LOCUS       NM_207117               1779 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 47 (SLC25A47),
            transcript variant 1, mRNA.
ACCESSION   NM_207117
VERSION     NM_207117.4
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 1779)
  AUTHORS   Cheng,L., Deepak,R.N.V.K., Wang,G., Meng,Z., Tao,L., Xie,M.,
            Chi,W., Zhang,Y., Yang,M., Liao,Y., Chen,R., Liang,Y., Zhang,J.,
            Huang,Y., Wang,W., Guo,Z., Wang,Y., Lin,J.D., Fan,H. and Chen,L.
  TITLE     Hepatic mitochondrial NAD + transporter SLC25A47 activates
            AMPKalpha mediating lipid metabolism and tumorigenesis
  JOURNAL   Hepatology 78 (6), 1828-1842 (2023)
   PUBMED   36804859
  REMARK    GeneRIF: Hepatic mitochondrial NAD + transporter SLC25A47 activates
            AMPKalpha mediating lipid metabolism and tumorigenesis.
REFERENCE   2  (bases 1 to 1779)
  AUTHORS   Ren,H., Xiao,C.L., Li,W.R., Liu,M.Z. and Luo,J.Q.
  TITLE     The human glucose and lipid homeostasis-associated genetic
            polymorphisms do not regulate SLC25A47 gene expression in the liver
  JOURNAL   Proc Natl Acad Sci U S A 120 (32), e2307269120 (2023)
   PUBMED   37523565
  REMARK    GeneRIF: The human glucose and lipid homeostasis-associated genetic
            polymorphisms do not regulate SLC25A47 gene expression in the
            liver.
REFERENCE   3  (bases 1 to 1779)
  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 1779)
  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 1779)
  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 1779)
  AUTHORS   Jin,X., Yang,Y.D., Chen,K., Lv,Z.Y., Zheng,L., Liu,Y.P., Chen,S.H.,
            Yu,C.H., Jiang,X.Y., Zhang,C.Y. and Li,Y.M.
  TITLE     HDMCP uncouples yeast mitochondrial respiration and alleviates
            steatosis in L02 and hepG2 cells by decreasing ATP and H2O2 levels:
            a novel mechanism for NAFLD
  JOURNAL   J Hepatol 50 (5), 1019-1028 (2009)
   PUBMED   19303656
  REMARK    GeneRIF: HDMCP might function through promoting ATP depletion and
            decreasing H(2)O(2) production.
REFERENCE   7  (bases 1 to 1779)
  AUTHORS   Tan,M.G., Ooi,L.L., Aw,S.E. and Hui,K.M.
  TITLE     Cloning and identification of hepatocellular carcinoma
            down-regulated mitochondrial carrier protein, a novel
            liver-specific uncoupling protein
  JOURNAL   J Biol Chem 279 (43), 45235-45244 (2004)
   PUBMED   15322095
  REMARK    GeneRIF: hepatocellular carcinoma down-regulated mitochondrial
            carrier protein is a novel liver-specific uncoupling protein
REFERENCE   8  (bases 1 to 1779)
  AUTHORS   Yamada,S., Ohira,M., Horie,H., Ando,K., Takayasu,H., Suzuki,Y.,
            Sugano,S., Hirata,T., Goto,T., Matsunaga,T., Hiyama,E., Hayashi,Y.,
            Ando,H., Suita,S., Kaneko,M., Sasaki,F., Hashizume,K., Ohnuma,N.
            and Nakagawara,A.
  TITLE     Expression profiling and differential screening between
            hepatoblastomas and the corresponding normal livers: identification
            of high expression of the PLK1 oncogene as a poor-prognostic
            indicator of hepatoblastomas
  JOURNAL   Oncogene 23 (35), 5901-5911 (2004)
   PUBMED   15221005
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA036173.1, AY569438.1 and
            HY289447.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_207117.3.
