LOCUS       NM_030780               2891 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 32 (SLC25A32),
            transcript variant 1, mRNA.
ACCESSION   NM_030780
VERSION     NM_030780.5
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 2891)
  AUTHORS   Xue,Z., Wang,J., Wang,Z., Liu,J., Zhao,J., Liu,X., Zhang,Y.,
            Liu,G., Zhao,Z., Li,W., Zhang,Q., Li,X., Huang,B. and Wang,X.
  TITLE     SLC25A32 promotes malignant progression of glioblastoma by
            activating PI3K-AKT signaling pathway
  JOURNAL   BMC Cancer 23 (1), 589 (2023)
   PUBMED   37365560
  REMARK    GeneRIF: SLC25A32 promotes malignant progression of glioblastoma by
            activating PI3K-AKT signaling pathway.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2891)
  AUTHORS   Al Shamsi,B., Al Murshedi,F., Al Habsi,A. and Al-Thihli,K.
  TITLE     Hypoketotic hypoglycemia without neuromuscular complications in
            patients with SLC25A32 deficiency
  JOURNAL   Eur J Hum Genet 30 (8), 976-979 (2022)
   PUBMED   34764427
  REMARK    GeneRIF: Hypoketotic hypoglycemia without neuromuscular
            complications in patients with SLC25A32 deficiency.
REFERENCE   3  (bases 1 to 2891)
  AUTHORS   Peng,M.Z., Shao,Y.X., Li,X.Z., Zhang,K.D., Cai,Y.N., Lin,Y.T.,
            Jiang,M.Y., Liu,Z.C., Su,X.Y., Zhang,W., Jiang,X.L. and Liu,L.
  TITLE     Mitochondrial FAD shortage in SLC25A32 deficiency affects
            folate-mediated one-carbon metabolism
  JOURNAL   Cell Mol Life Sci 79 (7), 375 (2022)
   PUBMED   35727412
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2891)
  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 2891)
  AUTHORS   Kim,J., Lei,Y., Guo,J., Kim,S.E., Wlodarczyk,B.J., Cabrera,R.M.,
            Lin,Y.L., Nilsson,T.K., Zhang,T., Ren,A., Wang,L., Yuan,Z.,
            Zheng,Y.F., Wang,H.Y. and Finnell,R.H.
  TITLE     Formate rescues neural tube defects caused by mutations in Slc25a32
  JOURNAL   Proc Natl Acad Sci U S A 115 (18), 4690-4695 (2018)
   PUBMED   29666258
  REMARK    GeneRIF: These data demonstrate that the loss of functional
            Slc25a32 results in cranial neural tube defects (NTDs) in mice and
            has also been observed in a human NTD patient.
REFERENCE   6  (bases 1 to 2891)
  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   7  (bases 1 to 2891)
  AUTHORS   Hull,M.L., Nemeth,D., Hague,W.M., Wilkinson,C., Liebelt,J., Lane,M.
            and Feil,D.
  TITLE     Mitochondrial fatty acid transport enzyme deficiency--implications
            for in vitro fertilization
  JOURNAL   Fertil Steril 91 (6), 2732 (2009)
   PUBMED   19362304
  REMARK    GeneRIF: Patient with SLC25A32 deficiency was able to have a
            successful pregnancy after fertilization in vitro.
REFERENCE   8  (bases 1 to 2891)
  AUTHORS   Spaan,A.N., Ijlst,L., van Roermund,C.W., Wijburg,F.A., Wanders,R.J.
            and Waterham,H.R.
  TITLE     Identification of the human mitochondrial FAD transporter and its
            potential role in multiple acyl-CoA dehydrogenase deficiency
  JOURNAL   Mol Genet Metab 86 (4), 441-447 (2005)
   PUBMED   16165386
REFERENCE   9  (bases 1 to 2891)
  AUTHORS   McCarthy,E.A., Titus,S.A., Taylor,S.M., Jackson-Cook,C. and
            Moran,R.G.
  TITLE     A mutation inactivating the mitochondrial inner membrane folate
            transporter creates a glycine requirement for survival of chinese
            hamster cells
  JOURNAL   J Biol Chem 279 (32), 33829-33836 (2004)
   PUBMED   15140890
REFERENCE   10 (bases 1 to 2891)
  AUTHORS   Titus,S.A. and Moran,R.G.
