LOCUS       NM_014252               3821 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 15 (SLC25A15), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_014252
VERSION     NM_014252.4
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 3821)
  AUTHORS   Zhang,Q., Wei,T., Jin,W., Yan,L., Shi,L., Zhu,S., Bai,Y., Zeng,Y.,
            Yin,Z., Yang,J., Zhang,W., Wu,M., Zhang,Y., Peng,G., Roessler,S.
            and Liu,L.
  TITLE     Deficiency in SLC25A15, a hypoxia-responsive gene, promotes
            hepatocellular carcinoma by reprogramming glutamine metabolism
  JOURNAL   J Hepatol 80 (2), 293-308 (2024)
   PUBMED   38450598
  REMARK    GeneRIF: Deficiency in SLC25A15, a hypoxia-responsive gene,
            promotes hepatocellular carcinoma by reprogramming glutamine
            metabolism.
REFERENCE   2  (bases 1 to 3821)
  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   3  (bases 1 to 3821)
  AUTHORS   Giangregorio,N., Tonazzi,A., Console,L., Galluccio,M., Porcelli,V.
            and Indiveri,C.
  TITLE     Structure/function relationships of the human mitochondrial
            ornithine/citrulline carrier by Cys site-directed mutagenesis.
            Relevance to mercury toxicity
  JOURNAL   Int J Biol Macromol 120 (Pt A), 93-99 (2018)
   PUBMED   30121301
  REMARK    GeneRIF: Structure/function relationships of the human
            mitochondrial ornithine/citrulline carrier by Cys site-directed
            mutagenesis. Relevance to mercury toxicity.
REFERENCE   4  (bases 1 to 3821)
  AUTHORS   Ji,S.M.
  TITLE     Overexpression of SLC25A15 is involved in the proliferation of
            cutaneous melanoma and leads to poor prognosis
  JOURNAL   Med Sci (Paris) 34 Focus issue F1, 74-80 (2018)
   PUBMED   30403179
  REMARK    GeneRIF: Overexpression of SLC25A15 is involved in the progression
            of melanoma and may predict the prognosis of melanoma.
REFERENCE   5  (bases 1 to 3821)
  AUTHORS   Yamazaki,K., Umeno,J., Takahashi,A., Hirano,A., Johnson,T.A.,
            Kumasaka,N., Morizono,T., Hosono,N., Kawaguchi,T., Takazoe,M.,
            Yamada,T., Suzuki,Y., Tanaka,H., Motoya,S., Hosokawa,M.,
            Arimura,Y., Shinomura,Y., Matsui,T., Matsumoto,T., Iida,M.,
            Tsunoda,T., Nakamura,Y., Kamatani,N. and Kubo,M.
  TITLE     A genome-wide association study identifies 2 susceptibility Loci
            for Crohn's disease in a Japanese population
  JOURNAL   Gastroenterology 144 (4), 781-788 (2013)
   PUBMED   23266558
REFERENCE   6  (bases 1 to 3821)
  AUTHORS   Salvi,S., Santorelli,F.M., Bertini,E., Boldrini,R., Meli,C.,
            Donati,A., Burlina,A.B., Rizzo,C., Di Capua,M., Fariello,G. and
            Dionisi-Vici,C.
  TITLE     Clinical and molecular findings in
            hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
  JOURNAL   Neurology 57 (5), 911-914 (2001)
   PUBMED   11552031
REFERENCE   7  (bases 1 to 3821)
  AUTHORS   Miyamoto,T., Kanazawa,N., Kato,S., Kawakami,M., Inoue,Y.,
            Kuhara,T., Inoue,T., Takeshita,K. and Tsujino,S.
  TITLE     Diagnosis of Japanese patients with HHH syndrome by molecular
            genetic analysis: a common mutation, R179X
  JOURNAL   J Hum Genet 46 (5), 260-262 (2001)
   PUBMED   11355015
REFERENCE   8  (bases 1 to 3821)
  AUTHORS   Tsujino,S., Kanazawa,N., Ohashi,T., Eto,Y., Saito,T., Kira,J. and
            Yamada,T.
  TITLE     Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of
            Japanese patients with hyperornithinemia, hyperammonemia, and
            homocitrullinuria syndrome
  JOURNAL   Ann Neurol 47 (5), 625-631 (2000)
   PUBMED   10805333
REFERENCE   9  (bases 1 to 3821)
  AUTHORS   Camacho,J.A., Obie,C., Biery,B., Goodman,B.K., Hu,C.A.,
            Almashanu,S., Steel,G., Casey,R., Lambert,M., Mitchell,G.A. and
            Valle,D.
  TITLE     Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is
            caused by mutations in a gene encoding a mitochondrial ornithine
            transporter
  JOURNAL   Nat Genet 22 (2), 151-158 (1999)
   PUBMED   10369256
REFERENCE   10 (bases 1 to 3821)
  AUTHORS   Camacho,J. and Rioseco-Camacho,N.
