LOCUS       NM_145212               4435 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein L30 (MRPL30),
            transcript variant 1, mRNA.
ACCESSION   NM_145212
VERSION     NM_145212.4
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 4435)
  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 4435)
  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   3  (bases 1 to 4435)
  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   4  (bases 1 to 4435)
  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   5  (bases 1 to 4435)
  CONSRTM   Psychiatric GWAS Consortium Bipolar Disorder Working Group
  TITLE     Large-scale genome-wide association analysis of bipolar disorder
            identifies a new susceptibility locus near ODZ4
  JOURNAL   Nat Genet 43 (10), 977-983 (2011)
   PUBMED   21926972
  REMARK    Erratum:[Nat Genet. 2012 Sep;44(9):1072. Fullerton, Janice M
            [added]; Hyoun, Phil L [corrected to Lee, Phil H]; Meng, Fan Guo
            [corrected to Meng, Fan]]
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4435)
  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 4435)
  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 4435)
  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   9  (bases 1 to 4435)
  AUTHORS   Goldschmidt-Reisin,S., Kitakawa,M., Herfurth,E.,
            Wittmann-Liebold,B., Grohmann,L. and Graack,H.R.
  TITLE     Mammalian mitochondrial ribosomal proteins. N-terminal amino acid
            sequencing, characterization, and identification of corresponding
            gene sequences
  JOURNAL   J Biol Chem 273 (52), 34828-34836 (1998)
   PUBMED   9857009
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC022391.1, BU533068.1,
            AC092587.3, AC079447.4, BC013822.1 and DB353963.1.
            
            On Nov 22, 2018 this sequence version replaced NM_145212.3.
            
            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 39S subunit protein. Alternative
            splicing results in multiple transcript variants. Pseudogenes
            corresponding to this gene are found on chromosomes 6p and 12p.
            Read-through transcription also exists between this gene and the
            neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by
            RefSeq, Mar 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the supported protein.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.188382.1,
                                           SRR1660803.206991.1 [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                 :: ENST00000338148.8/
                                                  ENSP00000338057.3
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-146               BC022391.1         70-215
            147-533             BU533068.1         182-568
            534-839             BC022391.1         603-908
            840-1500            AC092587.3         66820-67480
            1501-2295           AC079447.4         1-795
            2296-2500           BC013822.1         1133-1337
            2501-4365           AC079447.4         1001-2865
            4366-4431           DB353963.1         26-91               c
            4432-4435           AC079447.4         2932-2935
FEATURES             Location/Qualifiers
     source          1..4435
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..4435
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="mitochondrial ribosomal protein L30"
                     /db_xref="GeneID:51263"
                     /db_xref="HGNC:HGNC:14036"
                     /db_xref="MIM:611838"
     exon            1..66
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /inference="alignment:Splign:2.1.0"
     exon            67..144
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /inference="alignment:Splign:2.1.0"
