LOCUS       NM_001636               1451 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 6 (SLC25A6), mRNA.
ACCESSION   NM_001636
VERSION     NM_001636.4
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 1451)
  AUTHORS   Skakkebaek,A., Kjaer-Sorensen,K., Matchkov,V.V., Christensen,L.L.,
            Just,J., Comert,C., Andersen,N.H., Oxvig,C. and Gravholt,C.H.
  TITLE     Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc
            interval duration
  JOURNAL   Sci Rep 13 (1), 12089 (2023)
   PUBMED   37495650
  REMARK    GeneRIF: Dosage of the pseudoautosomal gene SLC25A6 is implicated
            in QTc interval duration.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1451)
  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 1451)
  AUTHORS   Trisolini,L., Laera,L., Favia,M., Muscella,A., Castegna,A.,
            Pesce,V., Guerra,L., De Grassi,A., Volpicella,M. and Pierri,C.L.
  TITLE     Differential Expression of ADP/ATP Carriers as a Biomarker of
            Metabolic Remodeling and Survival in Kidney Cancers
  JOURNAL   Biomolecules 11 (1), 38 (2020)
   PUBMED   33396658
  REMARK    GeneRIF: Differential Expression of ADP/ATP Carriers as a Biomarker
            of Metabolic Remodeling and Survival in Kidney Cancers.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1451)
  AUTHORS   Wu,P.K., Hong,S.K., Chen,W., Becker,A.E., Gundry,R.L., Lin,C.W.,
            Shao,H., Gestwicki,J.E. and Park,J.I.
  TITLE     Mortalin (HSPA9) facilitates BRAF-mutant tumor cell survival by
            suppressing ANT3-mediated mitochondrial membrane permeability
  JOURNAL   Sci Signal 13 (622) (2020)
   PUBMED   32156782
  REMARK    GeneRIF: Mortalin (HSPA9) facilitates BRAF-mutant tumor cell
            survival by suppressing ANT3-mediated mitochondrial membrane
            permeability.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1451)
  AUTHORS   Chen,S., Fragoza,R., Klei,L., Liu,Y., Wang,J., Roeder,K., Devlin,B.
            and Yu,H.
  TITLE     An interactome perturbation framework prioritizes damaging missense
            mutations for developmental disorders
  JOURNAL   Nat Genet 50 (7), 1032-1040 (2018)
   PUBMED   29892012
REFERENCE   6  (bases 1 to 1451)
  AUTHORS   Slim,R., Levilliers,J., Ludecke,H.J., Claussen,U., Nguyen,V.C.,
            Gough,N.M., Horsthemke,B. and Petit,C.
  TITLE     A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase
            and escapes X-inactivation
  JOURNAL   Genomics 16 (1), 26-33 (1993)
   PUBMED   8486369
REFERENCE   7  (bases 1 to 1451)
  AUTHORS   Schiebel,K., Weiss,B., Wohrle,D. and Rappold,G.
  TITLE     A human pseudoautosomal gene, ADP/ATP translocase, escapes
            X-inactivation whereas a homologue on Xq is subject to
            X-inactivation
  JOURNAL   Nat Genet 3 (1), 82-87 (1993)
   PUBMED   8490661
REFERENCE   8  (bases 1 to 1451)
  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 1451)
  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 1451)
  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 CB150341.1, BC007850.2 and
            BC014775.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001636.3.
            
            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 is implicated in the function of
            the permability transition pore complex (PTPC), which regulates the
            release of mitochondrial products that induce apoptosis. The human
            genome contains several non-transcribed pseudogenes of this gene.
            [provided by RefSeq, Jun 2013].