  TITLE     Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22649802
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC002702.2, BU726339.1,
            AL161614.16 and AA948095.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014252.3.
            
            Summary: This gene is a member of the mitochondrial carrier family.
            The encoded protein transports ornithine across the inner
            mitochondrial membrane from the cytosol to the mitochondrial
            matrix. The protein is an essential component of the urea cycle,
            and functions in ammonium detoxification and biosynthesis of the
            amino acid arginine. Mutations in this gene result in
            hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
            There is a pseudogene of this locus on the Y chromosome.[provided
            by RefSeq, May 2009].
            
            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.
            
            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 :: SRR1803611.47961.1,
                                           SRR1660809.54698.1 [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                 :: ENST00000338625.9/
                                                  ENSP00000342267.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-881               BC002702.2         115-995
            882-1188            BU726339.1         18-324              c
            1189-3632           AL161614.16        55243-57686
            3633-3821           AA948095.1         18-206              c
FEATURES             Location/Qualifiers
     source          1..3821
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q14.11"
     gene            1..3821
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /note="solute carrier family 25 member 15"
                     /db_xref="GeneID:10166"
                     /db_xref="HGNC:HGNC:10985"
                     /db_xref="MIM:603861"
     exon            1..53
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     exon            54..177
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     CDS             123..1028
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /note="ornithine transporter 1; solute carrier family 25
                     (mitochondrial carrier; ornithine transporter) member 15;
                     ornithine carrier 1;
                     hyperammonemia-hyperornithinemia-homocitrullinuria
                     syndrome"
                     /codon_start=1
                     /product="mitochondrial ornithine transporter 1"
                     /protein_id="NP_055067.1"
                     /db_xref="CCDS:CCDS9373.1"
                     /db_xref="GeneID:10166"
                     /db_xref="HGNC:HGNC:10985"
                     /db_xref="MIM:603861"
                     /translation="MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLY
                     RGLTDCCLKTYSQVGFRGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQA
                     KLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSI
                     LRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGV
                     GGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRA
                     FPANGALFLAYEYSRKLMMNQLEAY"
     exon            178..436
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     exon            437..574
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     exon            575..744
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     exon            745..903
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     exon            904..3821
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3802..3807
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /note="hexamer: ATTAAA"
     polyA_site      3821
                     /gene="SLC25A15"
                     /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1"
                     /note="major polyA site"
ORIGIN      
        1 agccgagagc gggcggcgga gcctgagctg gacgcggcca cgccggcgcg gcgggatatg
       61 tggtgcctgt cataagctcc agagagctgc cttccacaag accagcagaa gagtgggcaa
      121 acatgaaatc caatcctgct atccaggctg ccattgacct cacagcgggg gctgcaggag
      181 gtacagcatg tgtactgacc gggcagccct ttgacacaat gaaagtgaag atgcagacgt
      241 tccctgacct gtaccggggc ctcaccgact gctgcctgaa gacttactcc caggtgggct
