LOCUS       NM_000387               1778 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 20 (SLC25A20), mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_000387 XM_941287
VERSION     NM_000387.6
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 1778)
  AUTHORS   Zhang,Q., Feng,X., Wang,X., Liu,F., Zhou,B., Zhang,C., Wang,Y.,
            Shi,J., Hao,S., Hui,L. and Yi,B.
  TITLE     [Clinical and genetic analysis of two pedigrees affected with
            Carnitine-acylcarnitine translocase deficiency due to variant of
            SLC25A20 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 41 (4), 467-472 (2024)
   PUBMED   38565514
  REMARK    GeneRIF: [Clinical and genetic analysis of two pedigrees affected
            with Carnitine-acylcarnitine translocase deficiency due to variant
            of SLC25A20 gene].
REFERENCE   2  (bases 1 to 1778)
  AUTHORS   Giangregorio,N., Tonazzi,A., Console,L., Scalise,M. and Indiveri,C.
  TITLE     Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by
            Itaconate through Irreversible Binding to Cysteine 136: Possible
            Pathophysiological Implications
  JOURNAL   Biomolecules 13 (6), 993 (2023)
   PUBMED   37371573
  REMARK    GeneRIF: Inhibition of the Mitochondrial Carnitine/Acylcarnitine
            Carrier by Itaconate through Irreversible Binding to Cysteine 136:
            Possible Pathophysiological Implications.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1778)
  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   4  (bases 1 to 1778)
  AUTHORS   Habib,A., Azize,N.A.A., Rahman,S.A., Yakob,Y., Suberamaniam,V.,
            Nazri,M.I.B.A., Abdullah Sani,H., Ch'ng,G.S., Yin,L.H., Olpin,S.
            and Lock-Hock,N.
  TITLE     Novel mutations associated with carnitine-acylcarnitine translocase
            and carnitine palmitoyl transferase 2 deficiencies in Malaysia
  JOURNAL   Clin Biochem 98, 48-53 (2021)
   PUBMED   34626609
  REMARK    GeneRIF: Novel mutations associated with carnitine-acylcarnitine
            translocase and carnitine palmitoyl transferase 2 deficiencies in
            Malaysia.
REFERENCE   5  (bases 1 to 1778)
  AUTHORS   Gurbuz,B.B., Yilmaz,D.Y., Ozgul,R.K., Kosukcu,C., Dursun,A.,
            Sivri,H.S., Coskun,T. and Tokatli,A.
  TITLE     Clinical and molecular characteristics of carnitineacylcarnitine
            translocase deficiency with c.270delC and a novel c.408C>A variant
  JOURNAL   Turk J Pediatr 63 (4), 691-696 (2021)
   PUBMED   34449152
  REMARK    GeneRIF: Clinical and molecular characteristics of
            carnitineacylcarnitine translocase deficiency with c.270delC and a
            novel c.408C>A variant.
REFERENCE   6  (bases 1 to 1778)
  AUTHORS   Huizing,M., Wendel,U., Ruitenbeek,W., Iacobazzi,V., IJlst,L.,
            Veenhuizen,P., Savelkoul,P., van den Heuvel,L.P., Smeitink,J.A.,
            Wanders,R.J., Trijbels,J.M. and Palmieri,F.
  TITLE     Carnitine-acylcarnitine carrier deficiency: identification of the
            molecular defect in a patient
  JOURNAL   J Inherit Metab Dis 21 (3), 262-267 (1998)
   PUBMED   9686371
REFERENCE   7  (bases 1 to 1778)
  AUTHORS   Huizing,M., Iacobazzi,V., Ijlst,L., Savelkoul,P., Ruitenbeek,W.,
            van den Heuvel,L., Indiveri,C., Smeitink,J., Trijbels,F.,
            Wanders,R. and Palmieri,F.
  TITLE     Cloning of the human carnitine-acylcarnitine carrier cDNA and
            identification of the molecular defect in a patient
  JOURNAL   Am J Hum Genet 61 (6), 1239-1245 (1997)
   PUBMED   9399886
REFERENCE   8  (bases 1 to 1778)
  AUTHORS   Viggiano,L., Iacobazzi,V., Marzella,R., Cassano,C., Rocchi,M. and
            Palmieri,F.
  TITLE     Assignment of the carnitine/acylcarnitine translocase gene (CACT)
            to human chromosome band 3p21.31 by in situ hybridization
  JOURNAL   Cytogenet Cell Genet 79 (1-2), 62-63 (1997)
   PUBMED   9533014
REFERENCE   9  (bases 1 to 1778)
  AUTHORS   Morales Corado,J.A., Lee,C.U. and Enns,G.M.
  TITLE     Carnitine-Acylcarnitine Translocase Deficiency
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   35862567
REFERENCE   10 (bases 1 to 1778)
  AUTHORS   Stanley,C.A., Hale,D.E., Berry,G.T., Deleeuw,S., Boxer,J. and
            Bonnefont,J.P.
  TITLE     Brief report: a deficiency of carnitine-acylcarnitine translocase
            in the inner mitochondrial membrane
  JOURNAL   N Engl J Med 327 (1), 19-23 (1992)
   PUBMED   1598097
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC360427.1, BC001689.2 and
            BQ018220.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000387.5.
