LOCUS       NM_001151               4415 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens solute carrier family 25 member 4 (SLC25A4), mRNA.
ACCESSION   NM_001151
VERSION     NM_001151.4
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 4415)
  AUTHORS   Sui,J., Boatz,J.C., Shi,J., Hu,Q., Li,X., Zhang,Y., Konigshoff,M.
            and Kliment,C.R.
  TITLE     Loss of ANT1 Increases Fibrosis and Epithelial Cell Senescence in
            Idiopathic Pulmonary Fibrosis
  JOURNAL   Am J Respir Cell Mol Biol 69 (5), 556-569 (2023)
   PUBMED   37487137
  REMARK    GeneRIF: Loss of ANT1 Increases Fibrosis and Epithelial Cell
            Senescence in Idiopathic Pulmonary Fibrosis.
REFERENCE   2  (bases 1 to 4415)
  AUTHORS   Mishra,G., Coyne,L.P. and Chen,X.J.
  TITLE     Adenine nucleotide carrier protein dysfunction in human disease
  JOURNAL   IUBMB Life 75 (11), 911-925 (2023)
   PUBMED   37449547
  REMARK    GeneRIF: Adenine nucleotide carrier protein dysfunction in human
            disease.
            Review article
REFERENCE   3  (bases 1 to 4415)
  AUTHORS   Cimadamore-Werthein,C., Jaiquel Baron,S., King,M.S., Springett,R.
            and Kunji,E.R.
  TITLE     Human mitochondrial ADP/ATP carrier SLC25A4 operates with a
            ping-pong kinetic mechanism
  JOURNAL   EMBO Rep 24 (8), e57127 (2023)
   PUBMED   37278158
  REMARK    GeneRIF: Human mitochondrial ADP/ATP carrier SLC25A4 operates with
            a ping-pong kinetic mechanism.
REFERENCE   4  (bases 1 to 4415)
  AUTHORS   Arbogast,S., Kotzur,H., Frank,C., Compagnone,N., Sutra,T.,
            Pillard,F., Pietri,S., Hmada,N., Moussa,D.M.A., Bride,J.,
            Franconnet,S., Mercier,J., Cristol,J.P., Dabauvalle,M.C. and
            Laoudj-Chenivesse,D.
  TITLE     ANT1 overexpression models: Some similarities with
            facioscapulohumeral muscular dystrophy
  JOURNAL   Redox Biol 56, 102450 (2022)
   PUBMED   36030628
  REMARK    GeneRIF: ANT1 overexpression models: Some similarities with
            facioscapulohumeral muscular dystrophy.
REFERENCE   5  (bases 1 to 4415)
  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   6  (bases 1 to 4415)
  AUTHORS   Fan,Y.S., Yang,H.M. and Lin,C.C.
  TITLE     Assignment of the human muscle adenine nucleotide translocator gene
            (ANT1) to 4q35 by fluorescence in situ hybridization
  JOURNAL   Cytogenet Cell Genet 60 (1), 29-30 (1992)
   PUBMED   1582253
REFERENCE   7  (bases 1 to 4415)
  AUTHORS   Li,K., Warner,C.K., Hodge,J.A., Minoshima,S., Kudoh,J.,
            Fukuyama,R., Maekawa,M., Shimizu,Y., Shimizu,N. and Wallace,D.C.
  TITLE     A human muscle adenine nucleotide translocator gene has four exons,
            is located on chromosome 4, and is differentially expressed
  JOURNAL   J Biol Chem 264 (24), 13998-14004 (1989)
   PUBMED   2547778
REFERENCE   8  (bases 1 to 4415)
  AUTHORS   Cozens,A.L., Runswick,M.J. and Walker,J.E.
  TITLE     DNA sequences of two expressed nuclear genes for human
            mitochondrial ADP/ATP translocase
  JOURNAL   J Mol Biol 206 (2), 261-280 (1989)
   PUBMED   2541251
REFERENCE   9  (bases 1 to 4415)
  AUTHORS   Houldsworth,J. and Attardi,G.
