LOCUS       NM_000637               3034 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens glutathione-disulfide reductase (GSR), transcript
            variant 1, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_000637
VERSION     NM_000637.5
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 3034)
  AUTHORS   Vyas,B., Bhowmik,R., Akhter,M. and Ahmad,F.J.
  TITLE     Identification, analysis of deleterious SNPs of the human GSR gene
            and their effects on the structure and functions of associated
            proteins and other diseases
  JOURNAL   Sci Rep 12 (1), 5474 (2022)
   PUBMED   35361806
  REMARK    GeneRIF: Identification, analysis of deleterious SNPs of the human
            GSR gene and their effects on the structure and functions of
            associated proteins and other diseases.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3034)
  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 3034)
  AUTHORS   Zhang,C. and Zhao,D.
  TITLE     MicroRNA-362-5p promotes the proliferation and inhibits apoptosis
            of trophoblast cells via targeting glutathione-disulfide reductase
  JOURNAL   Bioengineered 12 (1), 2410-2419 (2021)
   PUBMED   34107852
  REMARK    GeneRIF: MicroRNA-362-5p promotes the proliferation and inhibits
            apoptosis of trophoblast cells via targeting glutathione-disulfide
            reductase.
REFERENCE   4  (bases 1 to 3034)
  AUTHORS   Lorestani,S., Bahari,A., Asadi,M. and Zahedi Avval,F.
  TITLE     Evaluation of glutathione reductase activity in colon tissue of
            patients with irritable bowel syndrome
  JOURNAL   Horm Mol Biol Clin Investig 42 (2), 195-198 (2021)
   PUBMED   34090318
  REMARK    GeneRIF: Evaluation of glutathione reductase activity in colon
            tissue of patients with irritable bowel syndrome.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3034)
  AUTHORS   Wang,Y.N., Lu,Y.X., Liu,J., Jin,Y., Bi,H.C., Zhao,Q., Liu,Z.X.,
            Li,Y.Q., Hu,J.J., Sheng,H., Jiang,Y.M., Zhang,C., Tian,F., Chen,Y.,
            Pan,Z.Z., Chen,G., Zeng,Z.L., Liu,K.Y., Ogasawara,M., Yun,J.P.,
            Ju,H.Q., Feng,J.X., Xie,D., Gao,S., Jia,W.H., Kopetz,S., Xu,R.H.
            and Wang,F.
  TITLE     AMPKalpha1 confers survival advantage of colorectal cancer cells
            under metabolic stress by promoting redox balance through the
            regulation of glutathione reductase phosphorylation
  JOURNAL   Oncogene 39 (3), 637-650 (2020)
   PUBMED   31530934
  REMARK    GeneRIF: AMPKalpha1 is overexpressed in colorectal cancer (CRC)
            patient specimens and the high expression is correlated with poor
            survival. AMPKalpha1 maintains high level of reduced glutathione to
            keep redox homeostasis under stress conditions, thus promoting CRC
            cell survival. Mechanistically, AMPKalpha1 regulate the glutathione
            reductase (GSR) phosphorylation possibly through residue Thr507
            which enhances its activity.
REFERENCE   6  (bases 1 to 3034)
  AUTHORS   Kelner,M.J. and Montoya,M.A.
  TITLE     Structural organization of the human glutathione reductase gene:
            determination of correct cDNA sequence and identification of a
            mitochondrial leader sequence
  JOURNAL   Biochem Biophys Res Commun 269 (2), 366-368 (2000)
   PUBMED   10708558
REFERENCE   7  (bases 1 to 3034)
  AUTHORS   Tutic,M., Lu,X.A., Schirmer,R.H. and Werner,D.
  TITLE     Cloning and sequencing of mammalian glutathione reductase cDNA
  JOURNAL   Eur J Biochem 188 (3), 523-528 (1990)
   PUBMED   2185014
REFERENCE   8  (bases 1 to 3034)
  AUTHORS   Krohne-Ehrich,G., Schirmer,R.H. and Untucht-Grau,R.
  TITLE     Glutathione reductase from human erythrocytes. Isolation of the
            enzyme and sequence analysis of the redox-active peptide
  JOURNAL   Eur J Biochem 80 (1), 65-71 (1977)
   PUBMED   923580
REFERENCE   9  (bases 1 to 3034)
  AUTHORS   Sinet,P.M., Bresson,J.L., Couturier,J., Laurent,C., Prieur,M.,
            Rethore,M.O., Taillemite,J.L., Toudic,D., Jerome,H. and Lejeune,J.