            
            Summary: This gene product is one of several closely related
            mitochondrial-membrane carrier proteins that shuttle substrates
            between cytosol and the intramitochondrial matrix space. This
            protein mediates the transport of acylcarnitines into mitochondrial
            matrix for their oxidation by the mitochondrial fatty
            acid-oxidation pathway. Mutations in this gene are associated with
            carnitine-acylcarnitine translocase deficiency, which can cause a
            variety of pathological conditions such as hypoglycemia, cardiac
            arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and
            is usually lethal in new born and infants. [provided by RefSeq, Jul
            2008].
            
            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 :: SRR3476690.636810.1,
                                           SRR3476690.258896.1 [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                 :: ENST00000319017.5/
                                                  ENSP00000326305.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-17                DC360427.1         112-128
            18-1773             BC001689.2         1-1756
            1774-1778           BQ018220.1         21-25               c
FEATURES             Location/Qualifiers
     source          1..1778
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1778
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="solute carrier family 25 member 20"
                     /db_xref="GeneID:788"
                     /db_xref="HGNC:HGNC:1421"
                     /db_xref="MIM:613698"
     exon            1..193
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..994
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /EC_number="2.7.11.1"
                     /note="solute carrier family 25 (carnitine/acylcarnitine
                     translocase), member 20"
                     /codon_start=1
                     /product="mitochondrial carnitine/acylcarnitine carrier
                     protein"
                     /protein_id="NP_000378.1"
                     /db_xref="CCDS:CCDS2779.1"
                     /db_xref="GeneID:788"
                     /db_xref="HGNC:HGNC:1421"
                     /db_xref="MIM:613698"
                     /translation="MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPS
                     LPGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQK
                     HPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLY
                     QEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGI
                     AGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRA
                     FPANAACFLGFEVAMKFLNWATPNL"
     exon            194..286
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            287..414
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            415..505
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            506..623
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            624..696
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            697..806
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            807..931
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1778
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1756..1761
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="hexamer: AATAAA"
     polyA_site      1778
                     /gene="SLC25A20"
                     /gene_synonym="CAC; CACT"
                     /note="major polyA site"
ORIGIN      
        1 gaaaggtcgg cggcgccggc actgcagctg gggctgagaa gccaggacgg cccgagaact
       61 gacagacgga gtgacagacg gactgaccat ggccgaccag ccaaaaccca tcagcccgct
      121 caagaacctg ctggccggcg gctttggcgg cgtgtgcctg gtgttcgtcg gtcaccctct
      181 ggacacggtc aaggtccgac tgcagacaca gccaccgagt ttgcctggac aacctcccat
      241 gtactctggg acctttgact gtttccggaa gactcttttt agagagggca tcacggggct
      301 atatcgggga atggctgccc ctatcatcgg ggtcactccc atgtttgccg tgtgcttctt
      361 tgggtttggt ttggggaaga aactacaaca gaaacaccca gaagatgtgc tcagctatcc
      421 ccagcttttt gcagctggga tgttatctgg cgtattcacc acaggaatca tgactcctgg
      481 agaacggatc aagtgcttat tacagattca ggcttcttca ggagaaagca agtacactgg
      541 taccttggac tgtgcaaaga agctgtacca ggagtttggg atccgaggca tctacaaagg
      601 gactgtgctt acccttatgc gagatgtccc agctagtgga atgtatttca tgacatatga
      661 atggctgaaa aatatcttca ctccggaggg aaagagggtc agtgagctca gtgcccctcg
      721 gatcttggtg gctgggggca ttgcagggat cttcaactgg gctgtggcaa tccccccaga
      781 tgtgctcaag tctcgattcc agactgcacc tcctgggaaa tatcctaatg gtttcagaga
      841 tgtgctgagg gagctgatcc gggatgaagg agtcacatcc ttgtacaaag ggttcaatgc
      901 agtgatgatc cgagccttcc cagccaatgc ggcctgtttc cttggctttg aagttgccat
      961 gaagttcctt aattgggcca cccccaactt gtgaggctga aggctgctca agttcacttc
     1021 tggatgctgg aagctgtcgt tgaggagaag gagtagtaag cagaactaag cagtcttgga
     1081 gggcaagggg aggggaatgg tgagatccga gccctgtgca tggacttggt gagactgttg
     1141 ccttaatgac atcctgcacc gtgtataact tagtgtgtca ttttgaaact tgaattcatt
     1201 cttatcaatt taagggatct taaaaggatt tggaaatgga acaagtagct tccagaccag
     1261 atactacctg tggcaagaat gctgcctacc agttaactgc tggtcctacc acagtcaaag
     1321 tattcctcat taaagagaga atctcaggtt ctcactggag gcactgtgca tattttcaac
     1381 cagatcacca ggagctgaga tcttcttcag tccctagcca ggaataccca tttgatttcc
     1441 agggtgccat ctaatcctgg gctgtacatg tggatatgga cttgaggccc acctctgtgt
     1501 ccaagtggat tgagcatata tgcctaggag gagatagact gttaatcgtt ggattttgat
     1561 tttttttttt tatgcctgca aataatcaaa agtaaaactg gagtagccta attttctggg
     1621 agcaggtgga gaactttccc tcctacacag tgaggacagt cccagtctgc tgggataagt
     1681 gagaaagccc agggtgtagg aaggcccttt ttacatactc ttttctcatg agagctcact
     1741 attttaacaa taaacaataa acgttgtttc taattttt
//