  TITLE     Two distinct genes for ADP/ATP translocase are expressed at the
            mRNA level in adult human liver
  JOURNAL   Proc Natl Acad Sci U S A 85 (2), 377-381 (1988)
   PUBMED   2829183
REFERENCE   10 (bases 1 to 4415)
  AUTHORS   Neckelmann,N., Li,K., Wade,R.P., Shuster,R. and Wallace,D.C.
  TITLE     cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack
            of a leader peptide, divergence from a fibroblast translocator
            cDNA, and coevolution with mitochondrial DNA genes
  JOURNAL   Proc Natl Acad Sci U S A 84 (21), 7580-7584 (1987)
   PUBMED   2823266
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI544547.1, BC008664.1,
            AC093824.3, AC112237.1 and AC093592.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001151.3.
            
            Summary: This gene is a member of the mitochondrial carrier
            subfamily of solute carrier protein genes. The product of this gene
            functions as a gated pore that translocates ADP from the cytoplasm
            into the mitochondrial matrix and ATP from the mitochondrial matrix
            into the cytoplasm. The protein forms a homodimer embedded in the
            inner mitochondria membrane. Mutations in this gene have been shown
            to result in autosomal dominant progressive external opthalmoplegia
            and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun
            2013].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803613.48497.1,
                                           SRR1660805.245794.1 [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                 :: ENST00000281456.11/
                                                  ENSP00000281456.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BI544547.1         31-39
            10-1313             BC008664.1         1-1304
            1314-1559           AC093824.3         149017-149262
            1560-3553           AC112237.1         1-1994
            3554-4415           AC093592.3         1-862
FEATURES             Location/Qualifiers
     source          1..4415
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1"
     gene            1..4415
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /note="solute carrier family 25 member 4"
                     /db_xref="GeneID:291"
                     /db_xref="HGNC:HGNC:10990"
                     /db_xref="MIM:103220"
     exon            1..218
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /inference="alignment:Splign:2.1.0"
     CDS             108..1004
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /note="adenine nucleotide translocator 1 (skeletal
                     muscle); heart/skeletal muscle ATP/ADP translocator;
                     ADP,ATP carrier protein 1; ADP,ATP carrier protein,
                     heart/skeletal muscle; solute carrier family 25
                     (mitochondrial carrier; adenine nucleotide translocator),
                     member 4; progressive external ophthalmoplegia 3;
                     progressive external ophthalmoplegia 2; ADP/ATP carrier 1"
                     /codon_start=1
                     /product="ADP/ATP translocase 1"
                     /protein_id="NP_001142.2"
                     /db_xref="CCDS:CCDS34114.1"
                     /db_xref="GeneID:291"
                     /db_xref="HGNC:HGNC:10990"
                     /db_xref="MIM:103220"
