LOCUS       NM_001379210            2035 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 26 (SLC25A26),
            transcript variant 7, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001379210
VERSION     NM_001379210.1
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 2035)
  AUTHORS   Ji,Y., Wang,S., Cheng,Y., Fang,L., Zhao,J., Gao,L. and Xu,C.
  TITLE     Identification and characterization of novel compound variants in
            SLC25A26 associated with combined oxidative phosphorylation
            deficiency 28
  JOURNAL   Gene 804, 145891 (2021)
   PUBMED   34375635
  REMARK    GeneRIF: Identification and characterization of novel compound
            variants in SLC25A26 associated with combined oxidative
            phosphorylation deficiency 28.
REFERENCE   2  (bases 1 to 2035)
  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 2035)
  AUTHORS   Menga,A., Palmieri,E.M., Cianciulli,A., Infantino,V., Mazzone,M.,
            Scilimati,A., Palmieri,F., Castegna,A. and Iacobazzi,V.
  TITLE     SLC25A26 overexpression impairs cell function via mtDNA
            hypermethylation and rewiring of methyl metabolism
  JOURNAL   FEBS J 284 (6), 967-984 (2017)
   PUBMED   28118529
  REMARK    GeneRIF: overexpression of SLC25A26 in CaSki cells increases
            mitochondrial SAM availability and promotes hypermethylation of
            mitochondrial DNA, leading to decreased expression of key
            respiratory complex subunits, reduction of mitochondrial ATP and
            release of cytochrome c.
REFERENCE   4  (bases 1 to 2035)
  AUTHORS   Kishita,Y., Pajak,A., Bolar,N.A., Marobbio,C.M., Maffezzini,C.,
            Miniero,D.V., Monne,M., Kohda,M., Stranneheim,H., Murayama,K.,
            Naess,K., Lesko,N., Bruhn,H., Mourier,A., Wibom,R., Nennesmo,I.,
            Jespers,A., Govaert,P., Ohtake,A., Van Laer,L., Loeys,B.L.,
            Freyer,C., Palmieri,F., Wredenberg,A., Okazaki,Y. and Wedell,A.
  TITLE     Intra-mitochondrial Methylation Deficiency Due to Mutations in
            SLC25A26
  JOURNAL   Am J Hum Genet 97 (5), 761-768 (2015)
   PUBMED   26522469
  REMARK    GeneRIF: SLC25A26 mutations cause various mitochondrial defects,
            including those affecting RNA stability, protein modification,
            mitochondrial translation, and the biosynthesis of CoQ10 and lipoic
            acid.
REFERENCE   5  (bases 1 to 2035)
  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   6  (bases 1 to 2035)
  AUTHORS   Agrimi,G., Di Noia,M.A., Marobbio,C.M., Fiermonte,G., Lasorsa,F.M.
            and Palmieri,F.
  TITLE     Identification of the human mitochondrial S-adenosylmethionine
            transporter: bacterial expression, reconstitution, functional
            characterization and tissue distribution
  JOURNAL   Biochem J 379 (Pt 1), 183-190 (2004)
   PUBMED   14674884
  REMARK    GeneRIF: SAMC was expressed in mitochondria of all human tissues
            examined. The role of SAMC is probably to exchange cytosolic SAM
            for mitochondrial S-adenosylhomocysteine. This is the 1st report of
            identification & characterization of the human SAMC & its gene.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC235952.3, AK096876.1,
            AC170165.1 and AC092034.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: This gene is a member of the mitochondrial carrier family
            which includes nuclear-encoded transporters localized on the inner
            mitochondrial membranes. Members of the family transport important
            small molecules across the mitochondrial inner membrane. This
            protein is involved in the transport of S-adenosylmethionine (SAM)
            into the mitochondria. Mutations in this gene are associated with
            combined oxidative phosphorylation deficiency 28. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Apr 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.776106.1,
                                           SRR11853563.23166.1 [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                 :: ENST00000354883.11/
                                                  ENSP00000346955.6
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                AC235952.3         28423-28433
            12-215              AK096876.1         3-206
            216-216             AC170165.1         21010-21010         c
            217-390             AK096876.1         208-381
            391-391             AC170165.1         14333-14333         c
            392-716             AK096876.1         383-707
            717-717             AC092034.2         126813-126813
            718-1213            AK096876.1         709-1204
            1214-2035           AC092034.2         135383-136204
FEATURES             Location/Qualifiers
     source          1..2035
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p14.1"
     gene            1..2035
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /note="solute carrier family 25 member 26"
                     /db_xref="GeneID:115286"
                     /db_xref="HGNC:HGNC:20661"
                     /db_xref="MIM:611037"
