LOCUS       NM_019051               3336 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), mRNA.
ACCESSION   NM_019051
VERSION     NM_019051.3
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 3336)
  AUTHORS   Bakhshalizadeh,S., Hock,D.H., Siddall,N.A., Kline,B.L.,
            Sreenivasan,R., Bell,K.M., Casagranda,F., Kamalanathan,S.,
            Sahoo,J., Narayanan,N., Naik,D., Suryadevara,V., Compton,A.G.,
            Amarasekera,S.S.C., Kapoor,R., Jaillard,S., Simpson,A.,
            Robevska,G., van den Bergen,J., Pachernegg,S., Ayers,K.L.,
            Thorburn,D.R., Stroud,D.A., Hime,G.R., Sinclair,A.H. and
            Tucker,E.J.
  TITLE     Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes
            autosomal recessive syndromic premature ovarian insufficiency
  JOURNAL   Hum Genet 142 (7), 879-907 (2023)
   PUBMED   37148394
  REMARK    GeneRIF: Deficiency of the mitochondrial ribosomal subunit, MRPL50,
            causes autosomal recessive syndromic premature ovarian
            insufficiency.
REFERENCE   2  (bases 1 to 3336)
  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 3336)
  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 3336)
  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 3336)
  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 3336)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3336)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   8  (bases 1 to 3336)
  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   9  (bases 1 to 3336)
  AUTHORS   Koc,E.C., Burkhart,W., Blackburn,K., Moyer,M.B., Schlatzer,D.M.,
            Moseley,A. and Spremulli,L.L.
  TITLE     The large subunit of the mammalian mitochondrial ribosome. Analysis
            of the complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (47), 43958-43969 (2001)
   PUBMED   11551941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN388719.1, AK000500.1,
            BC032008.1 and AL353621.19.
            
            On Nov 22, 2018 this sequence version replaced NM_019051.2.
            
            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 putative 39S subunit protein and
            belongs to the L47P ribosomal protein family. Pseudogenes
            corresponding to this gene are found on chromosomes 2p, 2q, 5p, and
            10q. [provided by RefSeq, Jul 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR11853567.30601.1,
                                           SRR11853566.28103.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2145245
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000374865.5/
                                                  ENSP00000363999.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 CN388719.1         30-33
            5-986               AK000500.1         1-982
            987-999             BC032008.1         968-980
            1000-1002           AK000500.1         996-998
            1003-3336           AL353621.19        11342-13675         c
FEATURES             Location/Qualifiers
     source          1..3336
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q31.1"
     gene            1..3336
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /note="mitochondrial ribosomal protein L50"
                     /db_xref="GeneID:54534"
                     /db_xref="HGNC:HGNC:16654"
                     /db_xref="MIM:611854"
     exon            1..118
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..503
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /note="mitochondrial 39S ribosomal protein L50; 39S
                     ribosomal protein L50, mitochondrial; L50mt; mitochondrial
                     large ribosomal subunit protein mL50"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL50"
                     /protein_id="NP_061924.1"
                     /db_xref="CCDS:CCDS6753.1"
                     /db_xref="GeneID:54534"
                     /db_xref="HGNC:HGNC:16654"
                     /db_xref="MIM:611854"
                     /translation="MAARSVSGITRRVFMWTVSGTPCREFWSRFRKEKEPVVVETVEE
                     KKEPILVCPPLRSRAYTPPEDLQSRLESYVKEVFGSSLPSNWQDISLEDSRLKFNLLA
                     HLADDLGHVVPNSRLHQMCRVRDVLDFYNVPIQDRSKFDELSASNLPPNLKITWSY"
     exon            119..3336
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /inference="alignment:Splign:2.1.0"
     regulatory      980..985
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /note="hexamer: ATTAAA"
     polyA_site      1004
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /note="major polyA site"
     regulatory      3236..3241