     CDS             94..579
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="39S ribosomal protein L28, mitochondrial;
                     mitochondrial large ribosomal subunit protein uL30m"
                     /codon_start=1
                     /product="large ribosomal subunit protein uL30m precursor"
                     /protein_id="NP_660213.1"
                     /db_xref="CCDS:CCDS2041.1"
                     /db_xref="GeneID:51263"
                     /db_xref="HGNC:HGNC:14036"
                     /db_xref="MIM:611838"
                     /translation="MAGILRLVVQWPPGRLQTVTKGVESLICTDWIRHKFTRSRIPEK
                     VFQASPEDHEKYGGDPQNPHKLHIVTRIKSTRRRPYWEKDIIKMLGLEKAHTPQVHKN
                     IPSVNAKLKVVKHLIRIKPLKLPQGLPAEENMSNTCLKSTGELVVQWHLKPVEQKAHE
                     S"
     exon            145..225
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /inference="alignment:Splign:2.1.0"
     exon            226..372
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /inference="alignment:Splign:2.1.0"
     exon            373..446
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /inference="alignment:Splign:2.1.0"
     exon            447..4435
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2293..2298
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="hexamer: AATAAG"
     polyA_site      2309
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="major polyA site"
     regulatory      2470..2475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="hexamer: AATAAA"
     polyA_site      2500
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
     regulatory      4391..4396
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="hexamer: AATAAG"
     regulatory      4411..4416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
                     /note="hexamer: AATAAA"
     polyA_site      4412
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
     polyA_site      4435
                     /gene="MRPL30"
                     /gene_synonym="L28MT; L30MT; MRP-L28; MRP-L30; MRPL28;
                     MRPL28M; RPML28; uL30m"
ORIGIN      
        1 gtagttcttc ctctgctctg cttcccttcg gaggaaaatt tcaggctgaa ggtttagcgg
       61 gtgccgcctc taaagagagc aatcactaca cttatggctg ggattttgcg cttagtagtt
      121 caatggcccc caggcagact acagactgtg acaaaaggtg tggagtctct tatttgtaca
      181 gattggattc gtcacaaatt caccagatca agaattccag aaaaagtgtt tcaggcctca
      241 cctgaagatc atgaaaaata cggtggggat ccacagaacc ctcataaact gcatattgtt
      301 accagaataa aaagtacaag aagacgtcca tattgggaaa aagatataat aaagatgctt
      361 ggattagaaa aagcacatac ccctcaagtt cacaagaata tcccttcagt gaatgcaaaa
      421 ttgaaagtag ttaagcattt gataagaatc aagcccttga agttgccaca aggacttcca
      481 gcagaggaga acatgtctaa cacgtgcctc aaaagcactg gggagttagt agtgcagtgg
      541 catctgaaac ctgtggagca gaaagcacat gagtcctaat gccccagcag cttccgattg
      601 gaaaatgcaa attgttttta tttaaagatg gtgagaaagt gttttcatta aaatatgttt
      661 tcaaaaccat tttcaggccg ggcacggtgg ctcacctgta atcccagcac tttgggaggc
      721 caaggcgggc agatcacctg aggtcaagag ttcgagacca gcctgaccaa catggagaaa
      781 cccccatctc tactgaaaat acagaattag ccaggcatgg tggcacatgc ctgtaaccca
      841 gctactcggg aggctgaagc aggagaatca cttgaacccg ggaggcagag gttgcagtga
      901 gctgagatgg tgccactgta ctccagcctg ggtgatagga tgagactcca tctcagggga
      961 aaaaaaaaaa tttttttttc actgactaaa cctgctgcag ctctctttta ctacagactt
     1021 ggagatttta gtttaatttg gtttaattct ctgtcctttc cctttcactg tttcactcca
     1081 aaacatgtaa gaatggcaat gtttgaacat ctgcgtttgg gtctactgcc accttagcaa
     1141 gcctcattaa ccattttata aaaattgcgt tagtattgtt gttgttgttt ttgagacagg
     1201 gtcttgctct gtcacccaag ctggaataca gtggcatgat ttcagttcac tgcagcctcg
     1261 acctcccagg ctcaagtgat cctcccacct cagcctccag agtagctagg actacaggca
     1321 gtgtgccacc acatccagct aattttttaa agttttttca tagagacagg gactcactat
