LOCUS       NM_001191061            2640 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 22 (SLC25A22),
            transcript variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001191061
VERSION     NM_001191061.2
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 2640)
  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 2640)
  AUTHORS   Nicotera,A.G., Dicanio,D., Pironti,E., Bonsignore,M., Cafeo,A.,
            Efthymiou,S., Mondello,P., Salpietro,V., Houlden,H. and Di Rosa,G.
  TITLE     De novo mutation in SLC25A22 gene: expansion of the clinical and
            electroencephalographic phenotype
  JOURNAL   J Neurogenet 35 (2), 67-73 (2021)
   PUBMED   33821742
REFERENCE   3  (bases 1 to 2640)
  AUTHORS   Wong,C.C., Xu,J., Bian,X., Wu,J.L., Kang,W., Qian,Y., Li,W.,
            Chen,H., Gou,H., Liu,D., Yat Luk,S.T., Zhou,Q., Ji,F., Chan,L.S.,
            Shirasawa,S., Sung,J.J. and Yu,J.
  TITLE     In Colorectal Cancer Cells With Mutant KRAS, SLC25A22-Mediated
            Glutaminolysis Reduces DNA Demethylation to Increase WNT Signaling,
            Stemness, and Drug Resistance
  JOURNAL   Gastroenterology 159 (6), 2163-2180 (2020)
   PUBMED   32814111
  REMARK    GeneRIF: In Colorectal Cancer Cells With Mutant KRAS,
            SLC25A22-Mediated Glutaminolysis Reduces DNA Demethylation to
            Increase WNT Signaling, Stemness, and Drug Resistance.
REFERENCE   4  (bases 1 to 2640)
  AUTHORS   Lemattre,C., Imbert-Bouteille,M., Gatinois,V., Benit,P.,
            Sanchez,E., Guignard,T., Tran Mau-Them,F., Haquet,E., Rivier,F.,
            Carme,E., Roubertie,A., Boland,A., Lechner,D., Meyer,V.,
            Thevenon,J., Duffourd,Y., Riviere,J.B., Deleuze,J.F., Wells,C.,
            Molinari,F., Rustin,P., Blanchet,P. and Genevieve,D.
  TITLE     Report on three additional patients and genotype-phenotype
            correlation in SLC25A22-related disorders group
  JOURNAL   Eur J Hum Genet 27 (11), 1692-1700 (2019)
   PUBMED   31285529
  REMARK    GeneRIF: EIEE type 3 is caused by variants affecting function, in
            SLC25A22, which is also responsible for epilepsy of infancy with
            migrating focal seizures (EIMFS).
REFERENCE   5  (bases 1 to 2640)
  AUTHORS   Chen,M.W. and Wu,X.J.
  TITLE     SLC25A22 Promotes Proliferation and Metastasis of Osteosarcoma
            Cells via the PTEN Signaling Pathway
  JOURNAL   Technol Cancer Res Treat 17, 1533033818811143 (2018)
   PUBMED   30482097
  REMARK    GeneRIF: SLC25A22 is highly expressed in osteosarcoma, promoting
            osteosarcoma cell proliferation and invasion by inhibiting the
            phosphatase and tensin homolog signaling pathway
REFERENCE   6  (bases 1 to 2640)
  AUTHORS   Molinari,F., Kaminska,A., Fiermonte,G., Boddaert,N.,
            Raas-Rothschild,A., Plouin,P., Palmieri,L., Brunelle,F.,
            Palmieri,F., Dulac,O., Munnich,A. and Colleaux,L.
  TITLE     Mutations in the mitochondrial glutamate carrier SLC25A22 in
            neonatal epileptic encephalopathy with suppression bursts
  JOURNAL   Clin Genet 76 (2), 188-194 (2009)
   PUBMED   19780765
  REMARK    GeneRIF: A novel SLC25A22 mutation in an unrelated patient born
            from first cousin Algerian parents and presenting severe epileptic
            encephalopathy, is described.