     exon            1..127
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     CDS             95..919
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /note="isoform a is encoded by transcript variant 7;
                     solute carrier family 25 (mitochondrial carrier; phosphate
                     carrier), member 26; S-adenosylmethionine mitochondrial
                     carrier protein; mitochondrial S-adenosylmethionine
                     transporter; solute carrier family 25
                     (S-adenosylmethionine carrier), member 26; SAM carrier;
                     mitochondrial S-adenosylmethionine carrier protein"
                     /codon_start=1
                     /product="mitochondrial S-adenosylmethionine carrier
                     protein isoform a"
                     /protein_id="NP_001366139.1"
                     /db_xref="CCDS:CCDS2905.2"
                     /db_xref="GeneID:115286"
                     /db_xref="HGNC:HGNC:20661"
                     /db_xref="MIM:611037"
                     /translation="MDRPGFVAALVAGGVAGVSVDLILFPLDTIKTRLQSPQGFSKAG
                     GFHGIYAGVPSAAIGSFPNAAAFFITYEYVKWFLHADSSSYLTPMKHMLAASAGEVVA
                     CLIRVPSEVVKQRAQVSASTRTFQIFSNILYEEGIQGLYRGYKSTVLREIPFSLVQFP
                     LWESLKALWSWRQDHVVDSWQSAVCGAFAGGFAAAVTTPLDVAKTRITLAKAGSSTAD
                     GNVLSVLHGVWRSQGLAGLFAGVFPRMAAISLGGFIFLGAYDRTHSLLLEVGRKSP"
     exon            128..284
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            285..394
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            395..499
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            500..547
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            548..592
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            593..662
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            663..727
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            728..801
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     exon            802..2035
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1169..1174
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /note="hexamer: AATAAA"
     polyA_site      1193
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /note="major polyA site"
     regulatory      2013..2018
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /note="hexamer: AATAAA"
     polyA_site      2035
                     /gene="SLC25A26"
                     /gene_synonym="COXPD28; SAMC"
                     /note="major polyA site"
ORIGIN      
        1 agacccgcct caaacatggc ggcgcccagc gcgcgaggac gtgatccgct tctgctccgg
       61 cttggattgt agccttgacg aggtctgagc gaccatggac cggccggggt tcgtggcagc
      121 gctggtggct ggtggggtag caggtgtttc tgttgacttg atattatttc ctctggatac
      181 cattaaaacc aggctgcaga gtccccaagg atttagtaag gctggtggtt ttcatggaat
      241 atatgctggc gttccttctg ctgctattgg atcctttcct aatgctgctg cattttttat
      301 cacctatgaa tatgtgaagt ggtttttgca tgctgattca tcttcatatt tgacacctat
      361 gaaacatatg ttggctgcct ctgctggaga agtggttgcc tgcctgattc gagttccatc
      421 tgaagtggtt aagcagaggg cacaggtatc tgcttctaca agaacatttc agattttctc
      481 taacatctta tatgaagagg gtatccaagg gttgtatcga ggctataaaa gcacagtttt
      541 aagagagatt cctttttctt tggtccagtt tcccttatgg gagtccttaa aagccctctg
      601 gtcctggagg caggatcatg tggtggattc ttggcagtca gcagtctgtg gagcttttgc
      661 aggtggattt gccgctgcag tcaccacccc tctagacgtg gcaaagacaa gaattacgct
      721 ggcaaaggct ggctccagca ctgctgatgg gaatgtgctc tctgtcctgc atggggtctg
      781 gcggtcacag gggctggcag gattatttgc aggtgtcttc cctcgaatgg cagccatcag
      841 tctgggaggt ttcatctttc tgggggctta tgaccgaacg cacagcttgc tgttggaagt
      901 tggcagaaag agtccttgaa gcagagacaa gcctcacctc cacttctgtc aagagagggg
      961 cctgcagtgc aaaccctctt ccgctgagca gctgtctgaa ctataggccc cagtgctgaa
     1021 gaccagttgt gctaagatac cggcatggag attgtgccat ccgtggtata ggctggctgg
     1081 tatgaagtca ttggcctgta tgccagagag ctaagagaag aaaacggggt ctgtggcggt
     1141 actctgaaca atttcctcag aacctcttaa taaataagtt tggtaatgct gaggccaggc
     1201 cttttagagc tttcatttga tctgtatctg atctttcatt tcctgccacc tgatggtgga
     1261 ttcagcagaa ggcaagatgg ttataattct aaaagaatag cttgtttgtt tgtttgggaa
     1321 aaggagactt ggggaagagt tgtgtatgtg ggtgtttctc cccctagtta attcctgttg
     1381 tgtaagggta ggctttgttg aaaaagaaag aaagattgaa ctacaggtgc atagcaagca
     1441 ctctttctgg gtaactaggc tgctggtttt aattaccctc agatttcacc cataaaaacg
     1501 cacaattgta ttattttaca gagatgtgtc cagcgccccc tgtggtgtgt gagagaaagc
     1561 agctgcaact caagtgacta ggtgggccca gctggcttcg tgcaggaggg cacggtgggt
     1621 gagccattct cgccattctc atgtcagact gaaaggaggg cctgggccag ctttgaaaag
     1681 gcaggatgaa atggaaaggt caccacactt agggatttta gaccttgact aacaagctcc
     1741 aggtgtagaa aaattcaaaa caaaatgtca ggaatctagc agtgttgtct gccctggagc
     1801 aaacaaacag tatgtgattt tgcttcgcct attttttttt tcttttttgg gggaagataa
     1861 ttaaaggcag aatgactgcg tttgtaaaag aaggaccacc aactatactg acatttataa
     1921 atgaaccttt attaaagaca cttcaatgcc atttgttaga cacttcaata ttttacatgg
     1981 ttttcaatgt acactgtacc aaaatttcta taaataaata actttgtaca taaaa
//
