LOCUS       NM_001330988            3437 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 25 (SLC25A25),
            transcript variant 6, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001330988 XM_005251688
VERSION     NM_001330988.2
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 3437)
  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 3437)
  AUTHORS   Jabalameli,M.R., Fitzpatrick,F.M., Colombo,R., Howles,S.A.,
            Leggatt,G., Walker,V., Wiberg,A., Kunji,E.R.S. and Ennis,S.
  TITLE     Exome sequencing identifies a disease variant of the mitochondrial
            ATP-Mg/Pi carrier SLC25A25 in two families with kidney stones
  JOURNAL   Mol Genet Genomic Med 9 (12), e1749 (2021)
   PUBMED   34346195
  REMARK    GeneRIF: Exome sequencing identifies a disease variant of the
            mitochondrial ATP-Mg/Pi carrier SLC25A25 in two families with
            kidney stones.
REFERENCE   3  (bases 1 to 3437)
  AUTHORS   Cianciulli,A., Menga,A., Ferdinando,P. and Iacobazzi,V.
  TITLE     FOXD3 acts as a repressor of the mitochondrial S-adenosylmethionine
            carrier (SLC25A26) gene expression in cancer cells
  JOURNAL   Biochimie 154, 25-34 (2018)
   PUBMED   30076902
  REMARK    GeneRIF: FOXD3 acts as a repressor of the mitochondrial
            S-adenosylmethionine carrier (SLC25A26) gene expression in cancer
            cells.
REFERENCE   4  (bases 1 to 3437)
  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 3437)
  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 3437)
  AUTHORS   Letra,A., Menezes,R., Govil,M., Fonseca,R.F., McHenry,T.,
            Granjeiro,J.M., Castilla,E.E., Orioli,I.M., Marazita,M.L. and
            Vieira,A.R.
  TITLE     Follow-up association studies of chromosome region 9q and
            nonsyndromic cleft lip/palate
  JOURNAL   Am J Med Genet A 152A (7), 1701-1710 (2010)
   PUBMED   20583170
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 3437)
  AUTHORS   Fiermonte,G., De Leonardis,F., Todisco,S., Palmieri,L.,
            Lasorsa,F.M. and Palmieri,F.
  TITLE     Identification of the mitochondrial ATP-Mg/Pi transporter.
            Bacterial expression, reconstitution, functional characterization,
            and tissue distribution
  JOURNAL   J Biol Chem 279 (29), 30722-30730 (2004)
   PUBMED   15123600
  REMARK    GeneRIF: identification of three isoforms of the mitochondrial
            ATP-Mg/Pi carrier APC1, APC2 and APC3; they are most likely
            responsible for the net uptake or efflux of adenine nucleotides
            into or from the mitochondria [APC3]
REFERENCE   8  (bases 1 to 3437)
  AUTHORS   del Arco,A. and Satrustegui,J.
  TITLE     Identification of a novel human subfamily of mitochondrial carriers
            with calcium-binding domains
  JOURNAL   J Biol Chem 279 (23), 24701-24713 (2004)
   PUBMED   15054102
  REMARK    GeneRIF: SCaMC-2, has four variants generated by alternative
            splicing, resulting in proteins with a common C terminus but with
            variations in their N-terminal halves, including the loss of one to
            three EF-hand motifs
REFERENCE   9  (bases 1 to 3437)
  AUTHORS   Mashima,H., Ueda,N., Ohno,H., Suzuki,J., Ohnishi,H., Yasuda,H.,
            Tsuchida,T., Kanamaru,C., Makita,N., Iiri,T., Omata,M. and
            Kojima,I.
  TITLE     A novel mitochondrial Ca2+-dependent solute carrier in the liver
            identified by mRNA differential display
  JOURNAL   J Biol Chem 278 (11), 9520-9527 (2003)
   PUBMED   12645546
  REMARK    GeneRIF: may play an important role in regulating the function of
            hepatocytes rather than in differentiation in vivo
REFERENCE   10 (bases 1 to 3437)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL360268.14 and AL590708.18.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 13, 2020 this sequence version replaced NM_001330988.1.
