LOCUS       NM_017875               2101 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens solute carrier family 25 member 38 (SLC25A38),
            transcript variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_017875
VERSION     NM_017875.4
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 2101)
  AUTHORS   Fan,Z., Duan,J., Luo,P., Shao,L., Chen,Q., Tan,X., Zhang,L. and
            Xu,X.
  TITLE     SLC25A38 as a novel biomarker for metastasis and clinical outcome
            in uveal melanoma
  JOURNAL   Cell Death Dis 13 (4), 330 (2022)
   PUBMED   35411037
  REMARK    GeneRIF: SLC25A38 as a novel biomarker for metastasis and clinical
            outcome in uveal melanoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2101)
  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 2101)
  AUTHORS   Heeney,M.M., Berhe,S., Campagna,D.R., Oved,J.H., Kurre,P.,
            Shaw,P.J., Teo,J., Shanap,M.A., Hassab,H.M., Glader,B.E., Shah,S.,
            Yoshimi,A., Ameri,A., Antin,J.H., Boudreaux,J., Briones,M.,
            Dickerson,K.E., Fernandez,C.V., Farah,R., Hasle,H., Keel,S.B.,
            Olson,T.S., Powers,J.M., Rose,M.J., Shimamura,A., Bottomley,S.S.
            and Fleming,M.D.
  TITLE     SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes
            of 31 individuals from 24 families, including 11 novel mutations,
            and a review of the literature
  JOURNAL   Hum Mutat 42 (11), 1367-1383 (2021)
   PUBMED   34298585
  REMARK    GeneRIF: SLC25A38 congenital sideroblastic anemia: Phenotypes and
            genotypes of 31 individuals from 24 families, including 11 novel
            mutations, and a review of the literature.
            Review article
REFERENCE   4  (bases 1 to 2101)
  AUTHORS   Ravindra,N., Athiyarath,R., S,E., S,S., Kulkarni,U., N,A. F,
            Korula,A., Shaji,R.V., George,B. and Edison,E.S.
  TITLE     Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause
            of congenital sideroblastic anaemia in the Indian subcontinent
  JOURNAL   J Clin Pathol 74 (3), 157-162 (2021)
   PUBMED   32605921
  REMARK    GeneRIF: Novel frameshift variant (c.409dupG) in SLC25A38 is a
            common cause of congenital sideroblastic anaemia in the Indian
            subcontinent.
REFERENCE   5  (bases 1 to 2101)
  AUTHORS   Uminski,K., Houston,D.S., Hartley,J.N., Liu,J., Cuvelier,G.D.E. and
            Israels,S.J.
  TITLE     Clinical characterization and hematopoietic stem cell transplant
            outcomes for congenital sideroblastic anemia caused by a novel
            pathogenic variant in SLC25A38
  JOURNAL   Pediatr Blood Cancer 67 (10), e28623 (2020)
   PUBMED   32790119
  REMARK    GeneRIF: Clinical characterization and hematopoietic stem cell
            transplant outcomes for congenital sideroblastic anemia caused by a
            novel pathogenic variant in SLC25A38.
REFERENCE   6  (bases 1 to 2101)
  AUTHORS   Zhang,H., Zhang,Y.W., Chen,Y., Huang,X., Zhou,F., Wang,W., Xian,B.,
            Zhang,X., Masliah,E., Chen,Q., Han,J.D., Bu,G., Reed,J.C.,
            Liao,F.F., Chen,Y.G. and Xu,H.
  TITLE     Appoptosin is a novel pro-apoptotic protein and mediates cell death
            in neurodegeneration
  JOURNAL   J Neurosci 32 (44), 15565-15576 (2012)
   PUBMED   23115192
  REMARK    GeneRIF: Our study identifies appoptosin as a crucial player in
            apoptosis and a novel pro-apoptotic protein involved in neuronal
            cell death.
REFERENCE   7  (bases 1 to 2101)
  AUTHORS   Kannengiesser,C., Sanchez,M., Sweeney,M., Hetet,G., Kerr,B.,
            Moran,E., Fuster Soler,J.L., Maloum,K., Matthes,T., Oudot,C.,
            Lascaux,A., Pondarre,C., Sevilla Navarro,J., Vidyatilake,S.,
            Beaumont,C., Grandchamp,B. and May,A.
