LOCUS       NM_138446               2905 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens mitochondrial assembly of ribosomal large subunit 1
            (MALSU1), mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_138446
VERSION     NM_138446.2
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 2905)
  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 2905)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2905)
  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   4  (bases 1 to 2905)
  AUTHORS   Brown,A., Rathore,S., Kimanius,D., Aibara,S., Bai,X.C., Rorbach,J.,
            Amunts,A. and Ramakrishnan,V.
  TITLE     Structures of the human mitochondrial ribosome in native states of
            assembly
  JOURNAL   Nat Struct Mol Biol 24 (10), 866-869 (2017)
   PUBMED   28892042
REFERENCE   5  (bases 1 to 2905)
  AUTHORS   Fung,S., Nishimura,T., Sasarman,F. and Shoubridge,E.A.
  TITLE     The conserved interaction of C7orf30 with MRPL14 promotes
            biogenesis of the mitochondrial large ribosomal subunit and
            mitochondrial translation
  JOURNAL   Mol Biol Cell 24 (3), 184-193 (2013)
   PUBMED   23171548
  REMARK    GeneRIF: C7orf30 promotes incorporation of MRPL14 into the
            mitochondrial large ribosomal subunit.
REFERENCE   6  (bases 1 to 2905)
  AUTHORS   Rorbach,J., Gammage,P.A. and Minczuk,M.
  TITLE     C7orf30 is necessary for biogenesis of the large subunit of the
            mitochondrial ribosome
  JOURNAL   Nucleic Acids Res 40 (9), 4097-4109 (2012)
   PUBMED   22238376
  REMARK    GeneRIF: C7orf30 is a novel human gene indispensable for
            mitochondrial translation, most probably via its contribution to
            the biogenesis of the large subunit of the mitochondrial ribosome.
            Erratum:[Nucleic Acids Res. 2016 Jan 29;44(2):992. doi:
            10.1093/nar/gkv1125.. PMID: 26487634]
REFERENCE   7  (bases 1 to 2905)
  AUTHORS   Wanschers,B.F., Szklarczyk,R., Pajak,A., van den Brand,M.A.,
            Gloerich,J., Rodenburg,R.J., Lightowlers,R.N., Nijtmans,L.G. and
            Huynen,M.A.
  TITLE     C7orf30 specifically associates with the large subunit of the
            mitochondrial ribosome and is involved in translation
  JOURNAL   Nucleic Acids Res 40 (9), 4040-4051 (2012)
   PUBMED   22238375
  REMARK    GeneRIF: C7orf30 is proposed to be involved in ribosomal large
            subunit function.
REFERENCE   8  (bases 1 to 2905)
  AUTHORS   Hauser,R., Pech,M., Kijek,J., Yamamoto,H., Titz,B., Naeve,F.,
            Tovchigrechko,A., Yamamoto,K., Szaflarski,W., Takeuchi,N.,
            Stellberger,T., Diefenbacher,M.E., Nierhaus,K.H. and Uetz,P.
  TITLE     RsfA (YbeB) proteins are conserved ribosomal silencing factors
  JOURNAL   PLoS Genet 8 (7), e1002815 (2012)
   PUBMED   22829778
REFERENCE   9  (bases 1 to 2905)
  AUTHORS   Tsang,H.T., Connell,J.W., Brown,S.E., Thompson,A., Reid,E. and
            Sanderson,C.M.
  TITLE     A systematic analysis of human CHMP protein interactions:
            additional MIT domain-containing proteins bind to multiple
            components of the human ESCRT III complex
  JOURNAL   Genomics 88 (3), 333-346 (2006)
   PUBMED   16730941
REFERENCE   10 (bases 1 to 2905)
  AUTHORS   Chevallet,M., Lescuyer,P., Diemer,H., van Dorsselaer,A.,
            Leize-Wagner,E. and Rabilloud,T.
