LOCUS       NM_001126121            1630 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens solute carrier family 25 member 19 (SLC25A19),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001126121
VERSION     NM_001126121.2
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 1630)
  AUTHORS   Jiang,Z.
  TITLE     SLC25A19 is required for NADH homeostasis and mitochondrial
            respiration
  JOURNAL   Free Radic Biol Med 222, 317-330 (2024)
   PUBMED   38944213
  REMARK    GeneRIF: SLC25A19 is required for NADH homeostasis and
            mitochondrial respiration.
REFERENCE   2  (bases 1 to 1630)
  AUTHORS   Ramamoorthy,K., Sabui,S., Manzon,K.I., Balamurugan,A.N. and
            Said,H.M.
  TITLE     miR-122-5p is involved in posttranscriptional regulation of the
            mitochondrial thiamin pyrophosphate transporter (SLC25A19) in
            pancreatic acinar cells
  JOURNAL   Am J Physiol Gastrointest Liver Physiol 325 (4), G347-G355 (2023)
   PUBMED   37529835
  REMARK    GeneRIF: miR-122-5p is involved in posttranscriptional regulation
            of the mitochondrial thiamin pyrophosphate transporter (SLC25A19)
            in pancreatic acinar cells.
REFERENCE   3  (bases 1 to 1630)
  AUTHORS   Samur,B.M., Gumus,G., Canpolat,M., Gumus,H., Per,H. and
            Caglayan,A.O.
  TITLE     Clinical and genetic studies of thiamine metabolism dysfunction
            syndrome-4: case series and review of the literature
  JOURNAL   Clin Dysmorphol 31 (3), 125-131 (2022)
   PUBMED   35102031
  REMARK    GeneRIF: Clinical and genetic studies of thiamine metabolism
            dysfunction syndrome-4: case series and review of the literature.
            Review article
REFERENCE   4  (bases 1 to 1630)
  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   5  (bases 1 to 1630)
  AUTHORS   Chen,Y., Fang,B., Hu,X., Guo,R., Guo,J., Fang,K., Ni,J., Li,W.,
            Qian,S. and Hao,C.
  TITLE     Identification and functional analysis of novel SLC25A19 variants
            causing thiamine metabolism dysfunction syndrome 4
  JOURNAL   Orphanet J Rare Dis 16 (1), 403 (2021)
   PUBMED   34587972
  REMARK    GeneRIF: Identification and functional analysis of novel SLC25A19
            variants causing thiamine metabolism dysfunction syndrome 4.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1630)
  AUTHORS   Lam,W., Chen,C., Ruan,S., Leung,C.H. and Cheng,Y.C.
  TITLE     Expression of deoxynucleotide carrier is not associated with the
            mitochondrial DNA depletion caused by anti-HIV dideoxynucleoside
            analogs and mitochondrial dNTP uptake
  JOURNAL   Mol Pharmacol 67 (2), 408-416 (2005)
   PUBMED   15539640
REFERENCE   7  (bases 1 to 1630)
  AUTHORS   Rosenberg,M.J., Agarwala,R., Bouffard,G., Davis,J., Fiermonte,G.,
            Hilliard,M.S., Koch,T., Kalikin,L.M., Makalowska,I., Morton,D.H.,
            Petty,E.M., Weber,J.L., Palmieri,F., Kelley,R.I., Schaffer,A.A. and
            Biesecker,L.G.
  TITLE     Mutant deoxynucleotide carrier is associated with congenital
            microcephaly
  JOURNAL   Nat Genet 32 (1), 175-179 (2002)
   PUBMED   12185364
  REMARK    GeneRIF: mutant protein lacks the normal transport activity,
            implying that failed deoxynucleotide transport across the inner
            mitochondrial membrane causes Amiah microcephaly (MCPHA)
REFERENCE   8  (bases 1 to 1630)
  AUTHORS   Dolce,V., Fiermonte,G., Runswick,M.J., Palmieri,F. and Walker,J.E.
  TITLE     The human mitochondrial deoxynucleotide carrier and its role in the
            toxicity of nucleoside antivirals
  JOURNAL   Proc Natl Acad Sci U S A 98 (5), 2284-2288 (2001)
   PUBMED   11226231
REFERENCE   9  (bases 1 to 1630)
  AUTHORS   Iacobazzi,V., Ventura,M., Fiermonte,G., Prezioso,G., Rocchi,M. and
            Palmieri,F.
  TITLE     Genomic organization and mapping of the gene (SLC25A19) encoding
            the human mitochondrial deoxynucleotide carrier (DNC)
  JOURNAL   Cytogenet Cell Genet 93 (1-2), 40-42 (2001)
   PUBMED   11474176
REFERENCE   10 (bases 1 to 1630)
  AUTHORS   Tabarki,B., Thabet,F. and Alfadhel,M.
  TITLE     SLC25A19-Related Thiamine Metabolism Dysfunction
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301539
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB482052.1, BM455504.1,
            AL833387.1 and AA743427.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001126121.1.
            
            Summary: This gene encodes a mitochondrial protein that is a member
            of the solute carrier family. Although this protein was initially
            thought to be the mitochondrial deoxynucleotide carrier involved in
            the uptake of deoxynucleotides into the matrix of the mitochondria,
            further studies have demonstrated that this protein instead
            functions as the mitochondrial thiamine pyrophosphate carrier,
            which transports thiamine pyrophosphates into mitochondria.
            Mutations in this gene cause microcephaly, Amish type, a metabolic
            disease that results in severe congenital microcephaly, severe
            2-ketoglutaric aciduria, and death within the first year. Multiple
            alternatively spliced variants, encoding the same protein, have
            been identified for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. Variants 1, 2 and 3 encode the same protein.