REFERENCE   7  (bases 1 to 2640)
  AUTHORS   Molinari,F., Raas-Rothschild,A., Rio,M., Fiermonte,G.,
            Encha-Razavi,F., Palmieri,L., Palmieri,F., Ben-Neriah,Z.,
            Kadhom,N., Vekemans,M., Attie-Bitach,T., Munnich,A., Rustin,P. and
            Colleaux,L.
  TITLE     Impaired mitochondrial glutamate transport in autosomal recessive
            neonatal myoclonic epilepsy
  JOURNAL   Am J Hum Genet 76 (2), 334-339 (2005)
   PUBMED   15592994
REFERENCE   8  (bases 1 to 2640)
  AUTHORS   Palmieri,F.
  TITLE     The mitochondrial transporter family (SLC25): physiological and
            pathological implications
  JOURNAL   Pflugers Arch 447 (5), 689-709 (2004)
   PUBMED   14598172
  REMARK    Review article
REFERENCE   9  (bases 1 to 2640)
  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   10 (bases 1 to 2640)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP006621.1 and BC019033.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001191061.1.
            
            Summary: This gene encodes a mitochondrial glutamate carrier.
            Mutations in this gene are associated with early infantile
            epileptic encephalopathy. Multiple alternatively spliced variants,
            encoding the same protein, have been identified.[provided by
            RefSeq, Jul 2010].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR3476690.925414.1,
                                           SRR3476690.808947.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000628067.3/
                                                  ENSP00000486058.1
            RefSeq Select criteria             :: based on conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-46                AP006621.1         93131-93176         c
            47-2640             BC019033.2         1-2594
FEATURES             Location/Qualifiers
     source          1..2640
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.5"
     gene            1..2640
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /note="solute carrier family 25 member 22"
                     /db_xref="GeneID:79751"
                     /db_xref="HGNC:HGNC:19954"
                     /db_xref="MIM:609302"
     exon            1..65
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            66..248
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     CDS             229..1200
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /note="isoform 1 is encoded by transcript variant 3;
                     mitochondrial glutamate carrier 1; glutamate/H(+)
                     symporter 1; Early infantile epileptic encephalopathy 3;
                     solute carrier family 25 (mitochondrial carrier:
                     glutamate), member 22"
                     /codon_start=1
                     /product="mitochondrial glutamate carrier 1 isoform 1"
                     /protein_id="NP_001177990.1"
                     /db_xref="CCDS:CCDS7715.1"
                     /db_xref="GeneID:79751"
                     /db_xref="HGNC:HGNC:19954"
                     /db_xref="MIM:609302"
                     /translation="MADKQISLPAKLINGGIAGLIGVTCVFPIDLAKTRLQNQQNGQR
                     VYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEKAIKLAANDFFRHQLSKDGQKLT
                     LLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
                     EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPA
                     SEEKSPFYVSFLAGCVAGSAAAVAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKIL
                     RHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQDPQA"
     exon            249..374
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            375..430
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            431..521
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            522..640
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            641..815