  TITLE     [Possible localization of the glutathione reductase (EC 1.6.4.2) on
            the 8p21 band]
  JOURNAL   Ann Genet 20 (1), 13-17 (1977)
   PUBMED   302667
REFERENCE   10 (bases 1 to 3034)
  AUTHORS   Loos,H., Roos,D., Weening,R. and Houwerzijl,J.
  TITLE     Familial deficiency of glutathione reductase in human blood cells
  JOURNAL   Blood 48 (1), 53-62 (1976)
   PUBMED   947404
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC069244.1, AC103959.18 and
            CA944703.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000637.4.
            
            Summary: This gene encodes a member of the class-I pyridine
            nucleotide-disulfide oxidoreductase family. This enzyme is a
            homodimeric flavoprotein. It is a central enzyme of cellular
            antioxidant defense, and reduces oxidized glutathione disulfide
            (GSSG) to the sulfhydryl form GSH, which is an important cellular
            antioxidant. Rare mutations in this gene result in hereditary
            glutathione reductase deficiency. Multiple alternatively spliced
            transcript variants encoding different isoforms have been found.
            [provided by RefSeq, Aug 2010].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC035691.1, FJ224321.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: PMID: 10708558; reported by
                                                  MitoCarta
            MANE Ensembl match                 :: ENST00000221130.11/
                                                  ENSP00000221130.5
            RefSeq Select criteria             :: based on conservation,
                                                  expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1651              BC069244.1         81-1731
            1652-2957           AC103959.18        94712-96017         c
            2958-3034           CA944703.1         18-94               c
FEATURES             Location/Qualifiers
     source          1..3034
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..3034
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /note="glutathione-disulfide reductase"
                     /db_xref="GeneID:2936"
                     /db_xref="HGNC:HGNC:4623"
                     /db_xref="MIM:138300"
     exon            1..317
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..1580
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /EC_number="1.8.1.7"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; glutathione reductase, mitochondrial;
                     glutathione S-reductase; epididymis luminal protein 75;
                     GRase; epididymis secretory sperm binding protein Li 122m"
                     /codon_start=1
                     /product="glutathione reductase, mitochondrial isoform 1
                     precursor"
                     /protein_id="NP_000628.2"
                     /db_xref="CCDS:CCDS34877.1"
                     /db_xref="GeneID:2936"
                     /db_xref="HGNC:HGNC:4623"
                     /db_xref="MIM:138300"
                     /translation="MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAM
                     ACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASARRAAELGARAAVVESHKLGGTC
                     VNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN
                     NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLG
                     ITSDGFFQLEELPGRSVIVGAGYIAVEMAGILSALGSKTSLMIRHDKVLRSFDSMIST
                     NCTEELENAGVEVLKFSQVKEVKKTLSGLEVSMVTAVPGRLPVMTMIPDVDCLLWAIG
                     RVPNTKDLSLNKLGIQTDDKGHIIVDEFQNTNVKGIYAVGDVCGKALLTPVAIAAGRK
                     LAHRLFEYKEDSKLDYNNIPTVVFSHPPIGTVGLTEDEAIHKYGIENVKTYSTSFTPM
                     YHAVTKRKTKCVMKMVCANKEEKVVGIHMQGLGCDEMLQGFAVAVKMGATKADFDNTV
                     AIHPTSSEELVTLR"
     exon            318..344
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            345..433
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            434..503
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            504..651
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            652..706
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            707..806
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            807..893