                     /translation="MGDHAWSFLKDFLAGGVAAAVSKTAVAPIERVKLLLQVQHASKQ
                     ISAEKQYKGIIDCVVRIPKEQGFLSFWRGNLANVIRYFPTQALNFAFKDKYKQLFLGG
                     VDRHKQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKGAAQREFHGLGDC
                     IIKIFKSDGLRGLYQGFNVSVQGIIIYRAAYFGVYDTAKGMLPDPKNVHIFVSWMIAQ
                     SVTAVAGLVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIAKDEGAKAFFKGAWS
                     NVLRGMGGAFVLVLYDEIKKYV"
     exon            219..705
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /inference="alignment:Splign:2.1.0"
     exon            706..846
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /inference="alignment:Splign:2.1.0"
     exon            847..4415
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1285..1290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /note="hexamer: AATAAA"
     polyA_site      1304
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /note="major polyA site"
     regulatory      4397..4402
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
                     /note="hexamer: AATAAA"
     polyA_site      4415
                     /gene="SLC25A4"
                     /gene_synonym="AAC1; ANT; ANT 1; ANT1; MTDPS12; MTDPS12A;
                     PEO2; PEO3; PEOA2; T1"
ORIGIN      
        1 ggccccctag cgtcgcgcag ggtcggggac tgcgcggcgg tgccaggccg ggcgtgggcg
       61 agagcacgaa cgggctgcct gcgggctgag agcgtcgagc tgtcaccatg ggtgatcacg
      121 cttggagctt cctaaaggac ttcctggccg ggggcgtcgc cgctgccgtc tccaagaccg
      181 cggtcgcccc catcgagagg gtcaaactgc tgctgcaggt ccagcatgcc agcaaacaga
      241 tcagtgctga gaagcagtac aaagggatca ttgattgtgt ggtgagaatc cctaaggagc
      301 agggcttcct ctccttctgg aggggtaacc tggccaacgt gatccgttac ttccccaccc
      361 aagctctcaa cttcgccttc aaggacaagt acaagcagct cttcttaggg ggtgtggatc
      421 ggcataagca gttctggcgc tactttgctg gtaacctggc gtccggtggg gccgctgggg
      481 ccacctccct ttgctttgtc tacccgctgg actttgctag gaccaggttg gctgctgatg
      541 tgggcaaggg cgccgcccag cgtgagttcc atggtctggg cgactgtatc atcaagatct
      601 tcaagtctga tggcctgagg gggctctacc agggtttcaa cgtctctgtc caaggcatca
      661 ttatctatag agctgcctac ttcggagtct atgatactgc caaggggatg ctgcctgacc
      721 ccaagaacgt gcacattttt gtgagctgga tgattgccca gagtgtgacg gcagtcgcag
      781 ggctggtgtc ctaccccttt gacactgttc gtcgtagaat gatgatgcag tccggccgga
      841 aaggggccga tattatgtac acggggacag ttgactgctg gaggaagatt gcaaaagacg
      901 aaggagccaa ggccttcttc aaaggtgcct ggtccaatgt gctgagaggc atgggcggtg
      961 cttttgtatt ggtgttgtat gatgagatca aaaaatatgt ctaatgtaat taaaacacaa
     1021 gttcacagat ttacagtgaa cttgatctac aagttcacag atccattgtg tggtttaata
     1081 gactattcct aggggaagta aaaagatctg ggataaaacc agactgaaag gaatacctca
     1141 gaagagatgc ttcattgagt gttcattaaa ccacacatgt attttgtatt tattttacat
     1201 ttaaattccc acagcaaata gaaaataatt tatcatactt gtacaattaa ctgaagaatt
     1261 gataataact gaatgtgaaa catcaataaa gaccacttaa tgcacgcttt ctattttatt
     1321 gaactcttat taactgtaaa atgcattttt aaaagatcaa aaatgcatat tttctagcat
     1381 gattcatgta tcagtcagca gccaagcttc taaatgccag atattatatt gagaatgtat
     1441 tatatgagaa cgtacaatgc ttaaagttcc ggttttcaaa cttaggcagg tcatattcta
     1501 tctatcttat ccagcattac tgtaggctag aaagtgataa tggctttcat aatcctgcct
     1561 tgtcttaggc actttcctgc agtctttaga aattctaaga ttctgctaaa agttttaaat
     1621 cacaatctgg agaattttct atgattagga agtgctctgt tttcatccct ttagataact