  TITLE     Alterations of the mitochondrial proteome caused by the absence of
            mitochondrial DNA: A proteomic view
  JOURNAL   Electrophoresis 27 (8), 1574-1583 (2006)
   PUBMED   16548050
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC012331.1 and AC005082.3.
            
            On May 17, 2019 this sequence version replaced NM_138446.1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.93938.1, AK127742.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000466681.2/
                                                  ENSP00000419370.1
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-737               BC012331.1         19-755
            738-2905            AC005082.3         146089-148256
FEATURES             Location/Qualifiers
     source          1..2905
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7p15.3"
     gene            1..2905
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /note="mitochondrial assembly of ribosomal large subunit
                     1"
                     /db_xref="GeneID:115416"
                     /db_xref="HGNC:HGNC:21721"
                     /db_xref="MIM:614624"
     exon            1..270
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..719
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /codon_start=1
                     /product="mitochondrial assembly of ribosomal large
                     subunit protein 1"
                     /protein_id="NP_612455.1"
                     /db_xref="CCDS:CCDS5381.1"
                     /db_xref="GeneID:115416"
                     /db_xref="HGNC:HGNC:21721"
                     /db_xref="MIM:614624"
                     /translation="MGPGGRVARLLAPLMWRRAVSSVAGSAVGAEPGLRLLAVQRLPV
                     GAAFCRACQTPNFVRGLHSEPGLEERAEGTVNEGRPESDAADHTGPKFDIDMMVSLLR
                     QENARDICVIQVPPEMRYTDYFVIVSGTSTRHLHAMAFYVVKMYKHLKCKRDPHVKIE
                     GKDTDDWLCVDFGSMVIHLMLPETREIYELEKLWTLRSYDDQLAQIAPETVPEDFILG
                     IEDDTSSVTPVELKCE"
     exon            271..449
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /inference="alignment:Splign:2.1.0"
     exon            450..531
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /inference="alignment:Splign:2.1.0"
     exon            532..2905
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      715..720
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /note="hexamer: AATAAA"
     polyA_site      749
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /note="major polyA site"
     regulatory      1085..1090
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /note="hexamer: AATAAT"
     polyA_site      1100
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
     regulatory      1361..1366
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /note="hexamer: AATAAA"
     regulatory      1378..1383
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
                     /note="hexamer: AACAAG"
     polyA_site      1382
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
     polyA_site      1394
                     /gene="MALSU1"
                     /gene_synonym="C7orf30; mtRsfA"
ORIGIN      
        1 gcaaggctgc tgctatgggg ccgggcggcc gtgtggcgcg gctgctcgcc ccactaatgt
       61 ggcgcagggc ggtttcctcg gtggcggggt ccgcggttgg agccgagccc gggcttcggc
      121 tgctggccgt gcagcggctt cccgtaggag cagcgttctg ccgggcttgc cagaccccaa
