LOCUS       NM_022497               4572 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein S25 (MRPS25),
            transcript variant 1, mRNA.
ACCESSION   NM_022497
VERSION     NM_022497.5
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 4572)
  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 4572)
  AUTHORS   Bugiardini,E., Mitchell,A.L., Rosa,I.D., Horning-Do,H.T.,
            Pitmann,A.M., Poole,O.V., Holton,J.L., Shah,S., Woodward,C.,
            Hargreaves,I., Quinlivan,R., Amunts,A., Wiesner,R.J., Houlden,H.,
            Holt,I.J., Hanna,M.G., Pitceathly,R.D.S. and Spinazzola,A.
  TITLE     MRPS25 mutations impair mitochondrial translation and cause
            encephalomyopathy
  JOURNAL   Hum Mol Genet 28 (16), 2711-2719 (2019)
   PUBMED   31039582
  REMARK    GeneRIF: our data demonstrate the pathogenicity of the p.P72L
            variant and identify MRPS25 mutations as a new cause of
            mitochondrial translation defect.
REFERENCE   3  (bases 1 to 4572)
  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 4572)
  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   5  (bases 1 to 4572)
  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   6  (bases 1 to 4572)
  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   7  (bases 1 to 4572)
  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   8  (bases 1 to 4572)
  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
REFERENCE   9  (bases 1 to 4572)
  AUTHORS   Hattori,A., Okumura,K., Nagase,T., Kikuno,R., Hirosawa,M. and
            Ohara,O.
  TITLE     Characterization of long cDNA clones from human adult spleen
  JOURNAL   DNA Res 7 (6), 357-366 (2000)
   PUBMED   11214971
REFERENCE   10 (bases 1 to 4572)
  AUTHORS   Koc,E.C., Burkhart,W., Blackburn,K., Moseley,A., Koc,H. and
            Spremulli,L.L.
  TITLE     A proteomics approach to the identification of mammalian
            mitochondrial small subunit ribosomal proteins
  JOURNAL   J Biol Chem 275 (42), 32585-32591 (2000)
   PUBMED   10938081
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA729310.1, BC003590.2,
            AK024433.1 and AI288348.1.
            
            On Nov 23, 2018 this sequence version replaced NM_022497.4.
            
            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 28S subunit protein. A pseudogene
            corresponding to this gene is found on chromosome 4. Alternative
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the supported 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 :: SRR1660809.204630.1,
                                           SRR1803614.269713.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2151119, SAMEA2156266
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000253686.7/
                                                  ENSP00000253686.2
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-28                DA729310.1         23-50
            29-2244             BC003590.2         1-2216
            2245-4566           AK024433.1         2182-4503
            4567-4572           AI288348.1         9-14                c
FEATURES             Location/Qualifiers
     source          1..4572
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.1"
     gene            1..4572
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="mitochondrial ribosomal protein S25"
                     /db_xref="GeneID:64432"
                     /db_xref="HGNC:HGNC:14511"
                     /db_xref="MIM:611987"
     exon            1..255
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..643
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /EC_number="3.6.5.3"
                     /note="mitochondrial 28S ribosomal protein S25; 28S
                     ribosomal protein S25, mitochondrial; S25mt; mitochondrial
                     small ribosomal subunit protein mS25"