            
            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 :: SRR1803614.26358.1,
                                           SRR3476690.261641.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000381401.11/
                                                  ENSP00000370808.5
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                CB150341.1         34-46
            14-1353             BC007850.2         1-1340
            1354-1451           BC014775.1         1340-1437
FEATURES             Location/Qualifiers
     source          1..1451
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /chromosome="Y"
                     /map="X"
                     /map="Y"
     gene            1..1451
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /note="solute carrier family 25 member 6"
                     /db_xref="GeneID:293"
                     /db_xref="HGNC:HGNC:10992"
                     /db_xref="MIM:300151"
                     /db_xref="MIM:403000"
     exon            1..215
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /inference="alignment:Splign:2.1.0"
     CDS             105..1001
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /note="ADP/ATP translocator of liver; ADP,ATP carrier
                     protein, liver; adenine nucleotide translocator 3; ADP,ATP
                     carrier protein 3; solute carrier family 25 (mitochondrial
                     carrier; adenine nucleotide translocator), member 6;
                     epididymis secretory sperm binding protein"
                     /codon_start=1
                     /product="ADP/ATP translocase 3"
                     /protein_id="NP_001627.2"
                     /db_xref="CCDS:CCDS14114.1"
                     /db_xref="GeneID:293"
                     /db_xref="HGNC:HGNC:10992"
                     /db_xref="MIM:300151"
                     /db_xref="MIM:403000"
                     /translation="MTEQAISFAKDFLAGGIAAAISKTAVAPIERVKLLLQVQHASKQ
                     IAADKQYKGIVDCIVRIPKEQGVLSFWRGNLANVIRYFPTQALNFAFKDKYKQIFLGG
                     VDKHTQFWRYFAGNLASGGAAGATSLCFVYPLDFARTRLAADVGKSGTEREFRGLGDC
                     LVKITKSDGIRGLYQGFSVSVQGIIIYRAAYFGVYDTAKGMLPDPKNTHIVVSWMIAQ
                     TVTAVAGVVSYPFDTVRRRMMMQSGRKGADIMYTGTVDCWRKIFRDEGGKAFFKGAWS
                     NVLRGMGGAFVLVLYDELKKVI"
     exon            216..702
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /inference="alignment:Splign:2.1.0"
     exon            703..843
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /inference="alignment:Splign:2.1.0"
     exon            844..1451
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1325..1330
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /note="hexamer: AACAAA"
     polyA_site      1353
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /note="major polyA site"
     regulatory      1429..1434
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /note="hexamer: AATAAA"
     polyA_site      1451
                     /gene="SLC25A6"
                     /gene_synonym="AAC3; ANT; ANT 2; ANT 3; ANT3; ANT3Y"
                     /note="major polyA site"
ORIGIN      
        1 cctttcggtc caggcggcgg cagggctgag ccagcgacgc cctccattca ctctccgcgc
       61 ccgttctccg gctgtcctcc cgttccgctg cccgccctgc caccatgacg gaacaggcca
      121 tctccttcgc caaagacttc ttggccggag gcatcgccgc cgccatctcc aagacggccg
      181 tggctccgat cgagcgggtc aagctgctgc tgcaggtcca gcacgccagc aagcagatcg
      241 ccgccgacaa gcagtacaag ggcatcgtgg actgcattgt ccgcatcccc aaggagcagg
      301 gcgtgctgtc cttctggagg ggcaaccttg ccaacgtcat tcgctacttc cccactcaag
      361 ccctcaactt cgccttcaag gataagtaca agcagatctt cctggggggc gtggacaagc
      421 acacgcagtt ctggaggtac tttgcgggca acctggcctc cggcggtgcg gccggcgcga
      481 cctccctctg cttcgtgtac ccgctggatt tcgccagaac ccgcctggca gcggacgtgg
      541 gaaagtcagg cacagagcgc gagttccgag gcctgggaga ctgcctggtg aagatcacca
      601 agtccgacgg catccggggc ctgtaccagg gcttcagtgt ctccgtgcag ggcatcatca
      661 tctaccgggc ggcctacttc ggcgtgtacg atacggccaa gggcatgctc cccgacccca
      721 agaacacgca catcgtggtg agctggatga tcgcgcagac cgtgacggcc gtggccggcg
      781 tggtgtccta ccccttcgac acggtgcggc ggcgcatgat gatgcagtcc gggcgcaaag
      841 gagctgacat catgtacacg ggcaccgtcg actgttggag gaagatcttc agagatgagg
      901 ggggcaaggc cttcttcaag ggtgcgtggt ccaacgtcct gcggggcatg gggggcgcct
      961 tcgtgctggt cctgtacgac gagctcaaga aggtgatcta agggccgcgg cctcctccac
     1021 acacacacac acaccagggg aaccaagaga accacgtaga atcctcaacc gtgcggacca
     1081 tcaaccttcg agaaattcca gttgtctttt tcccagccgc atcctgcctg tagatggccg
     1141 gggaaggctc tagaaaaggg gcgcattgcg atccaaccat cggcagccga ttccgtgtct
     1201 tgatcacggg gtgggaggga accgtggcgt ccctgcgtgg ggcccatggg tgagacactc
     1261 cagtactgag acctagagtc cagatgcttg taggagccaa gtcgtgttct aagtatttat
     1321 ttaaaacaaa agaatcacgt tttcccattt gtacttcagc gctagcccct gttttgcaca
     1381 gccgagtact ggcgagtatg ttctatgttg ggcctcctgc tgcaaaacaa taaacagagg
     1441 acgcagaggt c
//
