LOCUS       NM_022915               1689 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L44 (MRPL44), mRNA.
ACCESSION   NM_022915
VERSION     NM_022915.5
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 1689)
  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 1689)
  AUTHORS   Friederich,M.W., Geddes,G.C., Wortmann,S.B., Punnoose,A.,
            Wartchow,E., Knight,K.M., Prokisch,H., Creadon-Swindell,G.,
            Mayr,J.A. and Van Hove,J.L.K.
  TITLE     Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to
            a mitochondrial translation defect
  JOURNAL   Mol Genet Metab 133 (4), 362-371 (2021)
   PUBMED   34140213
  REMARK    GeneRIF: Pathogenic variants in MRPL44 cause infantile
            cardiomyopathy due to a mitochondrial translation defect.
REFERENCE   3  (bases 1 to 1689)
  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 1689)
  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 1689)
  AUTHORS   Lee,J., Seol,M.Y., Jeong,S., Lee,C.R., Ku,C.R., Kang,S.W.,
            Jeong,J.J., Shin,D.Y., Nam,K.H., Lee,E.J., Chung,W.Y. and Jo,Y.S.
  TITLE     A metabolic phenotype based on mitochondrial ribosomal protein
            expression as a predictor of lymph node metastasis in papillary
            thyroid carcinoma
  JOURNAL   Medicine (Baltimore) 94 (2), e380 (2015)
   PUBMED   25590838
  REMARK    GeneRIF: MRPL44 expression may be a representative marker of
            metabolic phenotype according to OxPhos amount and a useful
            predictor of lymph node metastasis in Papillary thyroid carcinoma.
            Erratum:[Medicine (Baltimore). 2015 Feb;94(8):1]
REFERENCE   6  (bases 1 to 1689)
  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 1689)
  AUTHORS   Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
  TITLE     A germline-specific class of small RNAs binds mammalian Piwi
            proteins
  JOURNAL   Nature 442 (7099), 199-202 (2006)
   PUBMED   16751776
REFERENCE   8  (bases 1 to 1689)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 1689)
  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 1689)
  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 AC073641.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_022915.4.
            
            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. [provided by
            RefSeq, Jul 2008].
            
            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 :: AK022763.1, AK024052.1 [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                 :: ENST00000258383.4/
                                                  ENSP00000258383.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-189               AC073641.3         102468-102656
            190-658             AC073641.3         104539-105007
            659-837             AC073641.3         108761-108939
            838-1689            AC073641.3         111868-112719
FEATURES             Location/Qualifiers
     source          1..1689
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.1"
     gene            1..1689
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /note="mitochondrial ribosomal protein L44"
                     /db_xref="GeneID:65080"
                     /db_xref="HGNC:HGNC:16650"
                     /db_xref="MIM:611849"
     exon            1..189
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..1009
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /EC_number="3.1.26.-"
                     /note="39S ribosomal protein L44, mitochondrial;
                     mitochondrial large ribosomal subunit protein mL44"
                     /codon_start=1