  TITLE     Missense SLC25A38 variations play an important role in autosomal
            recessive inherited sideroblastic anemia
  JOURNAL   Haematologica 96 (6), 808-813 (2011)
   PUBMED   21393332
  REMARK    GeneRIF: Mutations in the SLC25A38 gene cause severe,
            non-syndromic, microcytic/hypochromic sideroblastic anemia in many
            populations.
REFERENCE   8  (bases 1 to 2101)
  AUTHORS   Bergmann,A.K., Campagna,D.R., McLoughlin,E.M., Agarwal,S.,
            Fleming,M.D., Bottomley,S.S. and Neufeld,E.J.
  TITLE     Systematic molecular genetic analysis of congenital sideroblastic
            anemia: evidence for genetic heterogeneity and identification of
            novel mutations
  JOURNAL   Pediatr Blood Cancer 54 (2), 273-278 (2010)
   PUBMED   19731322
  REMARK    GeneRIF: Twelve CSA probands had biallelic mutations in SLC25A38
REFERENCE   9  (bases 1 to 2101)
  AUTHORS   Guernsey,D.L., Jiang,H., Campagna,D.R., Evans,S.C., Ferguson,M.,
            Kellogg,M.D., Lachance,M., Matsuoka,M., Nightingale,M., Rideout,A.,
            Saint-Amant,L., Schmidt,P.J., Orr,A., Bottomley,S.S., Fleming,M.D.,
            Ludman,M., Dyack,S., Fernandez,C.V. and Samuels,M.E.
  TITLE     Mutations in mitochondrial carrier family gene SLC25A38 cause
            nonsyndromic autosomal recessive congenital sideroblastic anemia
  JOURNAL   Nat Genet 41 (6), 651-653 (2009)
   PUBMED   19412178
REFERENCE   10 (bases 1 to 2101)
  AUTHORS   Haitina,T., Lindblom,J., Renstrom,T. and Fredriksson,R.
  TITLE     Fourteen novel human members of mitochondrial solute carrier family
            25 (SLC25) widely expressed in the central nervous system
  JOURNAL   Genomics 88 (6), 779-790 (2006)
   PUBMED   16949250
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB113609.1, AK225388.1,
            AK000558.1 and AA760706.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 9, 2018 this sequence version replaced NM_017875.3.
            
            Summary: This gene is a member of the mitochondrial carrier family.
            The encoded protein is required during erythropoiesis and is
            important for the biosynthesis of heme. Mutations in this gene are
            the cause of autosomal congenital sideroblastic anemia (anemia,
            sideroblastic, 2, pyridoxine-refractory). A related pseudogene is
            found on chromosome 1. [provided by RefSeq, Aug 2017].
            
            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 :: AK000558.1, AK225388.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            MANE Ensembl match                 :: ENST00000650617.1/
                                                  ENSP00000497532.1
            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
            1-2                 DB113609.1         47-48
            3-1579              AK225388.1         1-1577
            1580-1981           AK000558.1         1602-2003
            1982-2101           AA760706.1         10-129              c
FEATURES             Location/Qualifiers
     source          1..2101
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..2101
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /note="solute carrier family 25 member 38"
                     /db_xref="GeneID:54977"
                     /db_xref="HGNC:HGNC:26054"
                     /db_xref="MIM:610819"
     exon            1..424
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     CDS             356..1270
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     appoptosin; mitochondrial glycine transporter GlyC"
                     /codon_start=1
                     /product="mitochondrial glycine transporter isoform 1"
                     /protein_id="NP_060345.2"
                     /db_xref="CCDS:CCDS2685.1"
                     /db_xref="GeneID:54977"
                     /db_xref="HGNC:HGNC:26054"
                     /db_xref="MIM:610819"