  TITLE     Retrovirally mediated complementation of the glyB phenotype.
            Cloning of a human gene encoding the carrier for entry of folates
            into mitochondria
  JOURNAL   J Biol Chem 275 (47), 36811-36817 (2000)
   PUBMED   10978331
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB087013.1, BC021893.1 and
            AF283645.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_030780.4.
            
            Summary: This gene encodes a member of the P(I/L)W subfamily of
            mitochondrial carrier family transport proteins. The encoded
            protein transports folate across the inner mitochondrial membrane.
            Alternatively spliced transcript variants have been described.
            [provided by RefSeq, Mar 2013].
            
            Transcript Variant: This variant (1) encodes the functional
            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 :: BC021893.1, SRR1660807.147878.1
                                           [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                 :: ENST00000297578.9/
                                                  ENSP00000297578.4
            RefSeq Select criteria             :: based on single
                                                  protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                DB087013.1         229-292
            65-1281             BC021893.1         1-1217
            1282-2563           AF283645.1         1240-2521
            2564-2891           BC021893.1         2499-2826
FEATURES             Location/Qualifiers
     source          1..2891
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q22.3"
     gene            1..2891
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /note="solute carrier family 25 member 32"
                     /db_xref="GeneID:81034"
                     /db_xref="HGNC:HGNC:29683"
                     /db_xref="MIM:138480"
     exon            1..324
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     CDS             171..1118
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /note="mitochondrial folate transporter/carrier; solute
                     carrier family 25 (mitochondrial folate carrier), member
                     32; glycine B complementing; Glycine auxotroph B,
                     complementation of hamster; mitochondrial FAD transporter"
                     /codon_start=1
                     /product="solute carrier family 25 member 32"
                     /protein_id="NP_110407.2"
                     /db_xref="CCDS:CCDS6300.1"
                     /db_xref="GeneID:81034"
                     /db_xref="HGNC:HGNC:29683"
                     /db_xref="MIM:138480"
                     /translation="MTGQGQSASGSSAWSTVFRHVRYENLIAGVSGGVLSNLALHPLD
                     LVKIRFAVSDGLELRPKYNGILHCLTTIWKLDGLRGLYQGVTPNIWGAGLSWGLYFFF
                     YNAIKSYKTEGRAERLEATEYLVSAAEAGAMTLCITNPLWVTKTRLMLQYDAVVNSPH
                     RQYKGMFDTLVKIYKYEGVRGLYKGFVPGLFGTSHGALQFMAYELLKLKYNQHINRLP
                     EAQLSTVEYISVAALSKIFAVAATYPYQVVRARLQDQHMFYSGVIDVITKTWRKEGVG
                     GFYKGIAPNLIRVTPACCITFVVYENVSHFLLDLREKRK"
     exon            325..475
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     exon            476..561
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     exon            562..722
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     exon            723..836
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     exon            837..982
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     exon            983..2891
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2543..2548
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /note="hexamer: AATAAA"
     polyA_site      2567
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /note="major polyA site"
     regulatory      2859..2864
