LOCUS       NM_031947               1415 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 2 (SLC25A2), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_031947
VERSION     NM_031947.4
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 1415)
  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 1415)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 1415)
  AUTHORS   Porcelli,V., Longo,A., Palmieri,L., Closs,E.I. and Palmieri,F.
  TITLE     Asymmetric dimethylarginine is transported by the mitochondrial
            carrier SLC25A2
  JOURNAL   Amino Acids 48 (2), 427-436 (2016)
   PUBMED   26403849
REFERENCE   4  (bases 1 to 1415)
  AUTHORS   Palmieri,F.
  TITLE     The mitochondrial transporter family SLC25: identification,
            properties and physiopathology
  JOURNAL   Mol Aspects Med 34 (2-3), 465-484 (2013)
   PUBMED   23266187
  REMARK    GeneRIF: Compares and contrasts all the known human SLC25A* genes
            and includes functional information.
            Review article
REFERENCE   5  (bases 1 to 1415)
  AUTHORS   Monne,M., Miniero,D.V., Daddabbo,L., Robinson,A.J., Kunji,E.R. and
            Palmieri,F.
  TITLE     Substrate specificity of the two mitochondrial ornithine carriers
            can be swapped by single mutation in substrate binding site
  JOURNAL   J Biol Chem 287 (11), 7925-7934 (2012)
   PUBMED   22262851
  REMARK    GeneRIF: characterized mutations of the proposed substrate binding
            site in ORC1 and ORC2; demonstrated that the residue at position
            179 in the 2 soforms is largely responsible for the difference in
            their substrate specificity;concluded that Arg-179 is a key residue
            in the opening of the carrier to the matrix side
REFERENCE   6  (bases 1 to 1415)
  AUTHORS   Fiermonte,G., Dolce,V., David,L., Santorelli,F.M., Dionisi-Vici,C.,
            Palmieri,F. and Walker,J.E.
  TITLE     The mitochondrial ornithine transporter. Bacterial expression,
            reconstitution, functional characterization, and tissue
            distribution of two human isoforms
  JOURNAL   J Biol Chem 278 (35), 32778-32783 (2003)
   PUBMED   12807890
  REMARK    GeneRIF: expression, reconstitution, functional characterization,
            and tissue distribution of two human isoforms ORC1 and ORC2
REFERENCE   7  (bases 1 to 1415)
  AUTHORS   Camacho,J.A., Rioseco-Camacho,N., Andrade,D., Porter,J. and Kong,J.
  TITLE     Cloning and characterization of human ORNT2: a second mitochondrial
            ornithine transporter that can rescue a defective ORNT1 in patients
            with the hyperornithinemia-hyperammonemia-homocitrullinuria
            syndrome, a urea cycle disorder
  JOURNAL   Mol Genet Metab 79 (4), 257-271 (2003)
   PUBMED   12948741
  REMARK    GeneRIF: Here we identify a new intronless gene, ORNT2, located on
            chromosome 5.
REFERENCE   8  (bases 1 to 1415)
  AUTHORS   Wu,Q., Zhang,T., Cheng,J.F., Kim,Y., Grimwood,J., Schmutz,J.,
            Dickson,M., Noonan,J.P., Zhang,M.Q., Myers,R.M. and Maniatis,T.
  TITLE     Comparative DNA sequence analysis of mouse and human protocadherin
            gene clusters
  JOURNAL   Genome Res 11 (3), 389-404 (2001)
   PUBMED   11230163
REFERENCE   9  (bases 1 to 1415)
  AUTHORS   Porter,R.K.
  TITLE     Mammalian mitochondrial inner membrane cationic and neutral amino
            acid carriers
  JOURNAL   Biochim Biophys Acta 1459 (2-3), 356-362 (2000)
   PUBMED   11004451
  REMARK    Review article
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from HY048558.1, BC100935.2 and
            AF332005.1.
            
            On May 17, 2019 this sequence version replaced NM_031947.3.
            
            Summary: This intronless gene encodes a protein that localizes to
            the mitochondrial inner membrane and likely functions as a
            transporter of small molecules such as ornithine. This gene is
            located between the protocadherin beta and gamma gene clusters on
            chromosome 5. [provided by RefSeq, Dec 2014].
            