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /note="hexamer: AATAAA"
     polyA_site      3259
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
     regulatory      3316..3321
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
                     /note="hexamer: AATAAA"
     polyA_site      3336
                     /gene="MRPL50"
                     /gene_synonym="mL50; MRP-L50"
ORIGIN      
        1 gctcaggccc gtggatctca tcgaagatgg cggcgcgatc tgtgtcgggc attaccagaa
       61 gagtcttcat gtggacagtc tcagggacac catgtagaga attttggtct cgattcagaa
      121 aagagaaaga gccagtggtt gttgagacag tagaagagaa aaaggaacct atcctagtgt
      181 gtccaccttt acgaagccga gcatacacac cacctgaaga tctccagagt cgtttggaat
      241 cttacgttaa agaagttttt ggttcatctc ttcctagtaa ttggcaagac atctccctgg
      301 aagatagtcg tctaaagttc aatcttctgg ctcatttagc tgatgacttg ggtcatgtag
      361 tccctaactc cagactccac cagatgtgca gggttagaga tgttcttgat ttctataatg
      421 tccctattca agatagatct aaatttgatg aactcagtgc cagtaatctg ccccccaatt
      481 tgaaaatcac ttggagttac taagcaattc ggaagagaaa cacattgaaa tcactgtctt
      541 tccctgagca agggggctgc tcattagatc ttttgatact ttaccatgtg aaatactacc
      601 agaactgttc tctaaaccca ctttttctgt agaggaatgt atcatctttt tttttctcat
      661 attacaaatg gacaaataac ggactttcta ttttcatatt tgctgaaacc attttttaaa
      721 tgaaattagg tcattattta tgaaaagttt tgagagggca ctgtcaactt gggtttaaga
      781 caggaggaca ttgcaagttc acacctttca taagcataaa gtagttgcaa gaaagtattt
      841 tcatcctgtt aggattcata tctaagatag agttatgcat tgcacataca caaataaact
      901 tttattagat agatacctat aaaagaaaca taaaagtatg ttgtgtatta ctgacagttc
      961 tagattaatt tcttttagaa ttaaagtaga tttgttaaag tgtattgtgt gttgtaaatt
     1021 ttttaagtga aatttgcttg cgctctgcct tgccatttct ttccagtaag tataattttg
     1081 aaaaaattag aatatatgcc aaatattgag tgctgtgact cttcctcata agagatgtgc
     1141 cagattctat gtctaattgc atattctctt cagaggagat gatgcttatt ttaaaccttt
     1201 ttctctataa cttttaaaaa gtggtgctga gtattcacta gagtggcaag tctttgtgct
     1261 ttaatgcact caatttgtgg aaattactta aatagcaggt tatcagatgg ttctgaatga
     1321 caaaggtgtt aaatttggga tttttttttc aagctttaga tatggctgga gagtaatgag
     1381 acagaaggaa tgtcttatat tgttctgact gctgacaatt cctaaagaaa agtgatagaa
     1441 gggtttttaa caaaataagt tgcatttatt ctctttccca gggttactcc tttgaagagg
     1501 gcaaaattca gttgggaata taaattctgg aatcttcatg aagaaaatta gttaacagta
     1561 tagacatgcc ctacaaatat catccacagg cacttcattc aagaacttca ggtgtcagag
     1621 tgcctggagc tctggagctt agacattaga gttgattcct tggggattgg ttccaggaca
     1681 cctacttgga taccaaagtc cacagatgcc caagcccctt ttataaaatg atgtagtatt
     1741 tgcatattat gtatgcacat cctcccatat actttaaatc atctttagat tacttatact
     1801 gaatagaatg taaatagtat ttacaattgt gaatacaatg tatttagtta tgtaaatatg
     1861 taaattttaa agttatgtaa atatgtagct atgtaaatag ctataaaata atatttacaa
     1921 ttgtgaatag tatgtaaata gttgtgaaca taactattgt gaataatatg ttatatgtta
     1981 tagttgtgaa tgtaaatagt attcacaatt gtgaatacaa tgtaaatagc tttcacaatt
     2041 gtgaatacaa tgtaagtagc tatgtaaata gtgaatacaa tgtaaatagc tatgtaaata
     2101 gttgttatgc tgattaggga ataatgagaa ggaaaaaaag tatacatatt cagtacagat
     2161 gcagtcatct ttttttcccc tcgaacattt ttgatccaca attggttgaa tccacagatg
     2221 gggaacacac agtcttggta aatttaacca acaaggaggg taaacgcatc ccaacaggga
     2281 aggtaaactg cacatccatc agtacctcta gagggcatca ctggtttata gctcaataca
     2341 gtgactatat cagaataatg gcctttagtt ttcctgaaag attaaattag gcttgctgtt
     2401 gttgaatgag ataatcaaac atatgatgta attttaaagg gtttacatac agaaggcctg
     2461 ctgtatgtcc tgcttctgct gtgtaaaaga ttcagcatgg aatcattgga attttatgta
     2521 caggatttca ttatctcatt ttctatacaa tttttccttc tgatccagag acacggaaaa
     2581 acaaagggca agatggaaat aagggatgag aaggtctatg tggaaaaaca gttacaactg
     2641 gagtggtaac tgcaaaaacc aagcagcttc atgtgatcgt taggacagaa gaaatttctc
     2701 ctttgtagcc tagagcaata ttctcaaaat ttaatgcgca tgttaatcat ttggggatct
     2761 tttattcatt ttttcatgtg gggatctttt aaaaatgcaa attctgattt ggtaagtctg
     2821 gagtaggtcc tgagcttctg catgcttcaa aagctgatta tgttttgaga acatggatct
     2881 agatgctggt attgaggtgg gagacaagta ctgccacctg aaacaacagt cttggtaaat
     2941 ttagccgacg agggtaaaca catcctaaca gggaaggtaa actgtacgtc catcagtacc
     3001 actagagggc atcactggtt tatagttcaa tacagtgaat atatcagaat aatggccttt
     3061 agttttcctg aaagattaaa ttaggcttgc taacttgttt aatgagataa tcagacatat
     3121 gatgtaattt taaagggttt acatttttaa aaatttaatg attgctacat aaaaagggta
     3181 tcagttaact aattttactt agatggaact tctgtaagct tagtaggtat gcttaaataa
     3241 agcctgctaa taaaatagag attcagactc aatagaatgg ttttacatat gtaatatatg
     3301 ttttaaactg cataaaataa actcctccct cctttc
//