     1381 gttgtccaag ctggtctcaa actcctgggt tcaagccatc ctcccacctc agcctcccaa
     1441 aatgctggga ttacaggcat gagccactgt acccagccaa aattgttttc ttttttaagt
     1501 gaattcaaca atttctgtga gtggctcttt gcatgaacac tgtgcaaggt gttggagaaa
     1561 tccaaagctg accaaaacat ggtccccacc ttttggagct tacagtctgt tctggggaac
     1621 agagattcag ccaaagtcaa gaaacactgg atgccagcta gattatctgt tctgtgcttt
     1681 ggtgtctata agtacatatg tggatatggg ttcattttat ccctaaactt agtaccaaac
     1741 cagcatttaa tatctaatta taaatctaat ttggcctaaa ctttattatt gcacactgcc
     1801 tgaacaaaac ctatttgtct ctatgtaaat tttttcctca tggaacaagg gtgtgaaatg
     1861 aaaatatttt aggatttatt caaaaacaga ctattctgtt ttcagcttca gaattgttct
     1921 ttgaatccta aggaacctct gtcaacagtt gaggttgctg ttgaaaagaa agaagaagga
     1981 ggcggaaatc tctcagggag aattatttcc tttcttttct attttagata cctggagggg
     2041 tggggagaag taagaattgt aagggaggtt cagtagtggg gaattctgtg acagctgatt
     2101 gaagatgatg atgaagaacc tctgcattct agttaccctt tgcttccctt cacctcttgt
     2161 aaaatttggc ttggcaacaa tgacattgtc atgcttattg tcccaatatc catcctgtcg
     2221 tagatcttaa tgtttttgat cgttgcgtta aagtggaagt gccacccaca gtgaaaccag
     2281 atcccattaa taaataagct taaaggcaac tgcagtttta attccatagt tattgaatat
     2341 ccagtgtgtg taaggcctgg aggggagcca aaggacacta acttctaaga gctccgtcta
     2401 gttggagaga aacctgtgtg ccacaacata cagtgtcctt gcttatgtgg ggtcgaagac
     2461 atctgtgaaa ataaaagcag cctctgctaa tttagcgcca tctcttttac tgtgctaatt
     2521 tttttttctt tagagacagg gtctcactct gtcgcccagc ctggagggca gtggtgtgat
     2581 cgtagctcac tattacctcc aactcttggg ctcaagtgat cctcccacct cagcctcctg
     2641 agcagctagg actacagata catgccaccg ctcccggcta gtatttttta aaattttttg
     2701 tagagccaag tgttgctatg ttgtccacac tgatctggag cttctaatct caaatgattc
     2761 tcctgcctca gcctcccaaa gtgctgggaa tacaggtgtg agccaccata cctggcctta
     2821 ctgtactaat attaatattg tgtaaatagg ggaaaatacc atggttaatt tttactcaaa
     2881 cagtaagaaa gtttgagtaa ctaattttaa tctcaacagc ccatagctag aagaggggat
     2941 ctaaatgtta agttgaatat ttagaaataa aagtgtctac aagaagaaaa gtctttagtg
     3001 aaaatatggg cataggccag cagcattagc tttctattgc tgcagaacaa attaccacaa
     3061 acttagctgc ttaaaacaac acacacttat tgtctcacaa tgtttgtggg tcggaagtct
     3121 aggcgtggct tagctgggta gtctgtttag gatctcagtg ctggaaaaac gtgtctggcc
     3181 aggtgctcat tgtagctttg acagggaagg gatctgctcc caagcactct caggttgttg
     3241 gcagaatttg tttccttatg gctgtaggat tcatggcaag ttgcttcttc caaaaccagc
     3301 attggagaca gactagcaag atgggcacta cactcttaga taatcaaata aatgcaatca
     3361 tgtgcctcgt gtcacctttt ttgcattcca ttcattaaga acaagttgca gttcctacct
     3421 acactcaagg aagggaggaa ttacacagaa gtgtgaccac aggaggcagg gctcatggag
     3481 gcctccttaa agtcccccag ccaaacctga aaagtcaatc ctggacctta tcatagtggc
     3541 tgtatagttt agaaggtttc ttcagattgg cattcctttg cctcatatca tcacttcaaa
     3601 accctataag ggtttgttcc tcggtcttga ctttgtgtct ttgaggattg ctttgtttag
     3661 tgtcacctgc cttctttcag gaggttttgc ctgacatctg gtggtgaccg tggccaccaa
     3721 gtcaacccaa acactacctt taaggacgac tgcagttctc ttagggtctc ctcaatctaa
     3781 aattgtacct ctttcaggcc aaacacctat tttcttcatt ttttttttct cataagaatg
     3841 ctagctagta tgcctattat ctaactggca cagtttcacc aaggacagtt tggaactaca
     3901 caggccattt tagggagatt ttgacatgaa caagattgct tctttgggag gtaccttaaa
     3961 atgaaaagca aagaaacttc catgcggaga ttgtcttgtt tttctcaaaa tgggataatt
     4021 ttgcttaaca taagtagtat cccttccttc ctttccatac tttgagaatt aataaggact
     4081 agctttttga tcacacagct tgataaaatt ttcaagggtc caaattactg tctaaaccat
     4141 ttgccactct ttgtgtatat ttgtcaaaat ctgcttttct atatcaaaac ttttctctca
     4201 agacctgagg gaattaatta ataaggaatc cttggaacac tggaaattct aaaataagag
     4261 tcagatacaa aacactggtc actaaaattc ttacctttat gtattagaat ggcaatcaat
     4321 gaacaaactg aaaatgtctt tggatattat ttctgtttat tttttgcctc aaaattatta
     4381 aatgacatga aataagtgct caagaagaaa aataaacaat tcttcatttc ctgtt
//
