LOCUS       NM_003776                744 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L40 (MRPL40),
            transcript variant 1, mRNA.
ACCESSION   NM_003776
VERSION     NM_003776.4
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 744)
  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 744)
  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 744)
  AUTHORS   Li,J., Ryan,S.K., Deboer,E., Cook,K., Fitzgerald,S., Lachman,H.M.,
            Wallace,D.C., Goldberg,E.M. and Anderson,S.A.
  TITLE     Mitochondrial deficits in human iPSC-derived neurons from patients
            with 22q11.2 deletion syndrome and schizophrenia
  JOURNAL   Transl Psychiatry 9 (1), 302 (2019)
   PUBMED   31740674
  REMARK    GeneRIF: Mitochondrial deficits in human iPSC-derived neurons from
            patients with 22q11.2 deletion syndrome and schizophrenia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 744)
  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 744)
  AUTHORS   Greber,B.J. and Ban,N.
  TITLE     Structure and Function of the Mitochondrial Ribosome
  JOURNAL   Annu Rev Biochem 85, 103-132 (2016)
   PUBMED   27023846
  REMARK    Review article
REFERENCE   6  (bases 1 to 744)
  AUTHORS   Zhang,Z. and Gerstein,M.
  TITLE     Identification and characterization of over 100 mitochondrial
            ribosomal protein pseudogenes in the human genome
  JOURNAL   Genomics 81 (5), 468-480 (2003)
   PUBMED   12706105
REFERENCE   7  (bases 1 to 744)
  AUTHORS   Kenmochi,N., Suzuki,T., Uechi,T., Magoori,M., Kuniba,M., Higa,S.,
            Watanabe,K. and Tanaka,T.
  TITLE     The human mitochondrial ribosomal protein genes: mapping of 54
            genes to the chromosomes and implications for human disorders
  JOURNAL   Genomics 77 (1-2), 65-70 (2001)
   PUBMED   11543634
REFERENCE   8  (bases 1 to 744)
  AUTHORS   Hildebrandt,T., Preiherr,J., Klostermann,S., Kaul,S., Zendman,A.J.,
            Van Muijen,G.N. and Weidle,U.H.
  TITLE     Identification of URIM, a novel gene up-regulated in metastasis
  JOURNAL   Anticancer Res 19 (1A), 525-530 (1999)
   PUBMED   10226592
REFERENCE   9  (bases 1 to 744)
  AUTHORS   Goldschmidt-Reisin,S., Kitakawa,M., Herfurth,E.,
            Wittmann-Liebold,B., Grohmann,L. and Graack,H.R.
  TITLE     Mammalian mitochondrial ribosomal proteins. N-terminal amino acid
            sequencing, characterization, and identification of corresponding
            gene sequences
  JOURNAL   J Biol Chem 273 (52), 34828-34836 (1998)
   PUBMED   9857009
REFERENCE   10 (bases 1 to 744)
  AUTHORS   Funke,B., Puech,A., Saint-Jore,B., Pandita,R., Skoultchi,A. and
            Morrow,B.
  TITLE     Isolation and characterization of a human gene containing a nuclear
            localization signal from the critical region for velo-cardio-facial
            syndrome on 22q11
  JOURNAL   Genomics 53 (2), 146-154 (1998)
   PUBMED   9790763
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC009707.1.
            
            On Aug 11, 2020 this sequence version replaced NM_003776.3.
            
            Summary: Mammalian mitochondrial ribosomal proteins are encoded by
            nuclear genes and help in protein synthesis within the
            mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a
            small 28S subunit and a large 39S subunit. They have an estimated
            75% protein to rRNA composition compared to prokaryotic ribosomes,
            where this ratio is reversed. Another difference between mammalian
            mitoribosomes and prokaryotic ribosomes is that the latter contain
            a 5S rRNA. Among different species, the proteins comprising the
            mitoribosome differ greatly in sequence, and sometimes in
            biochemical properties, which prevents easy recognition by sequence
            homology. This gene encodes a 39S subunit protein. Deletions in
            this gene may contribute to the etiology of velo-cardio-facial
            syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (1).
            
            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 :: AJ295637.1, BC009707.1 [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. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000333130.4/
                                                  ENSP00000333401.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-744               BC009707.1         33-776
FEATURES             Location/Qualifiers
     source          1..744
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..744
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /note="mitochondrial ribosomal protein L40"
                     /db_xref="GeneID:64976"
                     /db_xref="HGNC:HGNC:14491"
                     /db_xref="MIM:605089"
     exon            1..63
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..631
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /note="isoform 1 is encoded by transcript variant 1;
                     up-regulated in metastasis; 39S ribosomal protein L40,
                     mitochondrial; nuclear localization signal-containing
                     protein deleted in velocardiofacial syndrome;
                     mitochondrial large ribosomal subunit protein mL40"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL40 isoform 1"
                     /protein_id="NP_003767.2"
                     /db_xref="CCDS:CCDS13760.1"
                     /db_xref="GeneID:64976"
                     /db_xref="HGNC:HGNC:14491"
                     /db_xref="MIM:605089"
                     /translation="MTASVLRSISLALRPTSGLLGTWQTQLRETHQRASLLSFWELIP
                     MRSEPLRKKKKVDPKKDQEAKERLKRKIRKLEKATQELIPIEDFITPLKFLDKARERP
                     QVELTFEETERRALLLKKWSLYKQQERKMERDTIRAMLEAQQEALEELQLESPKLHAE
                     AIKRDPNLFPFEKEGPHYTPPIPNYQPPEGRYNDITKVYTQVEFKR"
     exon            64..147
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /inference="alignment:Splign:2.1.0"
     exon            148..306
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /inference="alignment:Splign:2.1.0"
     exon            307..744
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      722..727
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /note="hexamer: AATAAA"
     polyA_site      744
                     /gene="MRPL40"
                     /gene_synonym="L40mt; mL40; MRP-L22; MRP-L40; MRPL22;
                     NLVCF; URIM"
                     /note="major polyA site"
ORIGIN      
        1 gagggtagcc atgacggcct ccgtgctgcg aagtatctcg ctagccctgc gcccgactag
       61 cgggcttctg ggaacttggc agacgcagct tagagagact caccagcgag cgtcattgtt
      121 gtctttctgg gaactcattc ccatgagatc agaacctctt cgaaaaaaga agaaggtaga
      181 tcctaaaaaa gaccaagaag caaaggagcg cttgaaaagg aagatccgaa aactggaaaa
      241 ggctactcaa gagctaattc ctattgaaga ttttattacc cctctaaagt tcttggataa
      301 agcaagagag cggcctcagg tggagctcac ctttgaggag actgagagga gagctctgct
      361 tctgaagaag tggtccttgt acaagcagca agagcgtaag atggagaggg acaccatcag
      421 ggctatgcta gaagcccagc aggaagctct ggaggaactg caactggaat ccccgaagct
      481 ccatgctgag gccatcaagc gggatcctaa cctgttcccc tttgagaagg aagggccaca
      541 ttacacacca ccgatcccta actaccaacc ccctgaaggc aggtacaatg acatcaccaa
      601 ggtgtacaca caagtggagt ttaagagata gacttgcagg ctgctatcct taacatgctg
      661 cccctgagag taggaatgac cagggttcaa gtctgctttc cacagaatca ggcatgctgt
      721 taataaatac tggtttaatc aaaa
//
