LOCUS       NM_031481               2186 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 18 (SLC25A18),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_031481
VERSION     NM_031481.3
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 2186)
  AUTHORS   Song,J.Y., Jia,Y., Han,H., Yang,X.H., Zhang,J., Zhang,Q.,
            Wang,S.S., Wang,C.Y., Chen,L. and Zhang,M.
  TITLE     Increased expression of SLC25A18 is associated with Alzheimer's
            disease and is involved in Abeta42-induced mitochondrial
            dysfunction and apoptosis in neuronal cells
  JOURNAL   Mitochondrion 78, 101918 (2024)
   PUBMED   38871013
  REMARK    GeneRIF: Increased expression of SLC25A18 is associated with
            Alzheimer's disease and is involved in Abeta42-induced
            mitochondrial dysfunction and apoptosis in neuronal cells.
REFERENCE   2  (bases 1 to 2186)
  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 2186)
  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   4  (bases 1 to 2186)
  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 2186)
  AUTHORS   Knijnenburg,J., van Bever,Y., Hulsman,L.O., van Kempen,C.A.,
            Bolman,G.M., van Loon,R.L., Beverloo,H.B. and van Zutven,L.J.
  TITLE     A 600 kb triplication in the cat eye syndrome critical region
            causes anorectal, renal and preauricular anomalies in a
            three-generation family
  JOURNAL   Eur J Hum Genet 20 (9), 986-989 (2012)
   PUBMED   22395867
  REMARK    GeneRIF: The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the
            critical region for cat eye syndrome (CES), may be responsible for
            anorectal, renal and preauricular anomalies in patients with CES.
REFERENCE   6  (bases 1 to 2186)
  AUTHORS   Fiermonte,G., Palmieri,L., Todisco,S., Agrimi,G., Palmieri,F. and
            Walker,J.E.
  TITLE     Identification of the mitochondrial glutamate transporter.
            Bacterial expression, reconstitution, functional characterization,
            and tissue distribution of two human isoforms
  JOURNAL   J Biol Chem 277 (22), 19289-19294 (2002)
   PUBMED   11897791
REFERENCE   7  (bases 1 to 2186)
  AUTHORS   Palmieri,L., Pardo,B., Lasorsa,F.M., del Arco,A., Kobayashi,K.,
            Iijima,M., Runswick,M.J., Walker,J.E., Saheki,T., Satrustegui,J.
            and Palmieri,F.
  TITLE     Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate
            transporters in mitochondria
  JOURNAL   EMBO J 20 (18), 5060-5069 (2001)
   PUBMED   11566871
REFERENCE   8  (bases 1 to 2186)
  AUTHORS   Footz,T.K., Brinkman-Mills,P., Banting,G.S., Maier,S.A.,
            Riazi,M.A., Bridgland,L., Hu,S., Birren,B., Minoshima,S.,
            Shimizu,N., Pan,H., Nguyen,T., Fang,F., Fu,Y., Ray,L., Wu,H.,
            Shaull,S., Phan,S., Yao,Z., Chen,F., Huan,A., Hu,P., Wang,Q.,
            Loh,P., Qi,S., Roe,B.A. and McDermid,H.E.
  TITLE     Analysis of the cat eye syndrome critical region in humans and the
            region of conserved synteny in mice: a search for candidate genes
            at or near the human chromosome 22 pericentromere
  JOURNAL   Genome Res 11 (6), 1053-1070 (2001)
   PUBMED   11381032
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY008285.1, HY351290.1 and AC007666.12.
            
            On Nov 22, 2018 this sequence version replaced NM_031481.2.