      301 tccgtggctt ctacaagggt accagtccag cactaatcgc caacatcgct gagaactcag
      361 tcctcttcat gtgctacggc ttctgccagc aggtggtgcg gaaagtggct ggattggaca
      421 agcaggcaaa gctgagtgat ctgcagaatg cagccgccgg ttccttcgcc tctgcctttg
      481 ctgcactggt gctctgcccc acggagctcg tgaagtgccg gctgcagacc atgtatgaga
      541 tggagacatc agggaagata gccaagagcc agaatacagt gtggtctgtc atcaaaagta
      601 ttcttaggaa agatggcccc ttggggttct accatggact ctcaagcact ttacttcgag
      661 aagtaccagg ctatttcttc ttcttcggtg gctatgaact gagccggtcc ttttttgcat
      721 cagggagatc aaaagatgaa ttaggccctg tacctttgat gttaagtggt ggagttggtg
      781 ggatttgcct ctggcttgcg gtatacccag tggattgtat caaatccaga attcaagttc
      841 tttccatgtc tggaaaacag gcaggattta tcagaacctt tataaatgtt gtgaaaaatg
      901 aaggaataac ggccttatat tctggactga aacctactat gattcgagca ttccctgcca
      961 atggagcact ctttttggcc tacgaatata gcaggaagtt gatgatgaac cagttggaag
     1021 catactgaag tgtcttggtg ggcctgagcc aagcacaggt gtttgaggac tacagttcat
     1081 ctcagggttt cttggagtac aagaccagtg tgaagttatt ctgatttctt gggaattttg
     1141 ctttttgtct tcccttctac cctacatctt aaactttatg gaagaacctc tattttgcat
     1201 catatcattt ctgtccataa ttgtactgaa atagaaaagt gaccgctctt gctcttggta
     1261 aaatatagag tggtcagtag ccttatgcac ctaattcaaa aggtggaata tagttctgtc
     1321 agggctttta cgtaaacctc cacttgtaca tgcaatttgg acagttatgt gttgagggaa
     1381 atacagtttg gtaccttgtt tatttcaaat atcagaaaaa cccagaggtg atcatttctc
     1441 atgaagatgc ttataaatgg ttgcttaacc cattctagat gtagggtctg cttaatgtgt
     1501 gtacttttct aagtggttga ttatttttta tttttttgat acagagtctc actctgtcac
     1561 ccagactgga gtgcagtggc acgatctcgg ctcactgcaa cctccgcctc ctgggttcaa
     1621 gcgattctct cacctcagcc tcctgagtag ctgggattac aggtacgcgc caccatgtcc
     1681 agctaatttt ttttggtatt ttttgtagag acgaggtttc accatgttgt ccaggttggt
     1741 ctcgaactcc tgacctcaag tgatccgccc acctcggcct cccaaagtgc tgggattact
     1801 ggtgtgagcc accatgccca gccagtggtt gaatttttta aaaagtgttc atggggtgct
     1861 tgaaaactaa aatatccttc tagatttgta agacagtata cctgcatact ggtgtggctt
     1921 ccacacttga gtaaaagctt cagagtaggt atcctagatt tccccaagat gctctactct
     1981 taaaatagtg ccattcattt tctaggtggg atcatattcc acgctgacta tattgctagg
     2041 ggtggcccag agggtcaggc ctttgggaaa tagcatggcc tttaccagct tcccttctct
     2101 cccaaagaac ttcccttctt gggctttaga ttgaggaagg ggctgagtgg taggcggtgc
     2161 tgctgtgctc tgatgaagac ccatgtggct agcaacagcg cttacctttt gtctctgggt
     2221 cctggcctgg ggccatcaat ccactttggg ccactcactg tctgctctgc ctccaccaat
     2281 cagaaaccct tccaaggaac agtgagagcc aaagccaaga gaagccttct tccctgtttg
     2341 gtgattgtgt gacagtgggt gaacctctct cagagagaac tagaaagaac tcagtgcttg
     2401 tactccacag tgagtaatgt caggtctgac ccatcctgaa gcctgtcttg ccatgctttt
     2461 acagtgttgg aggcttctac atttggtact tgcagtcagt aagtcttaat gatgactgta
     2521 tatgtgatat gagtttataa agcaatggaa cataagaaaa gcaattgtag gccaggcgca
     2581 gtggctcacg cctataatcc cagcactttg ggaggctgag gcgggcgggt cacaaggtca
     2641 ggagttcgag aacagcctga ccaacatggt gaaaccccat ctctactaaa aatacaaaaa
     2701 ttagctgggc gtggtggcac gtgcctgtaa tcccagctac tcaggaggct gaggcaggag
     2761 aatcgcttga acccgggagg cagaggttgc agtgaactga gattgtgcca ctgcactcca
     2821 gactgggtga cacagcgaga cttcatctca aaaaaaaaaa gaaaagaaaa gcaattgtac
     2881 ttcactatgc catatgtatg tattcactga ccaaaaattc actgaccaac caaccaaact
     2941 ccacacttca tctgatcccc catagacttg gggatggaca gctgttcttt ggccatatgg
     3001 tataagagga tcattcttgt cactacttaa gttagcctca tcattttgtg ctgctccaac
     3061 accagcaggg tatctcccaa taaagtgttc ctaagcagcc tgtatactga gtgcaagcag
     3121 gctatcaatt ttaataatag tccataccat gtatgtgttt ctgtcagcag aatgtacatg
     3181 ttgtacaaaa cctccaggtt ccttaagctt tttgctgtcc atgaatcctc tgtggcaact
     3241 gtaatcacag agccagaagc cagagggcca gggatatgag aggctgacaa acatcagggg
     3301 acatctgggg aggagatccc tgtcatgtct cttgtgccat ggagctatta tggctggtct
     3361 tccatttgct ttttctttaa gtgaaaacca tttttctact ttgcttttct ctccatactt
     3421 aaatggtcag tagctactga gtggtgcttt atctgaatag gcctggatcg aagtaaaata
     3481 gaaatgggac tggctttcca caggaagtaa actgcttcag agcccacagt cccctgctca
     3541 gtgtccggaa agaagtcagt catccctgtt ggcagtaaat cttcccacag gccgtccatt
     3601 agagatttaa ctagatatgt tcaatagaaa gagtctgagg caagtggaaa tgaggaacgg
     3661 aaacttaggt tgggagaata tttttttttt attcattctg tttgcttaat tcagagtaca
     3721 gtttgtgcta tttcatatct gtactccagg cagaaatata acttgaaaat actgtgtcta
     3781 aagaaatttc agtgttctat cattaaatta tttacttaat a
//