                     /codon_start=1
                     /product="small ribosomal subunit protein mS25"
                     /protein_id="NP_071942.1"
                     /db_xref="CCDS:CCDS2622.1"
                     /db_xref="GeneID:64432"
                     /db_xref="HGNC:HGNC:14511"
                     /db_xref="MIM:611987"
                     /translation="MPMKGRFPIRRTLQYLSQGNVVFKDSVKVMTVNYNTHGELGEGA
                     RKFVFFNIPQIQYKNPWVQIMMFKNMTPSPFLRFYLDSGEQVLVDVETKSNKEIMEHI
                     RKILGKNEETLREEEEEKKQLSHPANFGPRKYCLRECICEVEGQVPCPSLVPLPKEMR
                     GKYKAALKADAQD"
     exon            256..362
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /inference="alignment:Splign:2.1.0"
     exon            363..450
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /inference="alignment:Splign:2.1.0"
     exon            451..4572
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /inference="alignment:Splign:2.1.0"
     regulatory      855..860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="hexamer: AATAAA"
     polyA_site      876
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="major polyA site"
     regulatory      2218..2223
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="hexamer: ATTAAA"
     polyA_site      2245
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
     regulatory      3389..3394
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="hexamer: AATGAA"
     polyA_site      3413
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
     regulatory      4522..4527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="hexamer: ATTAAA"
     regulatory      4547..4552
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
                     /note="hexamer: AATAAA"
     polyA_site      4548
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
     polyA_site      4572
                     /gene="MRPS25"
                     /gene_synonym="COXPD50; MRP-S25; mS25; RPMS25"
ORIGIN      
        1 gcgggaagtg gaacctggct ctggggagaa gccgcgtgag atccgcgcgg gtgctagcta
       61 gtcctttctc gtcgctgctc ggctcgcggc ccgtggggtc ggccccgcca ccgttgccgc
      121 catgcccatg aagggccgct tccccatccg ccgcaccctg caatatctga gccaggggaa
      181 cgtggtgttc aaggactccg tgaaggtcat gacagtgaat tacaacacgc atggggagct
      241 gggcgagggc gccaggaagt ttgtgttttt caacatacct cagattcaat acaaaaaccc
      301 ttgggtgcag atcatgatgt ttaagaacat gacgccgtca cccttcctgc gattctactt
      361 agattctggg gagcaggtcc tggtggatgt ggagaccaag agcaataagg agatcatgga
      421 gcacatcaga aaaatcttgg ggaagaatga ggaaaccctc agggaagagg aggaggagaa
      481 aaagcagctt tctcacccag ccaacttcgg ccctcgaaag tactgcctgc gggagtgcat
      541 ctgtgaagtg gaagggcagg tgccctgccc cagcctggtg ccattaccca aggagatgag
      601 ggggaagtac aaagccgctc tgaaagccga tgcccaggac taaggcccac ggtcactgtg
      661 ggctggggtg atggtgtctg accagtgggg agattggaat gggattactt tggcccaggg
      721 aagcccctgg ttctgtccct ggagactctg gaaatccttt tgcattaaaa ggactttaca
      781 cacctgtgta aaaggatgtg ggagaggagg gtctgaagct gagctgctaa atgaatatcc
      841 ctgctctgct ggtcaataaa acgcttccta atagcagctt ggcgtgtatc tggtcctagt
      901 gaagaggaag gcctgtgtag cagaaaggct ttgggcctga gaggttaagg ccacagcctg
      961 ttgacacctg ttttggtcct gcgacccttt actggtctcc gctggctttg aatcttcctc
     1021 tgggctctac tctggagaac ataagggctg ctgtggttga gtctggctag cactgtctgt
     1081 ggttggcagt gtgtacaccc ctccgttcag ttccttgggg gtatttttca gaaatccaaa
     1141 ggcaaccctt cgtgcagtgc tcactttttt aagtacagtt gattaccctt gcctgctggg
     1201 gggcctagcc atgggccaga gatggaggag ccccagtggc tgacaggcca gcctcactca
     1261 ggcacgtacc tgctgaccag tcagccactg ccaacccatg gcccagccac tgtgtgcatt
     1321 agcagggagg tttgtaggcc atggaggaaa tgaggagaca ccacctagtg gagacattgg
     1381 ggccctgctg gggggatggt gtctatagct ggctctgctg gctccctcag gccctgctta
     1441 ccaagctctg gaggagggag tgctgcatta ctgagcacct tccttgttct ttcctcatag