      181 actttgtccg cggcctgcac agcgagcctg ggctggagga gcgggcggag gggacggtca
      241 acgagggacg cccagaatcg gacgcggcag atcatactgg tcccaagttt gacatcgata
      301 tgatggtttc acttctgagg caagaaaatg caagagacat ttgtgtgatc caggttcctc
      361 cagaaatgag atatacagat tactttgtga ttgttagtgg aacttctacc cgacacttac
      421 atgccatggc cttctacgtt gtgaaaatgt acaaacacct gaaatgtaaa cgtgaccctc
      481 atgttaagat agaagggaag gacactgatg actggctgtg cgtggatttt ggcagcatgg
      541 tgattcattt gatgcttcca gaaaccagag aaatctatga attagagaaa ttatggaccc
      601 tacgttctta tgatgaccag ttagctcaga tagcacctga gacagtacct gaagacttca
      661 ttcttggaat agaagatgat acttcatctg tgactccagt ggagttaaaa tgtgaataaa
      721 atattttatg cactgcgtta gtcatttcag atttggattg agtcacttat tggaaaatac
      781 agctcctaaa gtccgtctcc ttggttaggc tgctcttagg acaaggcttg tgtacctcat
      841 gggcactcct gctaactggc atgcagagac tgtcgataag tgagctatac ctgcaaccaa
      901 aaatcagtac attctaccca aaacttatga cacgctgcct ttatcctgga aatgtcatca
      961 gaatttcctg gagttagcac tggctcctgt gcttgacttc tctgctcaga tttttattaa
     1021 tttaatttag cttaaatgta aatcttaacc ctgtttgttt aatggaatgg caaaaatttt
     1081 aaaaaataat ataaaacata gcccactggt cttattttta tactttgagg tgataatatt
     1141 cttctaggag gacttctgta acccttccag aatactccag taacacaaga aagtaaacaa
     1201 agtgtttgtt aggaaaaact ctgaacgctc tagttcttag ttcatatgca agagtattat
     1261 caaggttcac attaagtacc atggctggac atggtataac agaaatctgc gtagagtttg
     1321 aaaaaaaatt cagaacattc ccattcaatt gaaaaccaaa aataaaacat actacacaac
     1381 aagctgcacc taaatgatga aaaaatttat tctgcgtcaa ggtatctgga aaatgaagct
     1441 gcatttgggg cacattatac atgaggaatg atccatatat ggtgagtaca aaactcaatt
     1501 atagaattat ttcttagcta gtaccagata ctccaaatta caaatgctta agtaaaagta
     1561 aaatatgatt tgccatacta aaaggctaga agtgaaatat gacagaattt aaaccagcag
     1621 atataaatgc agcacctatg tgtatatttt taaaaaatca aatattgggg aaaaaaatca
     1681 aatactgaga aaagctctgg ccttaaacac atcttacctg aaatccaacc agaaagccag
     1741 tccatgattt tagcaatttt aattcattgt atgaaaaaaa aatcatgaat gctaggagaa
     1801 tccagtgaca aaaagggcac ttttttggtt aaaactacaa aagaaacttg ttttcagaga
     1861 acattaagga aaacacttta aatcattttc aaaatgtcta attgatcttc agaaaaacat
     1921 ctagtctgta tagaaattca tcttgaaata agaatgaggc agtgattttt tttttaaagg
     1981 gttatatata tgtcctttag atcagtgtaa catgactgtg atcatcttac aaacaaaact
     2041 caaaaaatca attcagagag cagcgtggcc ttggagacca cccacaccca acacaattgt
     2101 acgtactggg ctttgctgtc aaggagtgag caaatgagtt cgttatcaaa ggtcatatgt
     2161 tttcacagtc attcaaatta tatcccaaaa acttttcttg tattctctat cttttgactt
     2221 ttttttcaaa gaactgattg cacagtatac agaaatcctg ttatacttta ctacttaagg
     2281 tggagtctaa tttttttttt ttaatttatc agtgcttaaa aatcttcaaa atagcttagt
     2341 gaggctcatg acagtgctgg ccccatggaa atgtagcctt ttgttgcgtt taaacactgt
     2401 cacaccatct atgactgtcc cattggtctg aagtgtagtg gcaaactaag catcctataa
     2461 gacaagctaa agcttgcttt ttgccagtca gttgaaagtc ttgcatctct tcactgatgc
     2521 actttcttta ggtattgata gtcagaagca caaagcattt attatgcatt caatcatgta
     2581 gctaaacaaa aaactgaagt ctcctgaagc catttaaacc agccgttcca aaatctcctg
     2641 cgaccacttt gttagtaccg tcaaaaactt tcccaactat aaatgaaaga ataaatggta
     2701 gtgctgctct ccagatacta ggcactgctc cgtatttttg aacatttgat ttaactaata
     2761 actgtgtcaa aagcctcaaa aaaccctgaa attaattttc cagctttact gtcaccagcc
     2821 agaagtaaaa atcttaattt gcctgttagc tgattgctgt taaattttaa atttattttt
     2881 taaaaaacgg ttggacttct atcat
//
