LOCUS       NM_017446               1074 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L39 (MRPL39),
            transcript variant 1, mRNA.
ACCESSION   NM_017446
VERSION     NM_017446.4
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 1074)
  AUTHORS   Amarasekera,S.S.C., Hock,D.H., Lake,N.J., Calvo,S.E.,
            Gronborg,S.W., Krzesinski,E.I., Amor,D.J., Fahey,M.C., Simons,C.,
            Wibrand,F., Mootha,V.K., Lek,M., Lunke,S., Stark,Z., Ostergaard,E.,
            Christodoulou,J., Thorburn,D.R., Stroud,D.A. and Compton,A.G.
  TITLE     Multi-omics identifies large mitoribosomal subunit instability
            caused by pathogenic MRPL39 variants as a cause of pediatric onset
            mitochondrial disease
  JOURNAL   Hum Mol Genet 32 (15), 2441-2454 (2023)
   PUBMED   37133451
  REMARK    GeneRIF: Multi-omics identifies large mitoribosomal subunit
            instability caused by pathogenic MRPL39 variants as a cause of
            pediatric onset mitochondrial disease.
REFERENCE   2  (bases 1 to 1074)
  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 1074)
  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   4  (bases 1 to 1074)
  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   5  (bases 1 to 1074)
  AUTHORS   Brown,A., Amunts,A., Bai,X.C., Sugimoto,Y., Edwards,P.C.,
            Murshudov,G., Scheres,S.H.W. and Ramakrishnan,V.
  TITLE     Structure of the large ribosomal subunit from human mitochondria
  JOURNAL   Science 346 (6210), 718-722 (2014)
   PUBMED   25278503
REFERENCE   6  (bases 1 to 1074)
  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 1074)
  AUTHORS   O'Brien,T.W.
  TITLE     Evolution of a protein-rich mitochondrial ribosome: implications
            for human genetic disease
  JOURNAL   Gene 286 (1), 73-79 (2002)
   PUBMED   11943462
REFERENCE   8  (bases 1 to 1074)
  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   9  (bases 1 to 1074)
  AUTHORS   Spirina,O., Bykhovskaya,Y., Kajava,A.V., O'Brien,T.W.,
            Nierlich,D.P., Mougey,E.B., Sylvester,J.E., Graack,H.R.,
            Wittmann-Liebold,B. and Fischel-Ghodsian,N.
  TITLE     Heart-specific splice-variant of a human mitochondrial ribosomal
            protein (mRNA processing; tissue specific splicing)
  JOURNAL   Gene 261 (2), 229-234 (2000)
   PUBMED   11167009
REFERENCE   10 (bases 1 to 1074)
  AUTHORS   O'Brien,T.W., Fiesler,S.E., Denslow,N.D., Thiede,B.,
            Wittmann-Liebold,B., Mougey,E.B., Sylvester,J.E. and Graack,H.R.
  TITLE     Mammalian mitochondrial ribosomal proteins (2). Amino acid
            sequencing, characterization, and identification of corresponding
            gene sequences
  JOURNAL   J Biol Chem 274 (51), 36043-36051 (1999)
   PUBMED   10593885
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP000223.1.
            
            On Aug 6, 2019 this sequence version replaced NM_017446.3.
            
            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. Two transcript
            variants encoding distinct isoforms have been described. A
            pseudogene corresponding to this gene is found on chromosome 5q.