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            894..1052
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1164
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1296
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1430
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..3034
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3009..3014
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /note="hexamer: AATAAA"
     polyA_site      3034
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /note="major polyA site"
ORIGIN      
        1 cttccgcgtg catggccctg ctgccccgag ccctgagcgc cggcgcggga ccgagctggc
       61 ggcgggcggc gcgcgccttc cgaggcttcc tgctgcttct gcccgagccc gcggccctca
      121 cgcgcgccct ctcccgtgcc atggcctgca ggcaggagcc gcagccgcag ggcccgccgc
      181 ccgctgctgg cgccgtggcc tcctatgact acctggtgat cgggggcggc tcgggcgggc
      241 tggccagcgc gcgcagggcg gccgagctgg gtgccagggc cgccgtggtg gagagccaca
      301 agctgggtgg cacttgcgtg aatgttggat gtgtacccaa aaaggtaatg tggaacacag
      361 ctgtccactc tgaattcatg catgatcatg ctgattatgg ctttccaagt tgtgagggta
      421 aattcaattg gcgtgttatt aaggaaaagc gggatgccta tgtgagccgc ctgaatgcca
      481 tctatcaaaa caatctcacc aagtcccata tagaaatcat ccgtggccat gcagccttca
      541 cgagtgatcc caagcccaca atagaggtca gtgggaaaaa gtacaccgcc ccacacatcc
      601 tgatcgccac aggtggtatg ccctccaccc ctcatgagag ccagatcccc ggtgccagct
      661 taggaataac cagcgatgga ttttttcagc tggaagaatt gcccggccgc agcgtcattg
      721 ttggtgcagg ttacattgct gtggagatgg cagggatcct gtcagccctg ggttctaaga
      781 catcactgat gatacggcat gataaggtac ttagaagttt tgattcaatg atcagcacca
      841 actgcacgga ggagctggag aacgctggcg tggaggtgct gaagttctcc caggtcaagg
      901 aggttaaaaa gactttgtcg ggcttggaag tcagcatggt tactgcagtt cccggtaggc
      961 taccagtcat gaccatgatt ccagatgttg actgcctgct ctgggccatt gggcgggtcc
     1021 cgaataccaa ggacctgagt ttaaacaaac tggggattca aaccgatgac aagggtcata
     1081 tcatcgtaga cgaattccag aataccaacg tcaaaggcat ctatgcagtt ggggatgtat
     1141 gtggaaaagc tcttcttact ccagttgcaa tagctgctgg ccgaaaactt gcccatcgac
     1201 tttttgaata taaggaagat tccaaattag attataacaa catcccaact gtggtcttca
     1261 gccacccccc tattgggaca gtgggactca cggaagatga agccattcat aaatatggaa
     1321 tagaaaatgt gaagacctat tcaacgagct ttaccccgat gtatcacgca gttaccaaaa
     1381 ggaaaacaaa atgtgtgatg aaaatggtct gtgctaacaa ggaagaaaag gtggttggga
     1441 tccatatgca gggacttggg tgtgatgaaa tgctgcaggg ttttgctgtt gcagtgaaga
     1501 tgggagcaac gaaggcagac tttgacaaca cagtcgccat tcaccctacc tcttcagaag
     1561 agctggtcac acttcgttga gaaccaggag acacgtgtgg cgggcagtgg gacccataga
     1621 tcttctgaaa tgaaacaaat aatcacattg acttactgtt tgagttttat gtatttcttt
     1681 attttaatca ggatcttctg atagtggaaa tttttagtac ataatagaac ttatttatgg
     1741 agttagaaat ttgtagtgtt atccaggatt gattttcatt tgatcacatc tcacagtaat
     1801 taatattttc aagttttttt tttattaaca gctctgtgct agtttttttt ttctgtttta
     1861 gcctcatccc aaatataaag ctttgtgaag tacaattaac ttaatgtact tgaatgaata
     1921 gaacttgcta cttttttttt tttttttttt gagacagagt tttgctctca ttgcccaggc
     1981 tggagtgcgg tggtgctatt tcagctcacc acaacctctg cctcctgggt tcaagtgatt
     2041 ctcctgcctt agcctcccga atagctggaa ttacaggcac gcaccaccat gcctgactaa
     2101 ttttgtattt ttagtagaca tggggtttct ccatgttggt caggctggtc tcaaactccc
     2161 accttcaggt gatccgccca cctcggcctc ctgaggtgct gagattacag gcgtgagcca
     2221 ctgtgccagc ttgctaattt tcacagaagt tgatggcaat tcttcacatg taaacagtgc
     2281 cagtgcacag aacctttata tattttttga agccagtact gtgctctgca tataacaaag
     2341 ctgcttcaag gatgagacct ttttctaaaa gcatgtaatg tgagaagccg gcctgcctta
     2401 ttttcttttt tcttttttaa tgattaaaaa tagtttgtgg caaggcacgg tggctcaggc
     2461 ctgtaattct agcactttgg gaggccgagg caggaggatt acttgagcct acaagtttga
     2521 ggccagcatg cacagcatag caagactgca tctctacaga gagtaaaaaa aattacccga
     2581 gtgtggtgat gtgcatctgt aatctcagct acttgggagg ctgaggtgag aggatcactt
     2641 gagcttgggt gaggtgaggc tgcagtgagt cctgatcatg ctgctgcact caatcttgga
     2701 caacagagca agaccctgtc tcaaaaaaaa aaaaaaaaaa tatatatata tatatatatt
     2761 atttttatga ggtgaagtgc atcaaacttg ggaaagattt gaggaggctg ggaacctcct
     2821 ggaaaaccac tccttgaaga aagatatgag agacatttag aagtgattcc tgctttcaga
     2881 aggaggtgga ttcaaataca tcaaaagtcc cttcctctgc taagtgttta tagttcaatg
     2941 aataatttca atatttgtat gtgttcttgt cattttattt ttttctgaaa aacttccaaa
     3001 aatttgaaaa taaaattaca gccttttctt ctta
//
