LOCUS       NM_004927               2026 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L49 (MRPL49),
            transcript variant 1, mRNA.
ACCESSION   NM_004927
VERSION     NM_004927.4
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 2026)
  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 2026)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2026)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2026)
  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 2026)
  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 2026)
  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 2026)
  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   8  (bases 1 to 2026)
  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 2026)
  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
REFERENCE   10 (bases 1 to 2026)
  AUTHORS   Kas,K., Lemahieu,V., Meyen,E., Van de Ven,W.J. and Merregaert,J.
  TITLE     Isolation, cDNA, and genomic structure of a conserved gene (NOF) at
            chromosome 11q13 next to FAU and oriented in the opposite
            transcriptional orientation
  JOURNAL   Genomics 34 (3), 433-436 (1996)
   PUBMED   8786148
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG250495.1, BC004378.1 and
            AP003068.3.
            
            On May 17, 2019 this sequence version replaced NM_004927.3.
            
            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. Pseudogenes corresponding to this gene are found on
            chromosomes 5q and 8p. [provided by RefSeq, May 2011].
            
            Transcript Variant: This variant (1) is the predominant transcript
            and it encodes the functional protein.
            
            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 :: SRR1803612.160957.1,
                                           SRR1660805.13441.1 [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                 :: ENST00000279242.7/
                                                  ENSP00000279242.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-596               BG250495.1         66-661
            597-2024            BC004378.1         582-2009
            2025-2026           AP003068.3         87436-87437
FEATURES             Location/Qualifiers
     source          1..2026
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2026
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /note="mitochondrial ribosomal protein L49"
                     /db_xref="GeneID:740"
                     /db_xref="HGNC:HGNC:1176"
                     /db_xref="MIM:606866"
     exon            1..104
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..527
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /note="neighbor of FAU; next to FAU; 39S ribosomal protein
                     L49, mitochondrial; mitochondrial large ribosomal subunit
                     protein mL49"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL49"
                     /protein_id="NP_004918.1"
                     /db_xref="CCDS:CCDS8096.1"
                     /db_xref="GeneID:740"
                     /db_xref="HGNC:HGNC:1176"
                     /db_xref="MIM:606866"
                     /translation="MAATMFRATLRGWRTGVQRGCGLRLLSQTQGPPDYPRFVESVDE
                     YQFVERLLPATRIPDPPKHEHYPTPSGWQPPRDPPPNLPYFVRRSRMHNIPVYKDITH
                     GNRQMTVIRKVEGDIWALQKDVEDFLSPLLGKTPVTQVNEVTGTLRIKGYFDQELKAW
                     LLEKGF"
     exon            105..255
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /inference="alignment:Splign:2.1.0"
     exon            256..380
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /inference="alignment:Splign:2.1.0"
     exon            381..2026
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1978..1983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /note="hexamer: ATTAAA"
     regulatory      2003..2008
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /note="hexamer: ATTAAA"
     polyA_site      2008
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
                     /note="major polyA site"
     polyA_site      2026
                     /gene="MRPL49"
                     /gene_synonym="C11orf4; L49mt; mL49; MRP-L49; NOF; NOF1"
ORIGIN      
        1 acagaaggct ggcgtagcag gtaaagatgg cagctaccat gttccgggct acgctgcggg
       61 gatggagaac cggtgtccag cggggctgcg ggctacggct gttgagccag acccagggcc
      121 ctccagatta ccccaggttt gtggagtctg tggatgaata tcagtttgtg gagcgcctgt
      181 taccggctac caggatccca gatcccccaa agcatgaaca ttatcctacc cctagtggct
      241 ggcagcctcc cagagacccc ccacccaacc tgccttactt tgtacgacgc tctcggatgc
      301 acaacatccc cgtctacaag gacatcacgc atggcaaccg gcagatgact gtgatccgga
      361 aagtggaagg ggacatctgg gccctgcaga aagacgtgga agattttctg agcccgctgc
      421 tggggaagac acctgtcacc caggtcaatg aggtgacagg taccctacgg atcaagggct
      481 actttgacca ggagcttaaa gcctggctct tggagaaagg cttctgaggc ccagccgagc
      541 agcctgcttg tcagcatgcc ctgtggatca agtctagggg gcctcaggag gagggaggtg
      601 ggtgttggag cccctgagac aggggataca gaaactaggg ctaaaggact ttggggtcag
      661 gccttgcttg cataaaggag aaaacaactc tatgtacatg ctgggggaga gtgcctaatg
      721 tgggagacca aatagggatc accaggctaa tggggggcgt cagcagcttt ctctccctcc
      781 tatcttggcc tgttcttttt tgttttttga gacggagtct cactctgttg cccagggtgg
      841 agtgcagtgg catgatcttg gctcactgca acttccacct ctgggatcaa gggattctcc
      901 tgcctcagcc tcttgagtag ctgggattac aggcgcccac caccacagcc tgctaatttt
      961 tgtattttta gtagagatgg ggtttcacca tgttggccag gctggtctca aactcctgac
     1021 tcgaagtgat ccgcccacct tggcctccca aagcgttggg attataggca tgagccatgt
     1081 gcctggtcca ccttggcctg ttttgttttt ctttccttgg gctcagcaat tcaaattcta
     1141 gttgttattt ggtggaagca gtagcccaac cccagtttag gggaaggtag cacagggcag
     1201 agccactggg cactttgttt ccttggccct ccgaagctca ctgttgcaaa tacccccaag
     1261 cctttgctct aggccagatc ttgtttggtg caggtgatgg agaacacaga tgactcgggc
     1321 atgggtcttg gagatcttct gttcaaagta cagtgctggc actggggcac agagtgccca
     1381 cgttagcccc gggctctgat agagaggtag gaggcacgtt cttggtcact gttccattgc
     1441 agaccagact tgctggcctg accacaaggg agtggctggg aactcacagc cagcataggg
     1501 acatccccct gcagccttct gacctgcaat caaggctggg gaggggtttg caggcaggaa
     1561 tatgctgacc tttcaccctg ccatcccatc ccaaccccag ctcactagcc ttcatatatg
     1621 ccttatactt ggagtcacag gggccaaagg cctgagaccc caccctgccc ccaaactggc
     1681 taagacagct ttcagttcct gactccccaa cttggtctct gccctgaagc agggcactga
     1741 actctgggct gcttctctgt gtgtaaaatg ggcacatctt cctaatctgt taatggtcag
     1801 tggtgtcccc aaggatagtg ctggcttcca tggaaaccct cactcctgga gattccattc
     1861 cattttcaag tgtacagcca cagcaaggag cccgacactg atttgatcga ttctgtgaca
     1921 caaaccccac caattgttaa tgcaagtttt tatttggctg tatatacaat ttaagctatt
     1981 aaaatttgta caatatttac aaattaaata atcatctgaa actgtc
//