                     /translation="MIQNSRPSLLQPQDVGDTVETLMLHPVIKAFLCGSISGTCSTLL
                     FQPLDLLKTRLQTLQPSDHGSRRVGMLAVLLKVVRTESLLGLWKGMSPSIVRCVPGVG
                     IYFGTLYSLKQYFLRGHPPTALESVMLGVGSRSVAGVCMSPITVIKTRYESGKYGYES
                     IYAALRSIYHSEGHRGLFSGLTATLLRDAPFSGIYLMFYNQTKNIVPHDQVDATLIPI
                     TNFSCGIFAGILASLVTQPADVIKTHMQLYPLKFQWIGQAVTLIFKDYGLRGFFQGGI
                     PRALRRTLMAAMAWTVYEEMMAKMGLKS"
     exon            425..546
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            547..631
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            632..811
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            812..980
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1147
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..2101
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1981
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /note="major polyA site"
     regulatory      2046..2051
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
                     /note="hexamer: AATAAA"
     polyA_site      2065
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
     polyA_site      2101
                     /gene="SLC25A38"
                     /gene_synonym="SIDBA2"
ORIGIN      
        1 agagttcctc cggcgcttcc tccaccccgg gatacacaga acctcatctc ctacggtgct
       61 gaagcctgca gcagggcagg atgggcagga gagcagagcc gcggagtctg cggcgcgggt
      121 gaagagcggc gcgtaattcc cgcagcaaga ttgttccgcg cccgcagccc ctggactagc
      181 aggatccgaa ccccggcggc tgcgtgctta taggcgcaga cgtcagagag cccgcggctt
      241 aaagcgcgtc gcctggctag cgccaccccc tagccttctt caaggcctcc agggctgggc
      301 ccaagcgccc gtcgacggca ccctgggccc agaggactcg cgggcctcat ctccaatgat
      361 tcagaactca cgtccgtcgc tgctgcaacc ccaagatgtc ggagacacgg tggaaacgct
      421 tatgttacat ccggtgatca aggctttcct gtgtggctcc atcagtggga cctgctctac
      481 cctccttttc caacctctgg atctccttaa aacacgcctg caaaccctcc agccctcaga
      541 tcatgggtct agacgtgttg ggatgttggc tgtactcttg aaggtggttc gcacggagag
      601 tcttttgggc ctttggaaag ggatgtcccc ttccattgtg agatgtgtcc ctggcgttgg
      661 aatctacttt ggcactctct actctttgaa gcagtatttc ttgcgaggcc atcccccaac
      721 cgccctggag tcagtcatgc tgggggtggg ctctcgctct gttgcagggg tctgtatgtc
      781 acctatcact gtaatcaaga cgcgctatga gagtgggaaa tatggctatg agagtatcta
      841 cgctgccctg aggagcatct atcacagtga ggggcaccgg ggcctcttca gtggcctgac
      901 agcaactctc cttcgagatg cgcccttctc aggaatctac ctgatgtttt acaaccagac
      961 caaaaatata gtgcctcatg accaggtgga tgcaaccctt attcctatta caaatttcag
     1021 ctgtgggata tttgctggta ttctggcctc actggtaact caacctgcgg atgttatcaa
     1081 aactcatatg cagctttatc cactgaagtt tcaatggatt ggccaagcag tgacacttat
     1141 tttcaaagac tatggactac gtggcttctt ccaaggtggc atcccccgag ccctccgcag
     1201 aactctaatg gcagcaatgg cgtggacggt gtatgaagag atgatggcca agatgggcct
     1261 gaagtcctga ccaagagagg actgggaacg ggtgaaatct gttgccctgc ttggtttctg
     1321 ccaagggctg ctgcttctta ctattctgca gtaagatgaa gtcctacctg gaaaaccagg
     1381 cagaaattgt gttgcctttg ccttcagtaa tccccttaag gagaaaatat atggacctga
     1441 tttcagcctt cagaatctcc aaaagaggag tcatcaattc atagagcaca ctagggtgtt
     1501 aggagagagc tttgcatact ctgagaggct acttggaaag gcattttccc aggagagctc
     1561 tgtcaggtgg ctgcgcttca gccccacccc tacaccacag ggtctccttg ggtatgttct
     1621 tgggcaagca atcacaaagc cagagaagct gtaagctgcc tgccgggcct gaggagctcc
     1681 aaccagggaa gactggatgt gaggagagga gtcactgtca ccaggtcaca gactgactga
     1741 ggtgatggta ggatgaggag gaacagatgc ccttctttaa ttggttctca gttaacttct
     1801 cagaggctct ggagaacggg acagtggctt tctagcctct gaatgttcca aataaaattt
     1861 tttggtcttg gcccctgtac tgttttacct ctaaattctg gcattttttt ttccctgcaa
     1921 ttaaagtgct gtactttatt tattgaactt tatcattgaa agctgtttgg aaaacctaaa
     1981 agatgttgtc acacttctgt tttctttacc tgtgccttat aaaaatggac caaacccttt
     2041 tctaaaataa aatagttcta gggtggctgg ttattgacct atgtaggtcc ctaaaaccta
     2101 a
//