            
            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 :: SRR1163657.224450.1,
                                           SRR1803613.277003.1 [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                 :: ENST00000416858.7/
                                                  ENSP00000397818.2
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-53                DB482052.1         17-69
            54-80               BM455504.1         4-30
            81-546              AL833387.1         48-513
            547-792             BM455504.1         81-326
            793-1172            AL833387.1         760-1139
            1173-1185           AA743427.1         465-477             c
            1186-1630           AL833387.1         1153-1597
FEATURES             Location/Qualifiers
     source          1..1630
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..1630
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /note="solute carrier family 25 member 19"
                     /db_xref="GeneID:60386"
                     /db_xref="HGNC:HGNC:14409"
                     /db_xref="MIM:606521"
     exon            1..80
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     exon            81..170
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     exon            171..340
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..1171
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /note="mitochondrial uncoupling protein 1; solute carrier
                     family 25 (mitochondrial deoxynucleotide carrier), member
                     19; solute carrier family 25 (mitochondrial thiamine
                     pyrophosphate carrier), member 19; Deoxynucleotide
                     carrier; mitochondrial thiamine pyrophosphate transporter"
                     /codon_start=1
                     /product="mitochondrial thiamine pyrophosphate carrier"
                     /protein_id="NP_001119593.1"
                     /db_xref="CCDS:CCDS11720.1"
                     /db_xref="GeneID:60386"
                     /db_xref="HGNC:HGNC:14409"
                     /db_xref="MIM:606521"
                     /translation="MVGYDPKPDGRNNTKFQVAVAGSVSGLVTRALISPFDVIKIRFQ
                     LQHERLSRSDPSAKYHGILQASRQILQEEGPTAFWKGHVPAQILSIGYGAVQFLSFEM
                     LTELVHRGSVYDAREFSVHFVCGGLAACMATLTVHPVDVLRTRFAAQGEPKVYNTLRH
                     AVGTMYRSEGPQVFYKGLAPTLIAIFPYAGLQFSCYSSLKHLYKWAIPAEGKKNENLQ
                     NLLCGSGAGVISKTLTYPLDLFKKRLQVGGFEHARAAFGQVRRYKGLMDCAKQVLQKE
                     GALGFFKGLSPSLLKAALSTGFMFFSYEFFCNVFHCMNRTASQR"
     exon            341..496
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     exon            497..667
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     exon            668..851
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     exon            852..982
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1630
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /note="hexamer: ATTAAA"
     polyA_site      1630
                     /gene="SLC25A19"
                     /gene_synonym="DNC; MCPHA; MTPPT; MUP1; THMD3; THMD4; TPC"
                     /note="major polyA site"
ORIGIN      
        1 agtagagttt tgctgttaag actgcgcgag gagctagaga gagcggagag cgctgagccg
       61 ggccgcaccc gccgagccgt cccttctccc tgtgatcagt taccaactac ctgttgatgt
      121 gtgtggttac agacttcttt ctatgctttg tacaactcta cagaccgtat cttgatactg
      181 atggacattg tgtgggccag aggcagggat ggttggctat gaccccaaac cagatggcag
      241 gaataacacc aagttccagg tggcagtggc tgggtctgtg tctggacttg ttactcgggc
      301 gctgatcagt cccttcgacg tcatcaagat ccgtttccag cttcagcatg agcgcctgtc
      361 tcgcagtgac cccagcgcaa agtaccatgg catcctccag gcctctaggc agattctgca
      421 ggaggagggt ccgacagctt tctggaaagg acacgtccca gctcagattc tctccatagg
      481 ctatggagct gtccaattct tgtcatttga aatgctgacg gagctggtcc acagaggcag
      541 cgtgtatgac gcccgggaat tctcagtgca ctttgtatgt ggtggcctgg ctgcctgtat
      601 ggccaccctc actgtgcacc ccgtggatgt tctgcgcacc cgctttgcag ctcagggtga
      661 gcccaaggtc tataatacgc tgcgccacgc cgtggggacc atgtatagga gcgaaggccc
      721 ccaggttttc tacaaaggct tggctcccac cttgatcgcc atcttcccct acgccgggct
      781 gcagttctct tgctacagct ccttgaagca cctgtacaag tgggccatac cagccgaagg
      841 aaagaaaaat gagaacctcc aaaacctgct ttgtggcagt ggagctggtg tcatcagcaa
      901 gaccctgaca tatccgctgg acctcttcaa gaagcggcta caggttggag ggtttgagca
      961 tgccagagct gcctttggcc aggtacggag atacaagggc ctcatggact gtgccaagca
     1021 ggtgctgcaa aaggaaggcg ccctgggctt cttcaagggc ctgtccccca gcttgctgaa
     1081 ggctgccctc tccacaggct tcatgttctt ctcgtatgaa ttcttctgta atgtcttcca
     1141 ctgcatgaac aggacagcca gccagcgctg agtgcaggaa ggaccccagg tcttccctgg
     1201 aggcagcctc ctgaaggaag gaagattcag tctccactga gaggtgccgt ctggcccttc
     1261 cctgcaggcc agctgcccca agcggggtag cagccttgaa cccacccagc tgggacacca
     1321 ccagaaggtc cagggctctc cccatgagag aatcagaggg aatgcaggac gtggtctatg
     1381 gtgagccaac gacacagtga gaaggagcag gaagttgctg tttctcctct gaccagccca
     1441 cactccaaag gaaacagacg ccatcctaca cctatcagcc ctgcctgcca ggagaacaga
     1501 acacactcct ggtctggatg gggctgctgc ttgagtgcag agggctgcgg taggcccttt
     1561 gcaggagtca ggtccctaca cttggcctgt ttttccaacc tatttaatag acattaaagc
     1621 taaacacaca
//