     1501 gacactgatg ttactgtcac tttagttatg ctaaagtgga ggtttcagcc tccagaagac
     1561 agcagagcct tctagggtca ccttaagaat aggtttagct aggctgggtg tggtggctca
     1621 tgcctgtaat cccagcactt tgggaggctg atgtgggcgg atagttgagc ccaggagttc
     1681 gagaccagcc tgggcaacat ggcaagacct tgtctctaca aaaagtacaa aaattagatg
     1741 ggtgtggtgt ttcgcgtctg tagtcccagc tatttgggaa gctgaggtgg gaggatctcg
     1801 agcctgcgag atcaaggctg cagtgaatca tgatcgtgcg ctactgcact ccagcctggg
     1861 ccacagagca agactgtctc aagaaaaaaa attttttaaa taagtttaat tataaagtga
     1921 aggaccagtt ggaccacgga cccctagaaa ctcagccaag gagacctgac tttatctgag
     1981 acaggaaggc agtggttaaa agaattaaaa aaggacagtg gtgcttgaca gagcaggact
     2041 gaagttttca ttcctctacc tgctggggcc ttggtcaagt cctaaaagct ttccaggtct
     2101 gtaactggtt ttgtctgtaa aatggggaaa aggttacctt ttctgccaca tgaagtagct
     2161 ggctggtgaa atgatgtcat actacgatgt gtttcattaa ctgttggaga ttatcacatt
     2221 aaattgagca gatttggatc ttttacattt gatgctcaag tttgattctg taccagatct
     2281 gggtttgggg tgatggcttg tcgggggtgg gaggggaagg tgggcagaga ctgatgtata
     2341 atggacaggt gttccttgag tgacagactt acaaagggag tgtttaattg aaatctagca
     2401 tcttgtctct ctgctatcag cattttggct gggtggaaaa agctctcctc cacagagagc
     2461 cctcccatgt ctgctggttt cagttcccca cccaactgac tgaagtcttg accttgatac
     2521 cacctgcctg ggcgttctac ttggctgcaa gggctcttca gaaagcacct agttcctttt
     2581 ggctttcatc tgcagtgtag gtctccatag ctagtgacac acaaagcctt atgagagtat
     2641 tccttccctc tagggcccaa agaggctgct aaccagcagg aatgtcctga accaaaagga
     2701 gtggtgacca ttctctagac agaataaatg tctggtccct aatgggacag ataactaggg
     2761 tttgagttca ggcttgacac aggagcaatg ggcagtgagg tggacagccc agaccctgaa
     2821 aggacgtgtg gagacagcag cagtcctgtg gtgcagttac tgcctgtgtg gccagcttca
     2881 caggcagcag ataatttgtg gaaataaaca ttattttctt tttttgttcc ctgtaggcta
     2941 cttgatcctg gatagtttct ctttaaacct ttgtctttcc ctattttgtt tagtagtgat
     3001 gaaagatggg tttaaaatat acagaaatgg gagaaaatta attagagaaa atgtgaggat
     3061 tttataattg ataacatgtt cttaatttta cttgcacaag cagtgttcac agccttattc
     3121 tgaagtgacc acttttcttc tctttgaggc actacctggc agcaccatct aaacctgtat
     3181 catctgctgt ggtcccagtt actcaggagg ctgaggcagg aggatcactt gagcccagga
     3241 ggttgaggct ggagtgagcc atgactgtac cactgcattc cagcctgggt gacggagtga
     3301 ggccctatct gcctgccagt gagttctgtc atgcatcaga ctttggacct cagaattttc
     3361 acctggaaca tgagaggtca gatgacataa tgaatatgtt ctaacttctg aaacttttgg
     3421 agcttgtttt tgcccttgat agcacgtatc cttagagaat aagcttgcca atttaaggcc
     3481 tgtctgtaat ggcatctgaa tgttccagca gcctaactgt gctctgctcc agaaacatgt
     3541 gtgtggcttc cctacctcca caccaaggag ctgccttgct gggtggatgt aaagactgtc
     3601 ctgccagggt ttcccactaa aggtattaat aagtccagtg gaccacagag ggcccaatcc
     3661 ctcttggccg ctaaggctaa ggtaggagcc agagagctgt agagacagga ccaccaggat
     3721 gcttcatgtc cataacacaa gagagcgctg cattgtttgg gggccaggca ttactactat
     3781 catgaagaaa aatgaagagc aggatgcatg ttagtcttta attcactttt aatagtataa
     3841 acctcattta ggtagtagta ttaagccaca acaataatgc cacattgaaa cagcatttaa
     3901 taaaatgcat aaagctaatt catgcactgc aatactctat atacaaacac aacaatgcaa
     3961 attcttcttc aagactgaag acattgatta gatataaaat tcagtttaaa aagaacatgc
     4021 tattttttaa atgccatcac ataaacaaag tgatttcaca gggagaagaa agctgtataa
     4081 agctgcagct ttcaacaggt tttaaacctg gcattaaaat gtaatggcaa aaccaatatt
     4141 ttctatattg tgaagggcaa aggttacaga aacggtccca agaaaatcta acacccaaat
     4201 tttcctttga tagatagatg cctttaaaag ggctggtaat gcagttacat tctaacagag
     4261 aagtccaaac tacaggtaaa aactacggct tgtactgtga aaaatgtgca gcttttcagt
     4321 tataaaacta gttgaacact ggtttacaag ataatccgta gaacagagag actgtagaaa
     4381 aatattccag cacttgagtt gtgtgtggca gcagcatttg agtccatgaa tgctatggtc
     4441 attaaaataa ttgattatac tttcctaaag aaaagccatt ttttaatgca aagtctacta
     4501 cttccaaatg ttattccaaa cattaaattt taacagtcta tcaatcaata aatgttgaac
     4561 attttttttc ta
//