            ##Evidence-Data-START##
            Transcript is intronless :: SRR5189667.155397.1, AF378119.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000239451.7/
                                                  ENSP00000239451.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-184               HY048558.1         15-198
            185-1140            BC100935.2         1-956
            1141-1415           AF332005.1         957-1231
FEATURES             Location/Qualifiers
     source          1..1415
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.3"
     gene            1..1415
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="solute carrier family 25 member 2"
                     /db_xref="GeneID:83884"
                     /db_xref="HGNC:HGNC:22921"
                     /db_xref="MIM:608157"
     exon            1..1415
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             185..1090
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="solute carrier family 25 (mitochondrial carrier;
                     ornithine transporter) member 2"
                     /codon_start=1
                     /product="mitochondrial ornithine transporter 2"
                     /protein_id="NP_114153.1"
                     /db_xref="CCDS:CCDS4258.1"
                     /db_xref="GeneID:83884"
                     /db_xref="HGNC:HGNC:22921"
                     /db_xref="MIM:608157"
                     /translation="MKSGPGIQAAIDLTAGAAGGTACVLTGQPFDTIKVKMQTFPDLY
                     KGLTDCFLKTYAQVGLRGFYKGTGPALMAYVAENSVLFMCYGFCQQFVRKVAGMDKQA
                     KLSDLQTAAAGSFASAFAALALCPTELVKCRLQTMYEMEMSGKIAKSHNTIWSVVKGI
                     LKKDGPLGFYHGLSSTLLQEVPGYFFFFGGYELSRSFFASGRSKDELGPVHLMLSGGV
                     AGICLWLVVFPVDCIKSRIQVLSMYGKQAGFIGTLLSVVRNEGIVALYSGLKATMIRA
                     IPANGALFVAYEYSRKMMMKQLEAY"
     regulatory      1396..1401
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="hexamer: CATAAA"
     polyA_site      1415
                     /gene="SLC25A2"
                     /gene_synonym="ORC2; ORNT2"
                     /note="major polyA site"
ORIGIN      
        1 gcggcggagc gtagggttga gcggcttccc ccgcactggg gtgagagccc agaacaggcg
       61 gtagagccac cccaccaccc ccaactccat tccccgcgct cgctgcggct ggacgtgaaa
      121 agccggtctc acgctctggg gagttagtcg ccttccactg ggaccctcag acgagtgagc
      181 gaacatgaag tccggtcctg gcatccaagc cgccatcgac ctcacagcgg gggccgcagg
      241 ggggacagcg tgtgtactga ctgggcagcc cttcgacaca ataaaagtga agatgcagac
      301 gttccctgac ctgtacaagg gcctcaccga ctgcttcctg aagacatacg ctcaagtggg
      361 tctccggggc ttctacaagg gcaccggccc ggcacttatg gcctacgtcg ccgaaaactc
      421 ggtcctcttc atgtgctacg ggttctgcca gcagtttgtc aggaaagtgg ctggaatgga
      481 caagcaggca aagctgagtg atctccagac tgcagccgcg gggtccttcg cctctgcatt
      541 tgctgcactg gctctctgcc ccactgagct tgtgaagtgc cggctacaga ccatgtatga
      601 aatggagatg tcagggaaga tagcaaaaag ccataataca atttggtctg tcgtgaaggg
      661 tatccttaaa aaggatggcc ccttgggctt ctaccatgga ctctcgagta ctctacttca
      721 agaagtaccg ggttatttct ttttctttgg tggctatgaa ctgagccgat cgttttttgc
      781 gtcagggaga tcaaaagatg aactaggccc tgtccatttg atgttaagtg gtggagttgc
      841 tggaatttgc ctgtggcttg tcgtgttccc agtggattgt attaaatcca gaattcaagt
      901 tctttccatg tatgggaaac aggcaggatt tattggtacc ctcttaagtg ttgtgagaaa
      961 tgaaggaata gtagccttat attctggact gaaagctact atgattcgag caatccctgc
     1021 caatggggca ctgtttgtgg cctacgaata cagcaggaag atgatgatga aacagttgga
     1081 agcatactga agtgtcttgg tgaacctgga tccgagtcca tgagtttgag gactacagtt
     1141 catcacaggg ttcagcagag tacaagacca ctgtctaatt ttgacttcat gggaattttg
     1201 gttttatctt cccttcttct accctaaatc ttaactttat ggaagggcct ctattttaca
     1261 tcatataatt tctgcccata attgtattga aataggaaag ttgctgctct tgcacttgct
     1321 ggaatgtaca gggtgggctg gttggcccta tgtacctaat ctgaaaaact aaatatcgtt
     1381 ctgtcagggc ctttgcataa agccatttgt gtgta
//