            
            Summary: The protein encoded by this gene belongs to the family of
            calcium-binding mitochondrial carriers, with a characteristic
            mitochondrial carrier domain at the C-terminus. These proteins are
            found in the inner membranes of mitochondria, and function as
            transport proteins. They shuttle metabolites, nucleotides and
            cofactors through the mitochondrial membrane and thereby connect
            and/or regulate cytoplasm and matrix functions. This protein may
            function as an ATP-Mg/Pi carrier that mediates the transport of
            Mg-ATP in exchange for phosphate, and likely responsible for the
            net uptake or efflux of adenine nucleotides into or from the
            mitochondria. Alternatively spliced transcript variants encoding
            different isoforms with a common C-terminus but variable N-termini
            have been described for this gene. [provided by RefSeq, Jul 2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.127716.1,
                                           SRR11853563.33997.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142586
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000373069.10/
                                                  ENSP00000362160.5
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-349               AL360268.14        77667-78015
            350-476             AL590708.18        2401-2527
            477-564             AL590708.18        2614-2701
            565-600             AL590708.18        3385-3420
            601-712             AL590708.18        3675-3786
            713-871             AL590708.18        4986-5144
            872-1024            AL590708.18        7034-7186
            1025-1132           AL590708.18        7455-7562
            1133-1300           AL590708.18        7658-7825
            1301-1451           AL590708.18        8334-8484
            1452-3437           AL590708.18        8565-10550
FEATURES             Location/Qualifiers
     source          1..3437
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..3437
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /note="solute carrier family 25 member 25"
                     /db_xref="GeneID:114789"
                     /db_xref="HGNC:HGNC:20663"
                     /db_xref="MIM:608745"
     exon            1..349
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1636
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /note="isoform e is encoded by transcript variant 6; short
                     calcium-binding mitochondrial carrier 2; small
                     calcium-binding mitochondrial carrier 2; calcium-binding
                     mitochondrial carrier protein SCaMC-2; mitochondrial
                     ATP-Mg/Pi carrier protein 3; mitochondrial
                     Ca(2+)-dependent solute carrier protein 3; solute carrier
                     family 25 (mitochondrial carrier; phosphate carrier),
                     member 25; short calcium-binding mitochondrial carrier
                     protein 2; mitochondrial adenyl nucleotide antiporter
                     SLC25A25"
                     /codon_start=1
                     /product="mitochondrial adenyl nucleotide antiporter
                     SLC25A25 isoform e"
                     /protein_id="NP_001317917.1"
                     /db_xref="CCDS:CCDS83420.1"
                     /db_xref="GeneID:114789"
                     /db_xref="HGNC:HGNC:20663"
                     /db_xref="MIM:608745"
                     /translation="MVSSVLCRCVASPPPDAAATAASSSASSPASVGDPCGGAICGGP
                     DHRLRLWRLFQTLDVNRDGGLCVNDLAVGLRRLGLHRTEGELQKIVQAGDKDLDGQLD
                     FEEFVHYLQDHEKKLRLVFKSLDKKNDGRIDAQEIMQSLRDLGVKISEQQAEKILKRI
                     RTGHFWGPVTYMDKNGTMTIDWNEWRDYHLLHPVENIPEIILYWKHSTIFDVGENLTV
                     PDEFTVEERQTGMWWRHLVAGGGAGAVSRTCTAPLDRLKVLMQVHASRSNNMGIVGGF
                     TQMIREGGARSLWRGNGINVLKIAPESAIKFMAYEQIKRLVGSDQETLRIHERLVAGS
                     LAGAIAQSSIYPMEVLKTRMALRKTGQYSGMLDCARRILAREGVAAFYKGYVPNMLGI
                     IPYAGIDLAVYETLKNAWLQHYAVNSADPGVFVLLACGTMSSTCGQLASYPLALVRTR
                     MQAQASIEGAPEVTMSSLFKHILRTEGAFGLYRGLAPNFMKVIPAVSISYVVYENLKI
                     TLGVQSR"
     exon            350..476
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            477..564
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            565..600
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            601..712
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            713..871
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            872..1024
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1025..1132
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1133..1300
