LOCUS       NM_001195102            2947 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens glutathione-disulfide reductase (GSR), transcript
            variant 2, mRNA; nuclear gene for mitochondrial product.
ACCESSION   NM_001195102
VERSION     NM_001195102.3
KEYWORDS    RefSeq.
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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 2947)
  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 BM148117.1, AB519179.1,
            AC103959.18 and CA944703.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001195102.2.
            
            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 (2, also known as delta8) lacks an
            in-frame coding exon, as compared to variant 1. The resulting
            isoform (2) lacks an internal segment, as compared to 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 :: AB519179.1, SRR14038193.2385202.1
                                           [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
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BM148117.1         125-135
            12-1493             AB519179.1         1-1482
            1494-2870           AC103959.18        94712-96088         c
            2871-2947           CA944703.1         18-94               c
FEATURES             Location/Qualifiers
     source          1..2947
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p12"
     gene            1..2947
                     /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..1493
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /EC_number="1.8.1.7"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001182031.1"
                     /db_xref="CCDS:CCDS56531.1"
                     /db_xref="GeneID:2936"
                     /db_xref="HGNC:HGNC:4623"
                     /db_xref="MIM:138300"
                     /translation="MALLPRALSAGAGPSWRRAARAFRGFLLLLPEPAALTRALSRAM
                     ACRQEPQPQGPPPAAGAVASYDYLVIGGGSGGLASARRAAELGARAAVVESHKLGGTC
                     VNVGCVPKKVMWNTAVHSEFMHDHADYGFPSCEGKFNWRVIKEKRDAYVSRLNAIYQN
                     NLTKSHIEIIRGHAAFTSDPKPTIEVSGKKYTAPHILIATGGMPSTPHESQIPGASLG
                     ITSDGFFQLEELPGRSVIVGAGYIAVEMAGILSALGSKTSLMIRHDKVKEVKKTLSGL
                     EVSMVTAVPGRLPVMTMIPDVDCLLWAIGRVPNTKDLSLNKLGIQTDDKGHIIVDEFQ
                     NTNVKGIYAVGDVCGKALLTPVAIAAGRKLAHRLFEYKEDSKLDYNNIPTVVFSHPPI
                     GTVGLTEDEAIHKYGIENVKTYSTSFTPMYHAVTKRKTKCVMKMVCANKEEKVVGIHM
                     QGLGCDEMLQGFAVAVKMGATKADFDNTVAIHPTSSEELVTLR"
     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..965
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            966..1077
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1078..1209
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1210..1343
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..2947
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2922..2927
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSR"
                     /gene_synonym="CNSHA10; GR; GSRD; HEL-75; HEL-S-122m"
                     /note="hexamer: AATAAA"
     polyA_site      2947
                     /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 gataaggtca aggaggttaa aaagactttg tcgggcttgg
      841 aagtcagcat ggttactgca gttcccggta ggctaccagt catgaccatg attccagatg
      901 ttgactgcct gctctgggcc attgggcggg tcccgaatac caaggacctg agtttaaaca
      961 aactggggat tcaaaccgat gacaagggtc atatcatcgt agacgaattc cagaatacca
     1021 acgtcaaagg catctatgca gttggggatg tatgtggaaa agctcttctt actccagttg
     1081 caatagctgc tggccgaaaa cttgcccatc gactttttga atataaggaa gattccaaat
     1141 tagattataa caacatccca actgtggtct tcagccaccc ccctattggg acagtgggac
     1201 tcacggaaga tgaagccatt cataaatatg gaatagaaaa tgtgaagacc tattcaacga
     1261 gctttacccc gatgtatcac gcagttacca aaaggaaaac aaaatgtgtg atgaaaatgg
     1321 tctgtgctaa caaggaagaa aaggtggttg ggatccatat gcagggactt gggtgtgatg
     1381 aaatgctgca gggttttgct gttgcagtga agatgggagc aacgaaggca gactttgaca
     1441 acacagtcgc cattcaccct acctcttcag aagagctggt cacacttcgt tgagaaccag
     1501 gagacacgtg tggcgggcag tgggacccat agatcttctg aaatgaaaca aataatcaca
     1561 ttgacttact gtttgagttt tatgtatttc tttattttaa tcaggatctt ctgatagtgg
     1621 aaatttttag tacataatag aacttattta tggagttaga aatttgtagt gttatccagg
     1681 attgattttc atttgatcac atctcacagt aattaatatt ttcaagtttt ttttttatta
     1741 acagctctgt gctagttttt tttttctgtt ttagcctcat cccaaatata aagctttgtg
     1801 aagtacaatt aacttaatgt acttgaatga atagaacttg ctactttttt tttttttttt
     1861 tttgagacag agttttgctc tcattgccca ggctggagtg cggtggtgct atttcagctc
     1921 accacaacct ctgcctcctg ggttcaagtg attctcctgc cttagcctcc cgaatagctg
     1981 gaattacagg cacgcaccac catgcctgac taattttgta tttttagtag acatggggtt
     2041 tctccatgtt ggtcaggctg gtctcaaact cccaccttca ggtgatccgc ccacctcggc
     2101 ctcctgaggt gctgagatta caggcgtgag ccactgtgcc agcttgctaa ttttcacaga
     2161 agttgatggc aattcttcac atgtaaacag tgccagtgca cagaaccttt atatattttt
     2221 tgaagccagt actgtgctct gcatataaca aagctgcttc aaggatgaga cctttttcta
     2281 aaagcatgta atgtgagaag ccggcctgcc ttattttctt ttttcttttt taatgattaa
     2341 aaatagtttg tggcaaggca cggtggctca ggcctgtaat tctagcactt tgggaggccg
     2401 aggcaggagg attacttgag cctacaagtt tgaggccagc atgcacagca tagcaagact
     2461 gcatctctac agagagtaaa aaaaattacc cgagtgtggt gatgtgcatc tgtaatctca
     2521 gctacttggg aggctgaggt gagaggatca cttgagcttg ggtgaggtga ggctgcagtg
     2581 agtcctgatc atgctgctgc actcaatctt ggacaacaga gcaagaccct gtctcaaaaa
     2641 aaaaaaaaaa aaatatatat atatatatat attattttta tgaggtgaag tgcatcaaac
     2701 ttgggaaaga tttgaggagg ctgggaacct cctggaaaac cactccttga agaaagatat
     2761 gagagacatt tagaagtgat tcctgctttc agaaggaggt ggattcaaat acatcaaaag
     2821 tcccttcctc tgctaagtgt ttatagttca atgaataatt tcaatatttg tatgtgttct
     2881 tgtcatttta tttttttctg aaaaacttcc aaaaatttga aaataaaatt acagcctttt
     2941 cttctta
//
