LOCUS       NM_016067               1550 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein S18C (MRPS18C),
            transcript variant 1, mRNA.
ACCESSION   NM_016067
VERSION     NM_016067.4
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 1550)
  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 1550)
  AUTHORS   Kovalevska,L.M., Malysheva,T.A., Kalman,S.S., Rozumenko,A.V.,
            Verbova,L.V., Rozumenko,V.D. and Kashuba,E.V.
  TITLE     Expression pattern of MRPS18 family genes in gliomas
  JOURNAL   Exp Oncol 43 (3), 204-208 (2021)
   PUBMED   34591434
  REMARK    GeneRIF: Expression pattern of MRPS18 family genes in gliomas.
REFERENCE   3  (bases 1 to 1550)
  AUTHORS   Rodriguez-Garcia,M.E., Cotrina-Vinagre,F.J., Carnicero-Rodriguez,P.
            and Martinez-Azorin,F.
  TITLE     An innovative strategy to clone positive modifier genes of defects
            caused by mtDNA mutations: MRPS18C as suppressor gene of m.3946G>A
            mutation in MT-ND1 gene
  JOURNAL   Hum Genet 136 (7), 885-896 (2017)
   PUBMED   28526948
  REMARK    GeneRIF: Overexpression of MRPS18C gene (that encode for bS18m
            protein) suppressed the molecular defects produced by this mtDNA
            mutation, recovering the complex I activity and reducing the
            reactive oxygen species produced by this complex to normal levels.
REFERENCE   4  (bases 1 to 1550)
  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 1550)
  AUTHORS   Amunts,A., Brown,A., Toots,J., Scheres,S.H.W. and Ramakrishnan,V.
  TITLE     Ribosome. The structure of the human mitochondrial ribosome
  JOURNAL   Science 348 (6230), 95-98 (2015)
   PUBMED   25838379
REFERENCE   6  (bases 1 to 1550)
  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 1550)
  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   8  (bases 1 to 1550)
  AUTHORS   Cavdar Koc,E., Burkhart,W., Blackburn,K., Moseley,A. and
            Spremulli,L.L.
  TITLE     The small subunit of the mammalian mitochondrial ribosome.
            Identification of the full complement of ribosomal proteins present
  JOURNAL   J Biol Chem 276 (22), 19363-19374 (2001)
   PUBMED   11279123
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF151892.1 and AC096768.3.
            
            On Nov 22, 2018 this sequence version replaced NM_016067.3.
            
            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 28S subunit protein that belongs to
            the ribosomal protein S18P family. The encoded protein is one of
            three that has significant sequence similarity to bacterial S18
            proteins. The primary sequences of the three human mitochondrial
            S18 proteins are no more closely related to each other than they
            are to the prokaryotic S18 proteins. Pseudogenes corresponding to
            this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided
            by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.16371.1,
                                           SRR1803611.183453.1 [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                 :: ENST00000295491.9/
                                                  ENSP00000295491.4
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-861               AF151892.1         40-900
            862-1550            AC096768.3         78823-79511
FEATURES             Location/Qualifiers
     source          1..1550
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q21.23"
     gene            1..1550
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /note="mitochondrial ribosomal protein S18C"
                     /db_xref="GeneID:51023"
                     /db_xref="HGNC:HGNC:16633"
                     /db_xref="MIM:611983"
     exon            1..120
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..449
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /note="isoform 1 is encoded by transcript variant 1;
                     mitochondrial ribosomal protein S18-1; 28S ribosomal
                     protein S18c, mitochondrial; 28S ribosomal protein S18-1,