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            816..970
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1046
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     exon            1047..2640
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2622..2627
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /note="hexamer: AATAAA"
     polyA_site      2640
                     /gene="SLC25A22"
                     /gene_synonym="DEE3; EIEE3; GC-1; GC1; NET44"
                     /note="major polyA site"
ORIGIN      
        1 ctccccgcct aggtgctggc cgagcgcggg gcgggcaggc gagcgcggcg gcggcggcga
       61 gcgtggacag aagtggcggt tgctgacgcc tggaaattcc cctgaaggtg gagcaccacc
      121 caacccccct gggtcccacc ctccctcaag gcctcctcca cctccacctc caccccgcct
      181 ggcctggcgt ccacctctgc ggctcctacc tgggtgcaat cgagttaaat ggctgataag
      241 cagatcagcc tgccagccaa gctcatcaat ggcggcatcg ccgggctgat cggtgtcacc
      301 tgcgtgtttc ccatcgacct ggccaagacc aggctgcaga accagcagaa cggccagcgc
      361 gtgtacacga gcatgtccga ctgcctcatc aagaccgtcc gctccgaggg ctacttcggc
      421 atgtaccggg gagctgctgt gaacttgacc ctcgtcaccc ccgagaaggc catcaagctg
      481 gcagccaacg acttcttccg acatcagctc tctaaggacg ggcagaagct gaccctgctt
      541 aaagagatgc tggcgggctg tggggctggc acctgccagg tgatcgtgac cacgcccatg
      601 gagatgctga agatccagct gcaggatgca gggcgcattg ccgcccagag gaagatcctg
      661 gctgcccagg gccagctctc ggcccagggg ggtgcccagc cctcagtgga ggctccagct
      721 gcccctcggc ccacggccac ccagctgacc cgcgacctgc tgcggagccg tggcattgcc
      781 ggtctctaca agggactcgg ggccacgctg ctcagggatg tccccttctc tgtggtgtac
      841 ttcccgctct ttgccaacct gaaccagctg ggccgcccgg cgtccgagga gaagtcgcct
      901 ttctacgtgt ccttcctggc cggctgtgtg gctgggagtg ccgccgctgt ggccgtcaac
      961 ccctgtgatg tggtgaagac gcggctccag tcacttcagc gaggcgtcaa cgaggacacc
     1021 tactctggga tcctggactg tgccaggaag atcctgcggc acgagggccc ctcggccttc
     1081 ctgaagggcg cctactgccg cgcgctggtc atcgcgcccc ttttcggcat cgcacaggtg
     1141 gtctacttcc tgggcatcgc ggagtccctg ctggggctgc tgcaggaccc ccaggcctga
     1201 gcccagcacc cgctccaccc cagccagctg ggcagggccg gtgtggggct ggagccaggc
     1261 agctagccca ggacggagca agggaagacc cctccccagc cctcccgtcg gcaggggcag
     1321 cagggggcag ggtgcagggt ccacataggt ggtgcacacg caagcccccc ggggtgctgc
     1381 ctgcaccgtt gggatcaatg tctcatttat gtagaaaatg cagaaatctt tacattcctc
     1441 aagctagccc ctgccccaat cctgccctgg cctgaacacc cccagggaca gagctggtct
     1501 ctgggctggg ggcccccggg cctgggccgg gcaggctgga ccataccccc agtccaccag
     1561 ctccagtctc cacagccatc ctggcccaca caggcacccc acacaaacct atttattgaa
     1621 tctgctggac ccaagcggct ctccagccct tccgtccttc cccagccgct cttgtcgcct
     1681 tggcaggact tgactctgcc tccctggcca gccttgcaag aggactgggg tctcctgccc
     1741 tctctgttga gccaggaatc ccaagtgagg ggttgccctg aggtctgact cttggggcaa
     1801 gcccgccacc cactgtggga ctttctggtg ggctcctcag ctcccacccc aggctggggc
     1861 ccagattgtg aggtctgtgt gcatgtgtgt gtgtatgtgt gtgtgcatgc gtgtgtgtgt
     1921 tgtggggatc tggcctggcc cttggggatg gggctgctgg ggactgcccc ccttcccgcc
     1981 gtggccaggc gctctgtgtg ctgtgtgtgc cccaggctct gttgaccccg tccaggaact
     2041 aacttaccca gcttggtctc tcctgagtcc tccaccctgg cctgggattg gccagggagc
     2101 agggcgggca ttgggaccag tgtggagcct gagggtgcct gccctgctct ggagggaggg
     2161 ccaggagctg ccacaccccc aagtcctctc agggcccacc ctcctttttc agcctctgca
     2221 taaggcccct gggtacactg cagaagcccc atccttcccg cctccgggca taaggcccct
     2281 gaccacactt cagaagcccc atcccccctg ccaccgggcg atccctgctg tgagccgaag
     2341 ctctccctgc cccgccctgg ccatgtgatc gtgttggtga cagaccctga tgtgctggtg
     2401 ctgtgtcccc aaaaccgggg ccctccacag aggccccttc ccagcgacac tacctggggc
     2461 tcaggcctgg acccccccag ttcacggttg ctcctgggag ctgcccctcc cgtcacatca
     2521 gaaccttgga agctgctgct gctgcttaca gaattatatt tttttctttt gaagagtttt
     2581 aagaagttgt aactttttgt gtcttgtcat gtcagagaat aaataaatat tctaagtaga
//