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803617.82165.1,
                                           SRR1660807.123274.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000327451.11/
                                                  ENSP00000329033.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1992              AY008285.1         16-2007
            1993-2081           HY351290.1         29-117              c
            2082-2186           AC007666.12        102685-102789
FEATURES             Location/Qualifiers
     source          1..2186
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q11.21"
     gene            1..2186
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /note="solute carrier family 25 member 18"
                     /db_xref="GeneID:83733"
                     /db_xref="HGNC:HGNC:10988"
                     /db_xref="MIM:609303"
     exon            1..216
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            217..279
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            280..499
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             480..1427
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /note="glutamate/H(+) symporter 2; solute carrier family
                     25 (mitochondrial carrier), member 18; solute carrier
                     family 25 (glutamate carrier), member 18"
                     /codon_start=1
                     /product="mitochondrial glutamate carrier 2"
                     /protein_id="NP_113669.1"
                     /db_xref="CCDS:CCDS13744.1"
                     /db_xref="GeneID:83733"
                     /db_xref="HGNC:HGNC:10988"
                     /db_xref="MIM:609303"
                     /translation="MTHQDLSITAKLINGGVAGLVGVTCVFPIDLAKTRLQNQHGKAM
                     YKGMIDCLMKTARAEGFFGMYRGAAVNLTLVTPEKAIKLAANDFFRRLLMEDGMQRNL
                     KMEMLAGCGAGMCQVVVTCPMEMLKIQLQDAGRLAVHHQGSASAPSTSRSYTTGSAST
                     HRRPSATLIAWELLRTQGLAGLYRGLGATLLRDIPFSIIYFPLFANLNNLGFNELAGK
                     ASFAHSFVSGCVAGSIAAVAVTPLDVLKTRIQTLKKGLGEDMYSGITDCARKLWIQEG
                     PSAFMKGAGCRALVIAPLFGIAQGVYFIGIGERILKCFD"
     exon            500..622
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            623..678
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            679..769
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            770..888
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1054
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1055..1209
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1285
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1286..2186
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2056..2061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /note="hexamer: AATAAA"
     polyA_site      2076
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /note="major polyA site"
     regulatory      2164..2169
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
                     /note="hexamer: ATTAAA"
     polyA_site      2186
                     /gene="SLC25A18"
                     /gene_synonym="GC2"
ORIGIN      
        1 attctggaca gcatatgaca aggacgagga cccctattct agccagttaa agctggacag
       61 aatttttaaa agcaatgaag ccagttcctt ggatatatcc acgggctttg ctttgagaag
      121 gaactgagta ggcagtgaga agagtcgagt gaagcctggc ccgtgagtgc ctcaacaact
      181 gagatgaacg tcgactcgct tgcaggcaag ttgtcactca gcagcgatct gaactatatc
      241 ctgggttcca gaaaaggcag aggttcttac cgaaagcagg ggaggaagcc gcagcccaag
      301 gaggtcgtca cttgccggga aggtggctcg ggccaggctg cactcaaaac ccgtgctctg
      361 tccacactgc tacggggcca gagccaagga agcttccact tcttccccca gacagcccca
      421 acagcggcta ccccaaggag ccagcagcct tgtgtcctgg gatccccagc ccctgcagaa
      481 tgacccacca ggatctgagc atcacagcca aactcatcaa tggaggtgta gcagggctcg
      541 tgggggtgac ctgcgtgttc cccatcgact tggccaagac tcgcctgcag aaccagcatg
      601 ggaaagccat gtacaaagga atgatcgact gcctgatgaa gacggctcgg gcggagggct
      661 tcttcggcat gtaccgaggg gctgcagtga acctcactct ggtcactcca gagaaggcca
      721 tcaagctggc ggccaacgac tttttccggc ggctgctcat ggaagatggg atgcagcgga
      781 acctgaagat ggagatgctt gccgggtgtg gggctgggat gtgccaggtc gtggtgacct
      841 gtcccatgga aatgctcaag attcagctgc aggatgctgg acgcctggcc gtccatcatc
      901 agggctcggc ctcagcaccc tccacctcca ggtcctacac aactggttcg gcttccaccc
      961 acaggcgccc ctctgccacc ctcattgcct gggagctgct ccgcactcag ggcctggctg
     1021 ggctctacag gggcctgggt gccactctcc tcagagacat tcctttctcc atcatctact
     1081 tcccactgtt tgccaacctt aacaacctgg ggttcaacga gctcgccggt aaggcgtcct
     1141 ttgcacattc cttcgtgtca ggctgtgtgg caggttccat agctgcggtc gcagtgacgc
     1201 ctctagatgt tctgaaaact cgaatccaaa ccctcaagaa aggcctgggc gaggacatgt
     1261 acagtgggat caccgactgt gccaggaaac tctggattca ggagggacca tctgccttca
     1321 tgaaaggcgc tggctgccgg gcactggtca tagcacctct ctttgggatt gctcaagggg
     1381 tctattttat tgggattgga gagcgcatct taaagtgttt tgactagaca gagctggagg
     1441 tcaagtccct gcgcttgccg ccctctctct agctgtttca cttagcctag agggggcaag
     1501 ggcaggtggg gccactctgg cctgcctggt cctctgcgtt gtagtgctac ctcaatctcg
     1561 ggagaaacag ccctatattc taacaagttg agcacagcct tcttcccctt cgtgtctaca
     1621 ctcgttttcc tttgtgggca cagctaccag gggcttttgg aagcccctaa ccacctactt
     1681 ttcaacaaaa atggtacttt cgttgtatta attgcaggac cttaacaggt agtcacaata
     1741 gaagggttgt ttctgtattt taacatttct atttcacagt caaactcggc attcttcagt
     1801 cagcttgagg atttagcatt gttaatcttg gactccataa cttatgagtc ctagcactga
     1861 ttttgaggaa aaggaggatc agaagttcaa gggaccgtga aagccctcag agtcagcacc
     1921 tagtttgaga ccaagcaccc tttcgaatcc ctggatggct gagggggctg aggccggctc
     1981 tgactgggca gctcagcccc tcccccagag cccagggtct tgcacacccc tccctgtaac
     2041 caaggaacac tctgaaataa aggtgaatgg ctaaaatctc atctgttcat cagtgggtac
     2101 agcagatagg ctgcagtgaa tgctatcacc atctactttt ctacgtccat ttcaaaacca
     2161 aacattaaaa agggcataga agcaga
//
