LOCUS       NM_001039355            2291 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 29 (SLC25A29),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001039355
VERSION     NM_001039355.3
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 2291)
  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 2291)
  AUTHORS   Zhang,H., Wang,Q., Gu,J., Yin,L., Liang,S., Wu,L., Xu,H., Zhao,C.
            and Gu,Y.
  TITLE     Elevated mitochondrial SLC25A29 in cancer modulates metabolic
            status by increasing mitochondria-derived nitric oxide
  JOURNAL   Oncogene 37 (19), 2545-2558 (2018)
   PUBMED   29459713
  REMARK    GeneRIF: Results provide evidence that aberrant elevated SLC25A29
            in cancer functioned to transport more arginine into mitochondria,
            improved mitochondria-derived nitric oxide levels, thus modulated
            metabolic status to facilitate increased cancer progression.
REFERENCE   3  (bases 1 to 2291)
  AUTHORS   Porcelli,V., Fiermonte,G., Longo,A. and Palmieri,F.
  TITLE     The human gene SLC25A29, of solute carrier family 25, encodes a
            mitochondrial transporter of basic amino acids
  JOURNAL   J Biol Chem 289 (19), 13374-13384 (2014)
   PUBMED   24652292
  REMARK    GeneRIF: The main physiological role of SLC25A29 is to import basic
            amino acids into mitochondria for mitochondrial protein synthesis
            and amino acid degradation.
REFERENCE   4  (bases 1 to 2291)
  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 2291)
  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 2291)
  AUTHORS   Camacho,J.A. and Rioseco-Camacho,N.
  TITLE     The human and mouse SLC25A29 mitochondrial transporters rescue the
            deficient ornithine metabolism in fibroblasts of patients with the
            hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
  JOURNAL   Pediatr Res 66 (1), 35-41 (2009)
   PUBMED   19287344
  REMARK    GeneRIF: The human and mouse SLC25A29 mitochondrial ornithine
            transporters (designated as ORNT3) rescue the deficient ornithine
            metabolism in fibroblasts of patients with the
            hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
REFERENCE   7  (bases 1 to 2291)
  AUTHORS   Sekoguchi,E., Sato,N., Yasui,A., Fukada,S., Nimura,Y.,
            Aburatani,H., Ikeda,K. and Matsuura,A.
  TITLE     A novel mitochondrial carnitine-acylcarnitine translocase induced
            by partial hepatectomy and fasting
  JOURNAL   J Biol Chem 278 (40), 38796-38802 (2003)
   PUBMED   12882971
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BX247983.1 and CF529947.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001039355.2.
            
            Summary: This gene encodes a nuclear-encoded mitochondrial protein
            that is a member of the large family of solute carrier family 25
            (SLC25) mitochondrial transporters. The members of this superfamily
            are involved in numerous metabolic pathways and cell functions.
            This gene product was previously reported to be a mitochondrial
            carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or
            an ornithine transporter (designated ORNT3, PMID:19287344),
            however, a recent study characterized the main role of this protein
            as a mitochondrial transporter of basic amino acids, with a
            preference for arginine and lysine (PMID:24652292). Alternatively
            spliced transcript variants have been found for this gene.
            [provided by RefSeq, Apr 2014].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK172788.1, AK123821.1 [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                 :: ENST00000359232.8/
                                                  ENSP00000352167.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2284              BX247983.1         80-2363
            2285-2291           CF529947.1         24-30               c
FEATURES             Location/Qualifiers
     source          1..2291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..2291
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="solute carrier family 25 member 29"
                     /db_xref="GeneID:123096"
                     /db_xref="HGNC:HGNC:20116"
                     /db_xref="MIM:615064"
     exon            1..246
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /inference="alignment:Splign:2.1.0"
     CDS             213..1124
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="isoform 1 is encoded by transcript variant 1;
                     carnitine-acylcarnitine translocase like; mitochondrial
