LOCUS       NM_016055               1500 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L48 (MRPL48),
            transcript variant 1, mRNA.
ACCESSION   NM_016055
VERSION     NM_016055.6
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 1500)
  AUTHORS   Lin,Y.X., Pan,J.Y., Feng,W.D., Huang,T.C. and Li,C.Z.
  TITLE     MRPL48 is a novel prognostic and predictive biomarker of
            hepatocellular carcinoma
  JOURNAL   Eur J Med Res 28 (1), 589 (2023)
   PUBMED   38093387
  REMARK    GeneRIF: MRPL48 is a novel prognostic and predictive biomarker of
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1500)
  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 1500)
  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 1500)
  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 1500)
  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 1500)
  AUTHORS   Haque,M.E., Elmore,K.B., Tripathy,A., Koc,H., Koc,E.C. and
            Spremulli,L.L.
  TITLE     Properties of the C-terminal tail of human mitochondrial inner
            membrane protein Oxa1L and its interactions with mammalian
            mitochondrial ribosomes
  JOURNAL   J Biol Chem 285 (36), 28353-28362 (2010)
   PUBMED   20601428
REFERENCE   7  (bases 1 to 1500)
  AUTHORS   Fernandez-Ranvier,G.G., Weng,J., Yeh,R.F., Shibru,D.,
            Khafnashar,E., Chung,K.W., Hwang,J., Duh,Q.Y., Clark,O.H. and
            Kebebew,E.
  TITLE     Candidate diagnostic markers and tumor suppressor genes for
            adrenocortical carcinoma by expression profile of genes on
            chromosome 11q13
  JOURNAL   World J Surg 32 (5), 873-881 (2008)
   PUBMED   18324346
REFERENCE   8  (bases 1 to 1500)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 1500)
  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   10 (bases 1 to 1500)
  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 DA549653.1, BC009764.1,
            CF529680.1 and AP002770.3.
            
            On May 17, 2019 this sequence version replaced NM_016055.5.
            
            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. A pseudogene
            corresponding to this gene is found on chromosome 6p. Several
            transcript variants, some protein-coding and some non-protein
            coding, have been found for this gene. [provided by RefSeq, Jan
            2016].
            
            Transcript Variant: This variant (1) lacks an alternate in-frame
            exon compared to variant 2. The resulting isoform (1) has the same
            N- and C-termini but is shorter compared to isoform 2.
            
            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 :: SRR1803612.91577.1,
                                           SRR1660803.139938.1 [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                 :: ENST00000310614.12/
                                                  ENSP00000308717.7
            RefSeq Select criteria             :: based on conservation,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-115               DA549653.1         3-117
            116-972             BC009764.1         111-967
            973-978             CF529680.1         18-23               c
            979-1500            AP002770.3         116775-117296
FEATURES             Location/Qualifiers
     source          1..1500
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     gene            1..1500
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /note="mitochondrial ribosomal protein L48"
                     /db_xref="GeneID:51642"
                     /db_xref="HGNC:HGNC:16653"
                     /db_xref="MIM:611853"
     exon            1..119
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..737
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /note="isoform 1 is encoded by transcript variant 1; 39S
                     ribosomal protein L48, mitochondrial; mitochondrial large
                     ribosomal subunit protein mL48"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL48 isoform 1"
                     /protein_id="NP_057139.1"
                     /db_xref="CCDS:CCDS44676.1"
                     /db_xref="GeneID:51642"
                     /db_xref="HGNC:HGNC:16653"
                     /db_xref="MIM:611853"
                     /translation="MSGTLEKVLCLRNNTIFKQAFSLLRFRTSGEKPIYSVGGILLSI
                     SRPYKTKPTHGIGKYKHLIKAEEPKKKKGKVEVRAINLGTDYEYGVLNIHLTAYDMTL
                     AESYAQYVHNLCNSLSIKVEESYAMPTKTIEVLQLQDQGSKMLLDSVLTTHERVVQIS
                     GLSATFAEIFLEIIQSSLPEGVRLSVKEHTEEDFKGRFKARPELEELLAKLK"
     exon            120..172
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     exon            173..210
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     exon            211..299
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     exon            300..469
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     exon            470..572
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     exon            573..662
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     exon            663..1500
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /inference="alignment:Splign:2.1.0"
     regulatory      948..953
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /note="hexamer: AATAAA"
     polyA_site      972
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
                     /note="major polyA site"
     polyA_site      999
                     /gene="MRPL48"
                     /gene_synonym="CGI-118; HSPC290; L48MT; mL48; MRP-L48"
ORIGIN      
        1 gtcaaggccg ttccttcagt gttttcagac gccctgggaa cgcggctgca gggtccggtc
       61 ttcggtttgc acagctagag gccgcgcagc agcaaaggat gagcggaacc ttggaaaagg
      121 tgctgtgcct gaggaacaat accattttta agcaagcctt ttctctctta aggtttagaa
      181 cttcaggaga gaagcccatc tattctgtag gtggaattct actaagtatc agtcggccct
      241 acaagacaaa gcccacccac ggcattggaa agtacaagca cttaattaaa gcagaagagc
      301 ccaagaagaa gaagggaaaa gtggaagtga gagccattaa tttggggaca gattatgaat
      361 atggggtttt aaatattcat ctgactgcat atgatatgac cctggcagag agttatgccc
      421 agtatgttca caacctctgc aactctctct ccattaaagt cgaggaaagt tatgcaatgc
      481 caaccaaaac catagaagtg ttgcagttgc aggaccaagg cagcaaaatg ctcctggact
      541 cagtgcttac cacccatgag cgagtggttc agatcagcgg tttgagtgct acgtttgcag
      601 aaattttctt ggaaataatc caaagcagtc ttcctgaagg agtcagactg tcagtgaagg
      661 agcacactga agaagacttc aagggacgat tcaaagctcg accagaactg gaagaactgt
      721 tggccaagtt gaagtagcta ctgtagaccc tttcatgcca gcagtggtca tattgagtgc
      781 caaagagaag agcttactgg gtagttagag ttcatcagga gacccaaccc ttagatttca
      841 taagtaccca ttcccatagc cagtaatgtc ctcactcctc tgtggcttgg ctgtacttgc
      901 catttcttac cacttaccta tgaggtaatg cttgttatct tccatctaat aaaaatctgc
      961 tgcagatgtg tatatgtatg tgtgtgtgag agagagaaat tggcccatcc tgtggagtat
     1021 ctttaagaga ttctatattc tggccaggca ccgtggtgca tccctgtaat cccagcactt
     1081 tgcgaggccg aggcaggagg actgctcgag gccaggagct tgagaccagc ctggcaacat
     1141 tctgtcttta ccaaaaacat tctttttttt ttttccgaaa cggagtctcg ctctgttgcc
     1201 caggctggag tgcagtggca cgatctagac tcactgcaag ctctgcctcc cgggttcaca
     1261 ccattctcct gcctcagcct cccaagtagc tgggactgca ggcgcccgcc accacacctg
     1321 gctaattttt tgtattttta gtagagacgg ggttttacca tgttagccaa gatggtctcg
     1381 atctcctgac ctcgtgatcc gccagccttg gcctcccaaa gtgctgggat tacaggtgtg
     1441 agccactgca cccagccaaa ctttttattt taattagctg gacgtggtgg tatgcacttg
//