                     /product="large ribosomal subunit protein mL44"
                     /protein_id="NP_075066.1"
                     /db_xref="CCDS:CCDS2459.1"
                     /db_xref="GeneID:65080"
                     /db_xref="HGNC:HGNC:16650"
                     /db_xref="MIM:611849"
                     /translation="MASGLVRLLQQGHRCLLAPVAPKLVPPVRGVKKGFRAAFRFQKE
                     LERQRLLRCPPPPVRRSEKPNWDYHAEIQAFGHRLQENFSLDLLKTAFVNSCYIKSEE
                     AKRQQLGIEKEAVLLNLKSNQELSEQGTSFSQTCLTQFLEDEYPDMPTEGIKNLVDFL
                     TGEEVVCHVARNLAVEQLTLSEEFPVPPAVLQQTFFAVIGALLQSSGPERTALFIRDF
                     LITQMTGKELFEMWKIINPMGLLVEELKKRNVSAPESRLTRQSGGTTALPLYFVGLYC
                     DKKLIAEGPGETVLVAEEEAARVALRKLYGFTENRRPWNYSKPKETLRAEKSITAS"
     exon            190..658
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /inference="alignment:Splign:2.1.0"
     exon            659..837
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /inference="alignment:Splign:2.1.0"
     exon            838..1689
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1140..1145
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /note="hexamer: ATTAAA"
     polyA_site      1163
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
     regulatory      1662..1667
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /note="hexamer: AATAAA"
     polyA_site      1689
                     /gene="MRPL44"
                     /gene_synonym="COXPD16; L44MT; mL44; MRP-L44"
                     /note="major polyA site"
ORIGIN      
        1 ctctcgtgca atggcgtccg ggctggtaag attgctgcag cagggacatc gctgcctcct
       61 ggctccagtc gcccccaagc tggtccctcc ggttcgggga gtgaagaagg gattccgcgc
      121 cgccttccgc ttccagaagg agttagagcg gcagcgcctt ctgcggtgcc cgccgccgcc
      181 cgtgcgccgt tcagagaagc cgaactggga ttaccatgca gaaatacaag cttttggaca
      241 tcggttacag gaaaactttt ccttagatct tctcaaaact gcatttgtta atagctgcta
      301 tattaaaagt gaggaggcca aacgccaaca acttgggata gagaaagaag ctgttcttct
      361 gaatcttaaa agtaatcaag aactatccga acaagggaca tctttttcac agacttgcct
      421 tacacagttt cttgaagacg agtacccaga catgcccact gaaggcataa aaaatcttgt
      481 tgactttctc actggtgagg aagtcgtgtg tcacgtggct agaaacttgg ctgtggagca
      541 gttaacactg agtgaagaat tcccagtgcc cccagctgtg ttacagcaga ctttctttgc
      601 agttattgga gccctgttac agagcagtgg acctgagagg actgcacttt tcatcaggga
      661 cttcttaatt actcaaatga ctggaaaaga gctctttgag atgtggaaga taataaatcc
      721 catggggcta ttggtagaag aactgaagaa aaggaatgtt tcagctcctg aatcaagact
      781 tactaggcag tctggtggca ccacagcttt gcctttgtat tttgttggct tatactgtga
      841 taaaaagttg attgcagaag gacctgggga aacagtattg gttgcagaag aagaggctgc
      901 tcgagtggcc cttagaaaac tttatggatt cacagaaaat agacggccgt ggaactattc
      961 caagcccaaa gaaaccttga gagcagaaaa gagcatcact gccagctagc cgccatggat
     1021 gcagcagcct gaaacttgag agcgaaagtg agataaatgt caaaggtgtt tcaagccaga
     1081 cattttcaca attgtgaaga aatagatgtt ttgtttctgt tttttactgt gttcccaaaa
     1141 ttaaataagt gttaaccaag tcacagtgtt tttggttttg tttttctgaa atcttggttt
     1201 gatcaaatct tttttttttt ctcttgagat ggagtcttac tctgtcgccc aggctggact
     1261 gcagtggtgc gatctcggct cactgcaacc tccacctcac aggttcaagc gattctcgtg
     1321 gctcagcctc cctagtagct gggattacag gcacacacca ccatacctgg ctaatttttg
     1381 tatttttggt agacatgggg tttcaccaag ttggctaggc tagtcttgaa ctcctgacct
     1441 caggtgatcc acccgccttg gcctcccaaa gtgctgggat tacaggtgtg agccactata
     1501 cccgaccaga tcaaatcttt ttttgacatt tttgcaaaaa aattttccta atgttcttga
     1561 tttaattgta tagaatttgt ataattaggt gtattttatt tgcgtctagc tttgaggtat
     1621 cataatttat gtatcttatg tgaatttttt gctgtaatac caataaagtt ttttttctcc
     1681 acatgttaa
//