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1301..1451
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1452..3437
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3416..3421
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /note="hexamer: AATAAA"
     polyA_site      3437
                     /gene="SLC25A25"
                     /gene_synonym="MCSC; PCSCL; SCAMC-2; SCAMC2"
                     /note="major polyA site"
ORIGIN      
        1 gcagagcgcc tggcttgcct cccgcgcggt caccgccggc ccgccgcccc cgctcccgcc
       61 cgcgcccgga gcccctgcct cgcgcccgat ggtgagcagt gtgttgtgcc gctgtgtggc
      121 ctccccgccg ccggacgccg ccgccaccgc cgcctcttcg tctgcctcat cgccggcgtc
      181 cgtgggggac ccctgcggcg gcgctatctg cgggggcccg gaccaccggc tgcgcctgtg
      241 gagactcttt cagacgctcg acgtcaaccg ggacggcggc ctgtgtgtca acgacctggc
      301 ggtggggctg cggcgcctgg gactgcaccg caccgagggc gagctccaga aaattgtaca
      361 agctggagat aaggaccttg atgggcagct agactttgaa gaatttgtcc attatctcca
      421 agatcatgag aagaagctga ggctggtgtt taagagtttg gacaaaaaga atgatggacg
      481 cattgacgcg caggagatca tgcagtccct gcgggacttg ggagtcaaga tatctgaaca
      541 gcaggcagaa aaaattctca agagaatacg aacgggccat ttctggggcc ctgtcaccta
      601 catggataaa aacggcacga tgaccattga ctggaacgag tggagagact accacctcct
      661 ccaccccgtg gaaaacatcc ccgagatcat cctctactgg aagcattcca cgatctttga
      721 tgtgggtgag aatctaacgg tcccggatga gttcacagtg gaggagaggc agacggggat
      781 gtggtggaga cacctggtgg caggaggtgg ggcaggggcc gtatccagaa cctgcacggc
      841 ccccctggac aggctcaagg tgctcatgca ggtccatgcc tcccgcagca acaacatggg
      901 catcgttggt ggcttcactc agatgattcg agaaggaggg gccaggtcac tctggcgggg
      961 caatggcatc aacgtcctca aaattgcccc cgaatcagcc atcaaattca tggcctatga
     1021 gcagatcaag cgccttgttg gtagtgacca ggagactctg aggattcacg agaggcttgt
     1081 ggcagggtcc ttggcagggg ccatcgccca gagcagcatc tacccaatgg aggtcctgaa
     1141 gacccggatg gcgctgcgga agacaggcca gtactcagga atgctggact gcgccaggag
     1201 gatcctggcc agagaggggg tggccgcctt ctacaaaggc tatgtcccca acatgctggg
     1261 catcatcccc tatgccggca tcgaccttgc agtctacgag acgctcaaga atgcctggct
     1321 gcagcactat gcagtgaaca gcgcggaccc cggcgtgttt gtgctcctgg cctgtggcac
     1381 catgtccagt acctgtggcc agctggccag ctaccccctg gccctagtca ggacccggat
     1441 gcaggcgcaa gcctctattg agggcgctcc ggaggtgacc atgagcagcc tcttcaaaca
     1501 tatcctgcgg accgaggggg ccttcgggct gtacaggggg ctggccccca acttcatgaa
     1561 ggtcatccca gctgtgagca tcagctacgt ggtctacgag aacctgaaga tcaccctggg
     1621 cgtgcagtcg cggtgacggg gggagggccg cccggcagtg gactcgctga tcctgggccg
     1681 cagcctgggg tgtgcagcca tctcattctg tgaatgtgcc aacactaagc tgtctcgagc
     1741 caagctgtga aaaccctaga cgcacccgca gggagggtgg ggagagctgg caggcccagg
     1801 gcttgtcctg ctgaccccag cagaccctcc tgttggttcc agcgaagacc acaggcattc
     1861 cttagggtcc agggtcagca ggctccgggc tcacatgtgt aaggacagga cattttctgc
     1921 agtgcctgcc aatagcgagc ttggagcctg gaggccggct tagttcttcc atttcaccct
     1981 tgcagccagc tgttggccac ggcccctgcc ctctggtctg ccgtgcatct ccctgtgccc
     2041 tcttgctgcc tgcctgtctg ctgaggtaag gtgggaggag ggctacagcc cacatcccac
     2101 cccctcgtcc aatcccataa tccatgatga aaggtgaggt cacgtggcct cccaggcctg
     2161 acttcccaac ctacagcatt gacgccaact tggctgtgaa ggaagaggaa aggatctggc
     2221 cttgtggtca ctggcatctg agccctgctg atggctgggg ctctcgggca tgcttgggag
     2281 tgcagggggc tcgggctgcc tggcctggct gcacagaagg caagtgctgg ggctcatggt
     2341 gctctgagct ggcctggacc ctgtcaggat gggccccacc tcagaaccaa actcactgtc
     2401 cccactgtgg catgagggca gtggagcacc atgtttgagg gcgaagggca gagcgtttgt
     2461 gtgttctggg gagggaagga aaaggtgttg gaggccttaa ttatggactg ttgggaaaag
     2521 ggttttgtcc agaaggacaa gccggacaaa tgagcgactt ctgtgcttcc agaggaagac
     2581 gagggagcag gagcttggct gactgctcag agtctgttct gacgccctgg gggttcctgt
     2641 ccaaccccag caggggcgca gcgggaccag ccccacattc cacttgtgtc actgcttgga
     2701 acctatttat tttgtattta tttgaacaga gttatgtcct aactattttt atagatttgt
     2761 ttaattaata gcttgtcatt ttcaagttca ttttttattc atatttatgt tcatggttga
     2821 ttgtaccttc ccaagcccgc ccagtgggat gggaggagga ggagaagggg ggccttgggc
     2881 cgctgcagtc acatctgtcc agagaaattc cttttgggac tggaggcaga aaagcggcca
     2941 gaaggcagca gccctggctc ctttcctttg gcaggttggg gaagggcttg cccccagcct
     3001 taggatttca gggtttgact gggggcgtgg agagagaggg aggaacctca ataaccttga
     3061 aggtggaatc cagttatttc ctgcgctgcg agggtttctt tatttcactc ttttctgaat
     3121 gtcaaggcag tgaggtgcct ctcactgtga atttgtggtg ggcgggggct ggaggagagg
     3181 gtgggggact ggctccgtcc ctcccagcct tctgctgccc ttgcttaaca atgccggcca
     3241 actggcgacc tcacggttgc acttccattc caccagaatg acctgatgag gaaatcttca
     3301 ataggatgca aagatcaatg caaaaattgt tatatatgaa catataactg gagtcgtcaa
     3361 aaagcaaatt aagaaagaat tggacgttag aagttgtcat ttaaagcagc cttctaataa
     3421 agttgtttca aagctga
//
