LOCUS       NM_032112                999 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L43 (MRPL43),
            transcript variant 1, mRNA.
ACCESSION   NM_032112
VERSION     NM_032112.3
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 999)
  AUTHORS   Shigemizu,D., Asanomi,Y., Akiyama,S., Higaki,S., Sakurai,T.,
            Ito,K., Niida,S. and Ozaki,K.
  TITLE     Network-based meta-analysis and the candidate gene association
            studies reveal novel ethnicity-specific variants in MFSD3 and
            MRPL43 associated with dementia with Lewy bodies
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 189 (5), 139-150 (2022)
   PUBMED   35765761
  REMARK    GeneRIF: Network-based meta-analysis and the candidate gene
            association studies reveal novel ethnicity-specific variants in
            MFSD3 and MRPL43 associated with dementia with Lewy bodies.
REFERENCE   2  (bases 1 to 999)
  AUTHORS   Han,J. and Lee,C.
  TITLE     Antagonistic regulatory effects of a single cis-acting expression
            quantitative trait locus between transcription and translation of
            the MRPL43 gene
  JOURNAL   BMC Genom Data 23 (1), 42 (2022)
   PUBMED   35659240
  REMARK    GeneRIF: Antagonistic regulatory effects of a single cis-acting
            expression quantitative trait locus between transcription and
            translation of the MRPL43 gene.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 999)
  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   4  (bases 1 to 999)
  AUTHORS   Zhu,X., Liu,Y., Xu,J., Cheng,Z., Yu,Y., Chu,M., Lu,X. and Yuan,W.
  TITLE     miR-608 rs4919510 Polymorphism May Affect Susceptibility to
            Colorectal Cancer by Upregulating MRPL43 Expression
  JOURNAL   DNA Cell Biol 39 (11), 2017-2027 (2020)
   PUBMED   33147064
  REMARK    GeneRIF: miR-608 rs4919510 Polymorphism May Affect Susceptibility
            to Colorectal Cancer by Upregulating MRPL43 Expression.
REFERENCE   5  (bases 1 to 999)
  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   6  (bases 1 to 999)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 999)
  AUTHORS   Tyynismaa,H., Sembongi,H., Bokori-Brown,M., Granycome,C.,
            Ashley,N., Poulton,J., Jalanko,A., Spelbrink,J.N., Holt,I.J. and
            Suomalainen,A.
  TITLE     Twinkle helicase is essential for mtDNA maintenance and regulates
            mtDNA copy number
  JOURNAL   Hum Mol Genet 13 (24), 3219-3227 (2004)
   PUBMED   15509589
REFERENCE   8  (bases 1 to 999)
  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 999)
  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   10 (bases 1 to 999)
  AUTHORS   Suzuki,T., Terasaki,M., Takemoto-Hori,C., Hanada,T., Ueda,T.,
            Wada,A. and Watanabe,K.
  TITLE     Structural compensation for the deficit of rRNA with proteins in
            the mammalian mitochondrial ribosome. Systematic analysis of
            protein components of the large ribosomal subunit from mammalian
            mitochondria
  JOURNAL   J Biol Chem 276 (24), 21724-21736 (2001)
   PUBMED   11279069
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG620490.1, AK291069.1,
            BC015905.1, AL133215.17 and BM455058.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_032112.2.
            
            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 39S subunit protein. This gene and
            the gene for a semaphorin class 4 protein (SEMA4G) overlap at map
            location 10q24.31 and are transcribed in opposite directions.
            Sequence analysis identified multiple transcript variants encoding
            at least four different protein isoforms. [provided by RefSeq, Jul
            2008].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            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 :: SRR5189664.124493.1,
                                           SRR7410570.466716.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000318364.13/
                                                  ENSP00000315948.8
            RefSeq Select criteria             :: based on manual assertion,
                                                  expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-27                BG620490.1         21-47
            28-81               AK291069.1         1-54
            82-793              BC015905.1         100-811
            794-994             AL133215.17        69098-69298         c
            995-998             BM455058.1         161-164
            999-999             AL133215.17        69093-69093         c
FEATURES             Location/Qualifiers
     source          1..999
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.31"
     gene            1..999
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /note="mitochondrial ribosomal protein L43"
                     /db_xref="GeneID:84545"
                     /db_xref="HGNC:HGNC:14517"
                     /db_xref="MIM:611848"
     exon            1..185
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..534
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /note="isoform a is encoded by transcript variant 1; 39S
                     ribosomal protein L43, mitochondrial; mitochondrial
                     ribosomal protein bMRP36a; mitochondrial large ribosomal
                     subunit protein mL43"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL43 isoform a"
                     /protein_id="NP_115488.2"
                     /db_xref="CCDS:CCDS7505.1"
                     /db_xref="GeneID:84545"
                     /db_xref="HGNC:HGNC:14517"
                     /db_xref="MIM:611848"
                     /translation="MTARGTPSRFLASVLHNGLGRYVQQLQRLSFSVSRDGASSRGAR
                     EFVEREVIDFARRNPGVVIYVNSRPCCVPRVVAEYLNGAVREESIHCKSVEEISTLVQ
                     KLADQSGLDVIRIRKPFHTDNPSIQGQWHPFTNKPTTFRGLRPREVQDPAPAQVQAQ"
     exon            186..292
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /inference="alignment:Splign:2.1.0"
     exon            293..999
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /inference="alignment:Splign:2.1.0"
     regulatory      973..978
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /note="hexamer: AATAAA"
     polyA_site      999
                     /gene="MRPL43"
                     /gene_synonym="bMRP36a; L43mt; mL43; MRP-L43"
                     /note="major polyA site"
ORIGIN      
        1 agtcccgccc ccctctcctc gctgcttagg ctccgcggcc tccaagctgt agctatgacg
       61 gcgcgcggga ctccgagccg cttcttggcc agcgttctcc acaacggact gggtcgctat
      121 gtgcagcagc tgcagcgtct gagcttcagc gtcagccgcg acggcgcctc gtctcgcggc
      181 gccagggagt tcgtggagcg ggaggtgatc gacttcgccc gacggaatcc aggggtcgta
      241 atatatgtaa actcgcgtcc gtgctgcgtg cccagagtag tggccgaata ccttaacggg
      301 gctgtgcgcg aggagagcat ccactgcaag tcggtcgagg agatctcgac gctggtgcag
      361 aagctggccg accagtcggg cttggacgtg atccgcatcc gcaagccctt ccacaccgac
      421 aaccctagca tccagggcca gtggcacccc ttcaccaaca agccgaccac gttccgcggg
      481 ctacgccccc gagaggttca ggatcctgcc ccagcccagg tgcaagcaca gtgaagagtt
      541 gccccaccaa ctgcagcccc aggctttgga ctgttactcc ggtaaaggtg gttcttcccc
      601 tttgggattc caagcccagg caaatggaac ccatcaatgg gcaagttgac agaggttctg
      661 cttgggataa tgaagagctg cctgtttctt tccagtgcct gcttctgggg gcagtgacct
      721 tgtgaaccac tcatttttat gcaagtggca tccctaaaac ctgagatgag gaagacttca
      781 agggttttac agggcccttg ttttttaaat ccaaattgat aataatgatc tcaaaacaca
      841 gtgagaggtc tgaaggctgg cttctgaaga atccctgatg tcttattgga acaaccactg
      901 agctacggag agctctgctg tgatgggcta ggcactttat atctgtgtga atacagattt
      961 ataaaacagg ttaataaact tatccaaggt cacatttca
//