            [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) encodes the predominant
            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 :: BC107719.1, AK225878.1 [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                 :: ENST00000352957.9/
                                                  ENSP00000284967.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                AP000223.1         43444-43522         c
            80-286              AP000223.1         42490-42696         c
            287-426             AP000223.1         39837-39976         c
            427-526             AP000223.1         37409-37508         c
            527-594             AP000223.1         35840-35907         c
            595-707             AP000223.1         33343-33455         c
            708-773             AP000223.1         29934-29999         c
            774-927             AP000223.1         28853-29006         c
            928-975             AP000223.1         24876-24923         c
            976-1074            AP000223.1         21697-21795         c
FEATURES             Location/Qualifiers
     source          1..1074
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q21.3"
     gene            1..1074
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /note="mitochondrial ribosomal protein L39"
                     /db_xref="GeneID:54148"
                     /db_xref="HGNC:HGNC:14027"
                     /db_xref="MIM:611845"
     exon            1..79
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     CDS             7..1023
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /note="isoform a is encoded by transcript variant 1; 39S
                     ribosomal protein L39, mitochondrial; 39S ribosomal
                     protein L5, mitochondrial; mitochondrial large ribosomal
                     subunit protein mL39"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL39 isoform a"
                     /protein_id="NP_059142.3"
                     /db_xref="CCDS:CCDS13573.1"
                     /db_xref="GeneID:54148"
                     /db_xref="HGNC:HGNC:14027"
                     /db_xref="MIM:611845"
                     /translation="MEALAMGSRALRLWLVAPGGGIKWRFIATSSASQLSPTELTEMR
                     NDLFNKEKARQLSLTPRTEKIEVKHVGKTDPGTVFVMNKNISTPYSCAMHLSEWYCRK
                     SILALVDGQPWDMYKPLTKSCEIKFLTFKDCDPGEVNKAYWRSCAMMMGCVIERAFKD
                     EYMVNLVRAPEVPVISGAFCYDVVLDSKLDEWMPTKENLRSFTKDAHALIYKDLPFET
                     LEVEAKVALEIFQHSKYKVDFIEEKASQNPERIVKLHRIGDFIDVSEGPLIPRTSICF
                     QYEVSAVHNLQPTQPSLIRRFQGVSLPVHLRAHFTIWDKLLERSRKMVTEDQSKATEE
                     CTST"
     exon            80..286
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            287..426
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            427..526
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            527..594
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            595..707
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            708..773
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            774..927
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            928..975
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     exon            976..1074
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1055..1060
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /note="hexamer: AATAAA"
     polyA_site      1074
                     /gene="MRPL39"
                     /gene_synonym="C21orf92; COXPD59; L39mt; L5mt; mL39;
                     MRP-L5; MRPL5; MSTP003; PRED22; PRED66; RPML5"
                     /note="major polyA site"
ORIGIN      
        1 gctgctatgg aggcgctggc catgggttcc cgggcgctgc ggctctggct ggtcgcaccc
       61 ggtggcggga tcaaatggag atttatagca acatcgtcag cttctcagct gtcaccgaca
      121 gaattgacag aaatgcggaa tgatctcttt aataaagaga aagccaggca gttatcatta
      181 actccccgaa ctgagaagat agaagttaag catgttggga aaactgaccc cggtactgtc
      241 ttcgtgatga ataaaaacat ttcaactccc tacagttgtg ccatgcattt aagcgagtgg
      301 tattgcagga agtccattct ggctctggtg gatggacagc cttgggacat gtataagcct
      361 ttaacaaagt cctgtgaaat taaatttctt actttcaaag attgtgatcc aggagaagtg
      421 aataaggcat attggcgttc ctgtgctatg atgatgggct gtgtgataga gagggcattc
      481 aaagatgaat atatggtcaa tttggtcaga gctccagaag ttcctgtaat ttctggtgcc
      541 ttctgttatg acgtagtttt ggatagcaaa cttgatgagt ggatgccaac aaaagagaac
      601 ttacgttcct tcacaaaaga tgctcatgct ttaatttata aagatcttcc atttgaaact
      661 ctggaagttg aagcaaaagt ggcattggaa atatttcaac acagcaagta caaagtagat
      721 ttcatagaag agaaggcatc tcagaaccct gagagaatag tcaagctaca cagaataggt
      781 gacttcattg atgtgagtga gggccctctt attccaagaa caagtatttg tttccagtat
      841 gaagtatcag cagttcacaa tcttcaaccc acccagccaa gtctcatacg aagattccag
      901 ggcgtgtctt tacctgttca cttaagagca cattttacaa tatgggataa gctattggaa
      961 agatctcgga aaatggtaac tgaagatcaa agtaaagcaa cagaggaatg tacatctacc
     1021 taataacttt ctaaaattta aatatgtata ataaaataaa tgttttaaat ataa
//