     1681 gtgacaccta gaattttatg ttaagtagag agtattcatt gaaaatcaag gccaggtgca
     1741 gtggctcaca cctgtcaccc cagcactttg ggaggcagag gtgggcgtat cacttcaggc
     1801 caggagtttg agaccagcct ggccaaccga gcgaaacccc atctctaata aaaatacaaa
     1861 aaattagctg ggtgtggtgg cgcacacctg taatcccaac tactcaggag gctgaggcat
     1921 cagaatcact tgaacccgag aggcagaggt tgcagtgagc tgagatggca tgccaccaca
     1981 tccatcctaa gcgacagggc aagactctgt ctcaaaaaaa aaaaaaagaa agaaaatcag
     2041 ttgtcttagt ttaagctact ataacaaggt actgtagact gatggcttat aagcaacaga
     2101 aacttatttc tcagttctgt agtctggagg tccaagatca aggtgacact gtggtcaggt
     2161 tctgatgagg gccctcttct gggttataaa ctacggactt cttgtatcct tacatggcag
     2221 aaagagcgac agagctctct gtagtccctt ttataagctc actaatccca ttcatgaggg
     2281 ccctaccctc atgacccaat tacctcccaa atgcccctcc tccaaacacc accactttgg
     2341 gggttaagat ttcaacagat gaattttgaa gggacacaaa cattcagtcc atagcatcac
     2401 ttatcaagct agtatttaat acctcttagg ccccgtggaa gggaaaatag ataggaacct
     2461 gccctgaaag atgcttcagt tggggagaaa aggtgaaatt ccattgttag acaatttgtt
     2521 taagacaata catcttgctt gagaaggaat agaagggaaa tgaaatgggg ggagggagtg
     2581 gtaggagatg gaggctttga aagaaaataa ccagatttag aaacatgggt atagaaagca
     2641 tcctccagta cttctgtaac aatttatcaa gacctacagg aagtcagttt tggatttgct
     2701 cctccgagat ttgcgagcca gaggaaaata cttagactat caggttggaa agttcacact
     2761 tggaccagga aaagaccaag cagttgctat agtctcctgg attgtgacta atctggagga
     2821 agcaagtccc tgtatccttg gcaaagcttg aaaggcaggc aaatgtcttc tctgtgtttt
     2881 ctgacaggtg gttgggtggt gggggttggt ctctgtacct cctgttcttt accttgctta
     2941 ccaagccctt ccaccgactc actcctgcct ccccagctaa aaattggctg tgttgctttt
     3001 accacagtta ccaaggtctg agttttataa aatccaggat cacatctgac ctcacctggt
     3061 agatatctag gccaataaag tctaaagggc taaaaagaag gtacctctcc atcctgtctc
     3121 ctcgaggcca ggcagcacat gtgcagttaa gaggcctcct ggatccattg tcctcctgtt
     3181 gcttttcgtt ctaagtgatc caaactctat tgctgatagg gaataaaagc agggcaggct
     3241 agtagtgggc aagtgctttg atggagcgta tctccaagca gggcccaagt ttaggaggag
     3301 gaagacctga tacaatgaat gaacagtgcg tcctcccaac ccaaccaaga agtgtaattg
     3361 tgttccgtct ttaaccctgg catggaatgg ggagggaaga ggcatggaca tttattacat
     3421 agtgcacatt atctacattc tctgcatgtg acccagatgt cagcccttcc gcttcctgcg
     3481 aaggttacct ctaatgcacg ttgccccagg ccctgctgag ctagttcctc accgcagcta
     3541 cttaactcac catgaattcc tagaaccctc agcctctgag agtgctggga tctggcggga
     3601 gaacaggcag tacttccctc actaacctac ccgcacgcca taccatcatt gtgcaaagct
     3661 gcctcatgct ggaaggtctg gtttacgtaa aagtgacaag ttggaattga gcgtccgact
     3721 ctcgggtacc tgccccaggc atttctcatc agccccattt cccacacagc tctctcctag
     3781 gcgcagccct ccttcaccac caccaccccc accccaatca cctttaggta ttttctcccc
     3841 taaagcctca cctgttggca ttttacatct ttttaagacc ttattttgta ttttaaatgt
     3901 atgagaaaaa ttatggagga tgatgcaaga tgagtgagtc cataatggta ataattggac
     3961 actaaaaaca atgaaaactt gtctcaagta tttgtgttga aatctcaatt aactgggcga
     4021 ctgctcccgt tccattttat tctgtaaaat atgtggcatc ctttgtgttg aggcggcatt
     4081 tactaaacac ccccaaggtg caaggctgca agagaatcga gcgccgcaag gcgagcttat
     4141 cttccacacc tggtacagtg cccaggacag agaaggtgtt tagcaagttt ctgctgaatg
     4201 gaagagtgag cgagaaggga aagtgcatct aaaaagcaca gggaacctac aaaatatttg
     4261 ggaaagggtt tcatcagttc gggtgaaatc ttgaacgtgc aaagcaccat gggggtggct
     4321 ggacaggctt gttggagtcg tataatgcaa tgaataaaaa cttacggctg ccttaaatgc
     4381 aaatgtcaag cccttaaata aaatttaaca aagtc
//