                     carnitine/acylcarnitine carrier protein CACL; solute
                     carrier family 25 (mitochondrial carnitine/acylcarnitine
                     carrier), member 29; mitochondrial ornithine transporter
                     3; mitochondrial basic amino acids transporter"
                     /codon_start=1
                     /product="mitochondrial basic amino acids transporter
                     isoform 1"
                     /protein_id="NP_001034444.1"
                     /db_xref="CCDS:CCDS32156.1"
                     /db_xref="GeneID:123096"
                     /db_xref="HGNC:HGNC:20116"
                     /db_xref="MIM:615064"
                     /translation="MALDFLAGCAGGVAGVLVGHPFDTVKVRLQVQSVEKPQYRGTLH
                     CFKSIIKQESVLGLYKGLGSPLMGLTFINALVFGVQGNTLRALGHDSPLNQFLAGAAA
                     GAIQCVICCPMELAKTRLQLQDAGPARTYKGSLDCLAQIYGHEGLRGVNRGMVSTLLR
                     ETPSFGVYFLTYDALTRALGCEPGDRLLVPKLLLAGGTSGIVSWLSTYPVDVVKSRLQ
                     ADGLRGAPRYRGILDCVHQSYRAEGWRVFTRGLASTLLRAFPVNAATFATVTVVLTYA
                     RGEEAGPEGEAVPAAPAGPALAQPSSL"
     exon            247..290
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /inference="alignment:Splign:2.1.0"
     exon            291..374
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /inference="alignment:Splign:2.1.0"
     exon            375..2291
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2268..2273
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="hexamer: AATAAA"
     polyA_site      2291
                     /gene="SLC25A29"
                     /gene_synonym="C14orf69; CACL; ORNT3"
                     /note="major polyA site"
ORIGIN      
        1 agcgagtcag ctgccgccga gggaccagcg cgggtctagc tgctgccgcc atccccacca
       61 tccctgaccg cgcctgcccg ggctccgcgc caggaggagc ggccaggccc agccccggca
      121 ccgcgcgctc ggggaccccg acggcgccca gcccggcgag gggcctcagg gggaggacga
      181 ggaggaaagg cggcctcgcc ggggacccgg ccatggcgct ggacttcttg gctggatgcg
      241 cggggggtgt ggcaggcgtg cttgtgggac acccgtttga cacggtcaag gtacggcttc
      301 aggtccagag cgtggagaag cctcagtacc gcgggacgtt gcactgcttc aagtccatca
      361 tcaagcaaga gagcgtgctg ggcctgtaca agggcctggg ctcgccgctc atggggctca
      421 ccttcatcaa cgcgctggtg ttcggggtgc agggcaacac cctccgggcc ctgggccacg
      481 actcgcccct caaccagttc ctggcaggtg cggcggcggg cgccatccag tgcgtcatct
      541 gctgccccat ggagctggcc aagacgcggc tgcagctgca ggacgcgggc ccagcgcgca
      601 cctacaaggg ctcgctggac tgcctcgcgc agatctacgg gcacgagggt ctgcgtggcg
      661 tcaaccgggg catggtgtcc acgttgctgc gtgagacgcc cagcttcggc gtctacttcc
      721 tcacctatga cgctctcacg cgggcgctgg gctgcgagcc gggcgaccgc ctgctggtgc
      781 ccaagctgct gttggcgggc ggtacgtcag gcatcgtgtc ctggctctct acctatcctg
      841 tggacgtggt caagtcgcgg ctgcaggcgg acggactgcg gggcgccccg cgctaccgcg
      901 gcatcctgga ctgcgtgcac cagagctacc gcgccgaggg ctggcgcgtc ttcacacggg
      961 ggctggcgtc cacgctgctg cgcgccttcc ccgtcaacgc tgccaccttc gccaccgtca
     1021 cggtggtgct cacctacgcg cgcggcgagg aggccgggcc cgagggcgag gctgtgcccg
     1081 ccgcccctgc ggggcctgcc ctggcgcagc cctccagcct gtgacgctca ccccgccctc
     1141 cttccccagg gctccttctc agaaacctgg gacataaatt ggcccctgag tcgattgccc
     1201 tgcttcctgc tgggatgctg cgagctgtgg agtctatcag acgtgggctg aattttgctg
     1261 atcagctggg tagttttggc cgagaactgc acttgcctca gtgttctcat ctatgaaata
     1321 aggaccctca tgcccacact gtagagtcac gaagctcaga gattattccc agcagcagcc
     1381 agcacctggc ctggctgagg ccattgcacc gttatcctgg aaactgaggc agacactcca
     1441 gcccctttct gggatcctgg ccacgtcatt gtgctcctgc cctgcaggct ggctcccggg
     1501 ggtctctgat ggccaaccaa ggggccaccc agggacctct aactccacac atcctccacc
     1561 cgggggggtg gtgggccacc cctctggtct gtgttaggga cagaggaaaa cttggtgtgc
     1621 ctcctggtgt cacagaactg gatcctctgc ataccccagc ttctccacat gccactgcta
     1681 ggggtacccc agctgctgcc actcctgctg gagggtgaac tggggaccct gcaccctccg
     1741 ggaagccatg gagtctgctg gaggcaccat atcagcctgc gggactaggg tggggagcaa
     1801 acaggccagc ggtggaggtc tggacagttc aagtgtgatg cagctgtggc aaggagaaat
     1861 ccttccgcct ctgggcctca ggctgcctgt ccataaaatg gggacatggc cagctgacgg
     1921 acaactgagt ctccggccca cctaccaccg ccagccagga tcccccaaag tgtgcagagg
     1981 gctcagcaga gaacagtatg ggaccccctc accaggcctg gaacacctcc agccacaaag
     2041 aagccaaagg tcagtccctc tgctccccag caaacggtgc ctcccaggca ttctcagtgc
     2101 cagggcttca tccctgtgaa ggcacagggc ctgctagtgg gcacaggggt ggctagttgg
     2161 ggcctggggc agaggagggc tgcaccaggc gtcctgggga atgtgctcag tgaagacgac
     2221 actgggcttt gcacagcctg gtgtcgctgt acagaaactg tcaagggaat aaagtgttct
     2281 ttgtttttta a
//
