LOCUS       NM_020191               1205 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens mitochondrial ribosomal protein S22 (MRPS22),
            transcript variant 1, mRNA.
ACCESSION   NM_020191
VERSION     NM_020191.4
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 1205)
  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 1205)
  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 1205)
  AUTHORS   Fasci,D., van Ingen,H., Scheltema,R.A. and Heck,A.J.R.
  TITLE     Histone Interaction Landscapes Visualized by Crosslinking Mass
            Spectrometry in Intact Cell Nuclei
  JOURNAL   Mol Cell Proteomics 17 (10), 2018-2033 (2018)
   PUBMED   30021884
REFERENCE   4  (bases 1 to 1205)
  AUTHORS   Chen,A., Tiosano,D., Guran,T., Baris,H.N., Bayram,Y., Mory,A.,
            Shapiro-Kulnane,L., Hodges,C.A., Akdemir,Z.C., Turan,S.,
            Jhangiani,S.N., van den Akker,F., Hoppel,C.L., Salz,H.K.,
            Lupski,J.R. and Buchner,D.A.
  TITLE     Mutations in the mitochondrial ribosomal protein MRPS22 lead to
            primary ovarian insufficiency
  JOURNAL   Hum Mol Genet 27 (11), 1913-1926 (2018)
   PUBMED   29566152
  REMARK    GeneRIF: Here we report MRPS22 homozygous missense variants
            c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four
            females from two independent consanguineous families as a novel
            genetic cause of Primary ovarian insufficiency in adolescents.
REFERENCE   5  (bases 1 to 1205)
  AUTHORS   Kilic,M., Oguz,K.K., Kilic,E., Yuksel,D., Demirci,H.,
            Sagiroglu,M.S., Yucel-Yilmaz,D. and Ozgul,R.K.
  TITLE     A patient with mitochondrial disorder due to a novel mutation in
            MRPS22
  JOURNAL   Metab Brain Dis 32 (5), 1389-1393 (2017)
   PUBMED   28752220
  REMARK    GeneRIF: hypertrophic cardiomyopathy and tubulopathy may not be
            considered as constant features of MRPS22
REFERENCE   6  (bases 1 to 1205)
  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 1205)
  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 1205)
  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 1205)
  AUTHORS   Crisponi,L., Deiana,M., Loi,A., Chiappe,F., Uda,M., Amati,P.,
            Bisceglia,L., Zelante,L., Nagaraja,R., Porcu,S., Ristaldi,M.S.,
            Marzella,R., Rocchi,M., Nicolino,M., Lienhardt-Roussie,A.,
            Nivelon,A., Verloes,A., Schlessinger,D., Gasparini,P., Bonneau,D.,
            Cao,A. and Pilia,G.
  TITLE     The putative forkhead transcription factor FOXL2 is mutated in
            blepharophimosis/ptosis/epicanthus inversus syndrome
  JOURNAL   Nat Genet 27 (2), 159-166 (2001)
   PUBMED   11175783
REFERENCE   10 (bases 1 to 1205)
  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 AC024933.34.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 29, 2019 this sequence version replaced NM_020191.3.