                     mitochondrial; mitochondrial small ribosomal subunit
                     protein bS18m-C; mitochondrial small ribosomal subunit
                     protein bS18c"
                     /codon_start=1
                     /product="small ribosomal subunit protein bS18m isoform 1"
                     /protein_id="NP_057151.1"
                     /db_xref="CCDS:CCDS3604.1"
                     /db_xref="GeneID:51023"
                     /db_xref="HGNC:HGNC:16633"
                     /db_xref="MIM:611983"
                     /translation="MAAVVAVCGGLGRKKLTHLVTAAVSLTHPGTHTVLWRRGCSQQV
                     SSNEDLPISMENPYKEPLKKCILCGKHVDYKNVQLLSQFVSPFTGCIYGRHITGLCGK
                     KQKEITKAIKRAQIMGFMPVTYKDPAYLKDPKVCNIRYRE"
     exon            121..170
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /inference="alignment:Splign:2.1.0"
     exon            171..254
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /inference="alignment:Splign:2.1.0"
     exon            255..312
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /inference="alignment:Splign:2.1.0"
     exon            313..372
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /inference="alignment:Splign:2.1.0"
     exon            373..1550
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /inference="alignment:Splign:2.1.0"
     regulatory      469..474
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /note="hexamer: AATAAA"
     polyA_site      489
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /note="major polyA site"
     regulatory      645..650
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /note="hexamer: AATAAA"
     polyA_site      675
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
     regulatory      1525..1530
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
                     /note="hexamer: AATAAA"
     polyA_site      1550
                     /gene="MRPS18C"
                     /gene_synonym="bS18m; CGI-134; MRP-S18-1; MRP-S18-c;
                     MRPS18-1; mrps18-c; S18mt-c"
ORIGIN      
        1 agtggaagaa acgcggaacc atggccgctg tggttgctgt ttgcggtggt ctagggagga
       61 agaagttgac acacttggta acggctgctg tcagccttac acatcccggg actcacacgg
      121 tgctttggag aagaggttgt tcacaacagg tatccagcaa tgaggacctg cccatttcaa
      181 tggaaaatcc ttataaagaa cctcttaaga aatgtatctt gtgtggaaag catgtagatt
      241 ataagaatgt acagcttttg tcccagtttg tttctccatt tactggatgc atttatggaa
      301 ggcacattac aggtctttgt gggaagaaac agaaagaaat cacaaaagca attaagagag
      361 ctcaaataat ggggtttatg ccagttacat acaaggatcc tgcatatctc aaggacccta
      421 aagtttgtaa catcagatat cgggaataaa ttctatcacg ttaccactaa taaacttatt
      481 ttacagtaag tggttgtatg atgccaatac tgactcaaac caacctttgg atagaaaagt
      541 gtttgaggag tgaggtaaag aatgacactt ccccttcata ccaatgtcca ttaagcagat
      601 tgcttattta aaatgttaac actcatcaca ttttatctat gttgaataaa agtggttctg
      661 tgtgattgtc atttatatct gatccccaaa tagctcatac aataatccat tcaatagaat
      721 ggaattaaaa ctgttcagaa tgattttcca actagcaaat ataagtatgc ctggttaaga
      781 tatcttccct ttgtagaaat gttacattgg gatggatagt ggtgctgtca cagaaggaca
      841 aaatattcct agacgagtct accctcaaac cagtagtgtc ttttacatga agagatgatt
      901 tacacctaat agacattgaa tatgatagac atacatgtat atatgtatca gttctgagtt
      961 ccactggcct atcccaaata cactggatta ccaggcttgt actgtattca aaatgataga
     1021 tttgctaaat ttcatgcaaa ggactctaaa ctaggggaga gattactgtt tgtgttgtgt
     1081 tatagttgtg taataattaa ggctgccaga tttagcaagt acaaatgtag gacaaattta
     1141 aattttagat gatgttttgc aaatttattg catgatatcc agcattttat ctggcaactc
     1201 tagccataat gtacttctaa aaaagtatca cttaaggaga attttaatga ctcagataaa
     1261 ttttcatata aatttctttc catattttga aaataaggct attcttgctt ttccatttta
     1321 ttttttaata gacatggtct caatacgttg cccaggctgg tctctaactc ctaacttcaa
     1381 tcaatcctcc tgacttgtct tccctaagtg ctgggattac aggtgtgagc cactgtgcct
     1441 ggtctcactt ttccaattct aaagaatgtg tctgtgtaag ccttcccctc aacaacttag
     1501 tgaaaggtga aaaaaaggtt tggaaataaa agcatctgat gtttgaaaaa
//