            
            Summary: This gene encodes a member of a large family of
            mitochondrial transporters. The nuclear-encoded carrier protein is
            embedded in the inner mitochondrial membrane. This member of the
            family is thought to be an uncoupling protein that uncouples
            mitochondrial respiration from ATP synthesis by dissipating the
            transmembrane proton gradient. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Apr 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY569438.1, BX248260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145122, SAMEA2155590
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            MANE Ensembl match                 :: ENST00000361529.5/
                                                  ENSP00000354886.3
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3                 DA036173.1         6-8
            4-1736              AY569438.1         1-1733
            1737-1779           HY289447.1         1-43                c
FEATURES             Location/Qualifiers
     source          1..1779
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q32.2"
     gene            1..1779
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /note="solute carrier family 25 member 47"
                     /db_xref="GeneID:283600"
                     /db_xref="HGNC:HGNC:20115"
                     /db_xref="MIM:609911"
     exon            1..104
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /inference="alignment:Splign:2.1.0"
     CDS             77..1003
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatocellular carcinoma down-regulated mitochondrial
                     carrier protein; hepatocellular carcinoma-downregulated
                     mitochondrial carrier protein; HCC-down-regulated
                     mitochondrial carrier protein; mitochondrial NAD(+)
                     transporter SLC25A47"
                     /codon_start=1
                     /product="solute carrier family 25 member 47 isoform 1"
                     /protein_id="NP_997000.2"
                     /db_xref="CCDS:CCDS9959.1"
                     /db_xref="GeneID:283600"
                     /db_xref="HGNC:HGNC:20115"
                     /db_xref="MIM:609911"
                     /translation="MDFVAGAIGGVCGVAVGYPLDTVKVRIQTEPKYTGIWHCVRDTY
                     HRERVWGFYRGLSLPVCTVSLVSSVSFGTYRHCLAHICRLRYGNPDAKPTKADITLSG
                     CASGLVRVFLTSPTEVAKVRLQTQTQAQKQQRRLSASGPLAVPPMCPVPPACPEPKYR
                     GPLHCLATVAREEGLCGLYKGSSALVLRDGHSFATYFLSYAVLCEWLSPAGHSRPDVP
                     GVLVAGGCAGVLAWAVATPMDVIKSRLQADGQGQRRYRGLLHCMVTSVREEGPRVLFK
                     GLVLNCCRAFPVNMVVFVAYEAVLRLARGLLT"
     exon            105..148
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /inference="alignment:Splign:2.1.0"
     exon            149..220
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /inference="alignment:Splign:2.1.0"
     exon            221..403
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /inference="alignment:Splign:2.1.0"
     exon            404..722
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /inference="alignment:Splign:2.1.0"
     exon            723..1779
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1712..1717
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /note="hexamer: AATAAA"
     polyA_site      1730
                     /gene="SLC25A47"
                     /gene_synonym="C14orf68; HDCMP; HDMCP; HMFN1655"
                     /note="major polyA site"
ORIGIN      
        1 gctgttgagg ccaccctggt ggcaccaaag ccctctcagg caggcagacc cagggcctcc
       61 ccgccacacc ttgttcatgg attttgtcgc tggagccatc ggaggcgtct gcggtgttgc
      121 tgtgggctac cccctggaca cggtgaaggt caggatccag acggagccaa agtacacagg
      181 catctggcac tgcgtccggg atacgtatca ccgagagcgc gtgtggggct tctaccgggg
      241 cctctcgctg cccgtgtgca cggtgtccct ggtatcttcc gtgtcttttg gcacctaccg
      301 ccactgcctg gcgcacatct gccggctccg gtacggcaac cctgacgcca agcccaccaa
      361 ggccgacatc acgctctcgg gatgcgcctc cggcctcgtc cgcgtgttcc tgacgtcgcc
      421 cactgaggtg gccaaagtcc gcttgcagac gcagacacag gcgcagaagc agcagcggcg
      481 gctttcggcc tcggggccgt tggctgtgcc ccccatgtgt cctgtgcccc cagcctgccc
      541 agagcccaag taccgcgggc cactgcactg cctggccacg gtagcccgtg aggaggggct
      601 gtgcggcctc tacaagggca gctcggccct ggtcttacgg gacggccact cctttgccac
      661 ctacttcctt tcctacgcgg tcctctgcga gtggctcagc cccgctggcc acagccggcc
      721 agatgtcccg ggcgtgctgg tggccggggg ctgtgcagga gtcctggcct gggctgtggc
      781 cacccccatg gacgtgatca agtcgagact gcaggcagac gggcagggcc agaggcgcta
      841 ccggggtctc ctgcactgta tggtgaccag cgttcgagag gagggacccc gggtcctttt
      901 caaggggctg gtactcaatt gctgccgcgc cttccctgtc aacatggtgg tcttcgtcgc
      961 ctatgaggca gtgctgaggc tcgcccgggg tctgctcaca tagccggtcc ccacgcccag
     1021 cggcccaccc accagcagct gctggaggtc gtagtggctg gaggaggcaa ggggtagtgt
     1081 ggctgggttc gggaccccac agggccattg cccaggagaa tgaggagcct ccctgcagtg
     1141 ttgtcggccg aggcctgagc tcgccctgcc cagctactga cctcaggtcg aggggcccgc
     1201 cagccatcag ccagggttgg cctagggtgg caggagccag ggaggagtgg gcctctttga
     1261 tgagagcgtt gagttgcatg gagtcggttg ttcatcccag cctccccatg gccctcgcct
     1321 cccatgtctt tgaagcaccc ctccagggag tcaggtgtgt gctcagccac cctctgcccc
     1381 attcctagac cctcaccccc accactgttc ctgtgtcttc acgagctgtc ccttacaggc
     1441 aggggcttcc cacaggctgg gggcctcggg gcggggagca tgagctgggc tggcaccacg
     1501 actgagggct cccggctcgg cttcttcccc acagcaggct gctcagaggg ggtgctgccg
     1561 ggactgccat gcccacctga gaggggcctg gggtggccgt cctcggccgg ttagggaatt
     1621 tggggtgagg ttcctcagga gccctcactc tgcctgtgga cgctgcacct gccacttaaa
     1681 gaccccaaag actctgttgg gaactgttgt caataaaatg tttctgagga tgttcagggc
     1741 tgtggctcca tggccgtggg ctgactgttc cctgccccc
//