            
            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 28S subunit protein that does not
            seem to have a counterpart in prokaryotic and fungal-mitochondrial
            ribosomes. This gene lies telomeric of and is transcribed in the
            opposite direction from the forkhead box L2 gene. A pseudogene
            corresponding to this gene is found on chromosome Xq. [provided by
            RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AF226045.1, BC009296.2 [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                 :: ENST00000680020.1/
                                                  ENSP00000505414.1
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression,
                                                  longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-179               AC024933.34        88486-88664
            180-346             AC024933.34        91344-91510
            347-511             AC024933.34        92626-92790
            512-655             AC024933.34        94645-94788
            656-739             AC024933.34        95443-95526
            740-885             AC024933.34        97113-97258
            886-994             AC024933.34        100148-100256
            995-1205            AC024933.34        101385-101595
FEATURES             Location/Qualifiers
     source          1..1205
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q23"
     gene            1..1205
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /note="mitochondrial ribosomal protein S22"
                     /db_xref="GeneID:56945"
                     /db_xref="HGNC:HGNC:14508"
                     /db_xref="MIM:605810"
     exon            1..179
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     CDS             8..1090
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /note="isoform 1 is encoded by transcript variant 1; 28S
                     ribosomal protein S22, mitochondrial; S22mt; mitochondrial
                     small ribosomal subunit protein mS22"
                     /codon_start=1
                     /product="small ribosomal subunit protein mS22 isoform 1"
                     /protein_id="NP_064576.1"
                     /db_xref="CCDS:CCDS3107.1"
                     /db_xref="GeneID:56945"
                     /db_xref="HGNC:HGNC:14508"
                     /db_xref="MIM:605810"
                     /translation="MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSF
                     EMGLPRRRFSSEAAESGSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPT
                     YKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTD
                     ISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTM
                     YSQDRHVDVLNLCFAQFEPDSTEYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFV
                     NNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQAAEGINLIKVFAKT
                     EAQKGAYIELTLQTYQEALSRHSAAS"
     exon            180..346
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     exon            347..511
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     exon            512..655
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     exon            656..739
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     exon            740..885
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     exon            886..994
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     exon            995..1205
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1103..1108
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /note="hexamer: AATACA"
     polyA_site      1122
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /note="major polyA site"
     regulatory      1175..1180
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
                     /note="hexamer: ATTAAA"
     polyA_site      1205
                     /gene="MRPS22"
                     /gene_synonym="C3orf5; COXPD5; GIBT; GK002; MRP-S22; mS22;
                     ODG7; RPMS22"
ORIGIN      
        1 gataatcatg gcgcccctcg gaacaactgt attgctgtgg agcctcttga ggagttctcc
       61 gggcgtggaa cgggtctgtt tccgggctcg aatccagccc tggcacggtg gcctgctcca
      121 accgctacct tgctctttcg agatggggct gccacgccgc cggttcagct ccgaggccgc
      181 agaatctggt agcccagaga ccaagaaacc tacatttatg gatgaggaag ttcaaagcat
      241 actcacgaaa atgacaggct tgaacttgca gaagactttt aagccagcta tacaagaact
      301 gaagccacca acctataagc taatgactca ggcacagttg gaagaggcta caagacaggc
      361 agttgaggca gctaaagtac gattaaaaat gccaccagtt ctggaagagc gagtaccaat
      421 aaatgatgtg ttagctgaag ataagatttt ggaaggaaca gaaacaacca aatatgtgtt
      481 tactgatata tcatatagca taccacaccg ggagcgtttt attgtcgtca gagaaccaag
      541 tggcacacta cgcaaagcct cttgggaaga acgggaccga atgatacaag tttatttccc
      601 aaaagaaggt cgtaaaattt tgacaccaat aattttcaag gaagaaaatc ttaggactat
      661 gtatagccag gacaggcatg ttgatgtcct caatctctgc tttgcccagt ttgagccaga
      721 ttccacagag tatatcaagg ttcatcacaa gacctatgaa gatatagata aacgtggaaa
      781 atatgacctt ttacgttcaa caagatactt tggtggaatg gtgtggtatt ttgtaaataa
      841 taaaaagatt gatggtttgc tgattgacca gattcagaga gatttaatcg atgatgcaac
      901 caacttggtc cagctgtatc acgtgctcca tccagatggc cagtcggctc aaggggccaa
      961 ggatcaggct gctgagggaa taaatttaat caaggtcttt gcaaaaacag aagcacagaa
     1021 gggagcctat atagaactaa cactgcagac ttatcaagaa gcactcagtc gccattctgc
     1081 agcttcctaa aaatatttta aaaatacatt tattttacta aatactgact acatttctct
     1141 gttaatattg agctaaatgt taaaaaatgg ccagattaaa agatatcaat ttgtagttct
     1201 cccta
//