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /note="hexamer: AATAAA"
     polyA_site      2891
                     /gene="SLC25A32"
                     /gene_synonym="GLYB; MFT; MFTC; RREI"
                     /note="major polyA site"
ORIGIN      
        1 agtactagag tctccggctt cgctcacgcg ccttgggcat aagagtcctc tcgttggtcc
       61 cggaggtggg gttgcgctca caaggggcga ccgtcgccac ggtggcggcc actgcatcgc
      121 gtcccacctc cgcggccctg ggcgccgtgg tgtcgacggg ccccgagcct atgacgggcc
      181 agggccagtc ggcgtccggg tcgtcggcgt ggagcacggt attccgccac gtccggtatg
      241 agaacctgat agcgggcgtg agcggcggcg tcttatccaa ccttgcgctg catccgctcg
      301 acctcgtgaa gatccgcttc gccgtgagtg atggattgga actgagaccg aaatataatg
      361 gaattttaca ttgcttgact accatttgga aacttgatgg actacgggga ctttatcaag
      421 gagtaacccc aaatatatgg ggtgcaggtt tatcctgggg actctacttt ttcttttaca
      481 atgccatcaa gtcatataaa acagaaggaa gagctgaacg tttagaggca acagaatacc
      541 ttgtctcagc tgctgaagct ggagccatga ccctctgcat tacaaaccca ttatgggtaa
      601 caaaaactcg ccttatgtta cagtatgatg ctgttgttaa ctccccacac cgacaatata
      661 aaggaatgtt tgatacactt gtgaaaatat ataagtatga aggtgtgcgt ggattatata
      721 agggatttgt tcctgggctg tttggaacat cgcatggtgc ccttcagttt atggcatatg
      781 aattgctgaa gttgaagtac aaccagcata tcaatagatt accagaagcc cagttgagca
      841 cagtagaata tatatctgtt gcagcactat ccaaaatatt tgctgtcgca gcaacatacc
      901 catatcaagt cgtaagagct cgtcttcagg atcaacacat gttttacagt ggtgtaatag
      961 atgtaatcac aaagacatgg aggaaagaag gcgtcggtgg attttacaag ggaattgctc
     1021 ctaatttgat tagagtgact ccagcctgct gtattacctt tgtggtatat gaaaacgtct
     1081 cacatttttt acttgacctt agagaaaaga gaaagtaagc tcaaagagga caattccagt
     1141 atatctgccc aaggcagcaa caagctcttt tgtgtttaag gcataaaaga agaattctgc
     1201 atagaaacat ggctcatatt cgaaattgct ctatagtcat tagaagccag agaactgcta
     1261 agtctcctgc aatgtttttc ttgctttttg ccttccccat atatatggaa cttggctacc
     1321 tctgcctgaa atggctgcca tcaacacaat gttaaaactg acacgaagga tagagtttca
     1381 cagatttcta cgttttattg gtggaagctg atttgcaaca tttgctaaat ggattagatg
     1441 aatgtacttc tttttgtgag cttacttgcc tggattgctt taaaattaac ctttgtgcaa
     1501 taccaagaaa atagctcttt aaaagaatgt ctttgtatgt ctcaaggtaa attaaggatt
     1561 tactgaataa ggtgttgacc aaatccagac cattttattt tattttttta tttatttatt
     1621 ttttgagatg gagtcttgct ttgtcgccca ggctggagtg cagtggcgtg atctcagctc
     1681 actgcaacct ccacctcccg ggttcacgcc attctcctgc ctcagcctcc tgagtagctg
     1741 ggactacagg cacctgccac cacgcctggc taactttttt ttatattttg agtagaaatg
     1801 gggtttcacc atgttagcca ggatggtctc aatctcctga ccttgtgatc cgcctgcctt
     1861 ggcctcccaa agtgctggga ttacaggcgt gagccactgc gcctggccag accattttag
     1921 aattgggaaa ttttagtgag aaaaaatgca ctgtaaatat gctttagttt taattcagtt
     1981 gggatgcact acctagcgaa aattgagaaa ctatatactt ctcagagaaa tatctgacat
     2041 ctattgtcat tccattgcta ttttttttcc ccagagactt ccataattta aaataaaatc
     2101 ctagatccag ttcttgtttt ttggcataaa tacttaatct attttaaatt tataaaatct
     2161 gagcttctag gatccagctg tgtcaacctt tatttagcat atataactat aaatcactta
     2221 ttacagatgc taaatagatc accttttaca gatgctgaaa tgtttgggat atgtttgttg
     2281 acaaggtaaa tggaaatgag aaactttata cttcagtttt cagatatatg gatctagatc
     2341 ccaaataaat gattaatctt cattggtttc tcaaattcag gttgaaatac aaattaatag
     2401 cctttattga ttttactttt atgagtcatt gtagacatct ataaatataa aagggcctgt
     2461 acccaaagga tgccagaata ctagtatttt tatttatcgt aaacatccac gagtgctgtt
     2521 gcactaccat ctatttgttg taaataaaag tgttgttttc aaagccatct ttaaatagtt
     2581 ctttaaaaat aggtcttttt tttatatttt ggaaaaggca ttgtttttaa agtaaagata
     2641 aaatggtaag tacctaattg tatttactgt aatatcttat aacatgcaga tgaatgcttt
     2701 ataagttaaa tatgatgtat tttttcatac ttctggatta tactataatt catatgaaat
     2761 cttgatatta gtccccacac ggaaaaagtg aactgcagtt gatatttggt gtttaagata
     2821 gcaccattgt ttaaataccg cctatgtact cccaaatgaa taaaacataa ttcttgtcct
     2881 ctgagagcat a
//
