., Larsson,N.G.,
            Falkenberg,M., Samuelsson,T. and Gustafsson,C.M.
  TITLE     A family of putative transcription termination factors shared
            amongst metazoans and plants
  JOURNAL   Curr Genet 48 (4), 265-269 (2005)
   PUBMED   16193327
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA496994.1, BC053533.1, AA907534.1 and BM454834.1.
            
            On Nov 23, 2018 this sequence version replaced NM_182501.3.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.114955.1,
                                           SRR1660807.125374.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2467146
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000391980.7/
                                                  ENSP00000375840.2
            RefSeq Select criteria             :: based on conservation,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DA496994.1         46-47
            3-932               BC053533.1         1-930
            933-1250            AA907534.1         39-356              c
            1251-1587           BM454834.1         1-337
FEATURES             Location/Qualifiers
     source          1..1587
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q37.3"
     gene            1..1587
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /note="mitochondrial transcription termination factor 4"
                     /db_xref="GeneID:130916"
                     /db_xref="HGNC:HGNC:28785"
                     /db_xref="MIM:615393"
     exon            1..35
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1160
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     transcription termination factor 4, mitochondrial; MTERF
                     domain-containing protein 2"
                     /codon_start=1
                     /product="transcription termination factor 4,
                     mitochondrial isoform 1"
                     /protein_id="NP_872307.2"
                     /db_xref="CCDS:CCDS2544.1"
                     /db_xref="GeneID:130916"
                     /db_xref="HGNC:HGNC:28785"
                     /db_xref="MIM:615393"
                     /translation="MAAFGRQVLDWHRLIPLTWACMARQTPHLGEQRRTTASLLRKLT
                     TASNGGVIEELSCVRSNNYVQEPECRRNLVQCLLEKQGTPVVQGSLELERVMSSLLDM
                     GFSNAHINELLSVRRGASLQQLLDIISEFILLGLNPEPVCVVLKKSPQLLKLPIMQMR
                     KRSSYLQKLGLGEGKLKRVLYCCPEIFTMRQQDINDTVRLLKEKCLFTVQQVTKILHS
                     CPSVLREDLGQLEYKFQYAYFRMGIKHPDIVKSEYLQYSLTKIKQRHIYLERLGRYQT
                     PDKKGQTQIPNPLLKDILRVSEAEFLARTACTSVEEFQVFKKLLAREEEESESSTSDD
                     KRASLDEDEDDDDEEDNDEDDNDEDDDDEDDDEAEDNDEDEDDDEEE"
     exon            36..534
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /inference="alignment:Splign:2.1.0"
     exon            535..719
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /inference="alignment:Splign:2.1.0"
     exon            720..1587
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1567..1572
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /note="hexamer: AATAAA"
     polyA_site      1587
                     /gene="MTERF4"
                     /gene_synonym="MTERFD2"
                     /note="major polyA site"
ORIGIN      
        1 atcttctccg cgctatggct gcgttcggcc gtcaggtcct tgattggcac cgcctgatcc
       61 ccctcacctg ggcctgtatg gctaggcaga ctcctcatct tggagaacag agaaggacga
      121 cagcttcttt gttgcgcaaa ctgactacag cctccaatgg aggggtcatt gaggagttat
      181 cttgtgttag atccaataac tatgtgcagg aaccagagtg caggaggaat cttgttcagt
      241 gcctccttga gaagcagggg actcctgtgg tacaagggtc cttggagcta gagagggtca
      301 tgagttccct cctggacatg ggtttcagca atgcccatat taatgaattg ctcagtgtac
      361 ggcgaggtgc cagtcttcaa cagttgctgg acatcatttc agaatttatt ctcttgggtc
      421 tgaatccaga gcctgtgtgt gtggtcttga agaaaagtcc ccagttattg aaactgccta
      481 ttatgcaaat gaggaagcgc tccagttacc tgcaaaagct tgggcttgga gaagggaaat
      541 taaagagggt gctttactgt tgccctgaaa ttttcaccat gcgccagcag gacattaacg
      601 acactgtcag gcttctcaag gagaagtgcc ttttcacggt acagcaagtc accaagattt
      661 tgcacagttg cccctctgtt cttcgagagg acctgggtca actggaatac aagtttcagt
      721 atgcatactt caggatggga attaagcatc cagacattgt aaagagtgag tacttgcagt
      781 attcactaac caagattaag cagagacaca tttacctgga gcgcctggga cggtaccaaa
      841 cccctgataa gaaggggcag acacagatcc ctaacccatt gctcaaggac attctcagag
      901 tttcagaagc tgagtttttg gccaggacag cctgtacttc tgttgaggag tttcaagttt
      961 ttaagaagct cctggctcgg gaggaggagg agtctgagag cagcacatct gatgacaaaa
     1021 gggcaagtct ggatgaggat gaggatgacg atgatgagga ggacaatgat gaggatgaca
     1081 atgatgagga tgacgatgat gaggacgacg acgaggcgga ggacaatgat gaggatgagg
     1141 acgacgacga ggaggaatag ctgtgatgga aggactagag cgaaagggcc cagagatatc
     1201 aaggaagctt ttcattctct taaagctttt gggtccttta cttgaatctt ctcaagttat
     1261 tttttattct aaaactggtc tcttgatgaa aaaaattata agtcacctga gaggcagaca
     1321 gatcaaacca aacaggaaac aggaaatgca tgtttgatct gttgtcacgt gtctgtgggg
     1381 agggccctgt cccatcctga ataagatact tatgttgagc tattcacatc aaggggactc
     1441 aatatatcaa caattggttt tatttttttc tcttttgaat atgttggtga taattccgtg
     1501 acagttggaa gatggggttc attcttccgg ttcaggaatc actatgtatt tccttcttgt
     1561 gataaaaata aaattacgag aaggcaa
//
