LOCUS       NM_001322494            2004 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens glutathione synthetase (GSS), transcript variant 2,
            mRNA.
ACCESSION   NM_001322494 XM_011528796
VERSION     NM_001322494.1
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 2004)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2004)
  AUTHORS   Angelova,S., Salim,A., Kiselova-Kaneva,Y., Ivanova,D. and Peev,S.
  TITLE     Association of mRNA Levels of IL6, MMP-8, GSS in Saliva and
            Pyelonephritis in Children
  JOURNAL   Molecules 25 (1), 85 (2019)
   PUBMED   31881666
  REMARK    GeneRIF: Salivary IL-6, MMP-8 and GSS mRNA levels in combination
            with urine test analysis could be useful diagnostic tool for the
            very distributed disorder of pyelonephritis in childhood.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2004)
  AUTHORS   Strohkamp,S., Gemoll,T., Humborg,S., Hartwig,S., Lehr,S.,
            Freitag-Wolf,S., Becker,S., Franzen,B., Pries,R., Wollenberg,B.,
            Roblick,U.J., Bruch,H.P., Keck,T., Auer,G. and Habermann,J.K.
  TITLE     Protein levels of clusterin and glutathione synthetase in platelets
            allow for early detection of colorectal cancer
  JOURNAL   Cell Mol Life Sci 75 (2), 323-334 (2018)
   PUBMED   28849249
  REMARK    GeneRIF: Data suggest that the potential of clusterin and
            glutathione synthetase (GSH-S) as platelet biomarkers for early
            detection of colorectal cancer (CRC) could improve existing
            screening modalities in clinical application.
REFERENCE   4  (bases 1 to 2004)
  AUTHORS   Gunduz,M., Unal,O., Kavurt,S., Turk,E. and Mungan,N.O.
  TITLE     Clinical findings and effect of sodium hydrogen carbonate in
            patients with glutathione synthetase deficiency
  JOURNAL   J Pediatr Endocrinol Metab 29 (4), 481-485 (2016)
   PUBMED   26669244
  REMARK    GeneRIF: Mutation in Glutathione Synthase gene is associated with
            chronic metabolic acidosis in glutathione synthetase deficiency.
REFERENCE   5  (bases 1 to 2004)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   6  (bases 1 to 2004)
  AUTHORS   Gali,R.R. and Board,P.G.
  TITLE     Sequencing and expression of a cDNA for human glutathione
            synthetase
  JOURNAL   Biochem J 310 (Pt 1) (Pt 1), 353-358 (1995)
   PUBMED   7646467
REFERENCE   7  (bases 1 to 2004)
  AUTHORS   Uhlig,S. and Wendel,A.
  TITLE     The physiological consequences of glutathione variations
  JOURNAL   Life Sci 51 (14), 1083-1094 (1992)
   PUBMED   1518371
  REMARK    Review article
REFERENCE   8  (bases 1 to 2004)
  AUTHORS   Meister,A. and Anderson,M.E.
  TITLE     Glutathione
  JOURNAL   Annu Rev Biochem 52, 711-760 (1983)
   PUBMED   6137189
  REMARK    Review article
REFERENCE   9  (bases 1 to 2004)
  AUTHORS   Rollins,D., Larsson,A., Steen,B., Krishnaswamy,K., Hagenfeldt,L.,
            Moldeus,P. and Rane,A.
  TITLE     Glutathione and gamma-glutamyl cycle enzymes in human fetal liver
  JOURNAL   J Pharmacol Exp Ther 217 (3), 697-700 (1981)
   PUBMED   6112263
REFERENCE   10 (bases 1 to 2004)
  AUTHORS   Spielberg,S.P., Boxer,L.A., Oliver,J.M., Allen,J.M. and
            Schulman,J.D.
  TITLE     Oxidative damage to neutrophils in glutathione synthetase
            deficiency
  JOURNAL   Br J Haematol 42 (2), 215-223 (1979)
   PUBMED   465367
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC328543.1 and BC007927.1.
            
            On Apr 13, 2016 this sequence version replaced XM_011528796.1.
            
            Summary: Glutathione is important for a variety of biological
            functions, including protection of cells from oxidative damage by
            free radicals, detoxification of xenobiotics, and membrane
            transport. The protein encoded by this gene functions as a
            homodimer to catalyze the second step of glutathione biosynthesis,
            which is the ATP-dependent conversion of
            gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene
            are a cause of glutathione synthetase deficiency. [provided by
            RefSeq, Jul 2008].
            
            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 :: SRR1803612.117778.1,
                                           SRR1803617.17220.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-515               DC328543.1         1-515
            516-2004            BC007927.1         436-1924
FEATURES             Location/Qualifiers
     source          1..2004
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..2004
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="glutathione synthetase"
                     /db_xref="GeneID:2937"
                     /db_xref="HGNC:HGNC:4624"
                     /db_xref="MIM:601002"
     exon            1..158
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            159..295
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..1591
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /EC_number="6.3.2.3"
                     /note="GSH synthetase; glutathione synthase; GSH-S"
                     /codon_start=1
                     /product="glutathione synthetase"
                     /protein_id="NP_001309423.1"
                     /db_xref="CCDS:CCDS13245.1"
                     /db_xref="GeneID:2937"
                     /db_xref="HGNC:HGNC:4624"
                     /db_xref="MIM:601002"
                     /translation="MATNWGSLLQDKQQLEELARQAVDRALAEGVLLRTSQEPTSSEV
                     VSYAPFTLFPSLVPSALLEQAYAVQMDFNLLVDAVSQNAAFLEQTLSSTIKQDDFTAR
                     LFDIHKQVLKEGIAQTVFLGLNRSDYMFQRSADGSPALKQIEINTISASFGGLASRTP
                     AVHRHVLSVLSKTKEAGKILSNNPSKGLALGIAKAWELYGSPNALVLLIAQEKERNIF
                     DQRAIENELLARNIHVIRRTFEDISEKGSLDQDRRLFVDGQEIAVVYFRDGYMPRQYS
                     LQNWEARLLLERSHAAKCPDIATQLAGTKKVQQELSRPGMLEMLLPGQPEAVARLRAT
                     FAGLYSLDVGEEGDQAIAEALAAPSRFVLKPQREGGGNNLYGEEMVQALKQLKDSEER
                     ASYILMEKIEPEPFENCLLRPGSPARVVQCISELGIFGVYVRQEKTLVMNKHVGHLLR
                     TKAIEHADGGVAAGVAVLDNPYPV"
     exon            296..441
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            442..517
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            518..657
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            658..774
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            775..855
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            856..933
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            934..1000
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1001..1195
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1196..1277
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1278..1467
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1468..1986
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1964..1969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="hexamer: AATAAA"
     polyA_site      1986
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="major polyA site"
ORIGIN      
        1 gctctatgag ctatgcatac ccgtagctcc ccgccgaccc cgatggtccc ctcccctcct
       61 tcccaaggtc catccgccag ggtgcagccg acgcactcct aatgctaagg ccgccctctc
      121 atcgaccgcc ccttcctggc ctcgactcag cgccaaaggt gttgggatgg ccaccaactg
      181 ggggagcctc ttgcaggata aacagcagct agaggagctg gcacggcagg ccgtggaccg
      241 ggccctggct gagggagtat tgctgaggac ctcacaggag cccacttcct cggaggtggt
      301 gagctatgcc ccattcacgc tcttcccctc actggtcccc agtgccctgc tggagcaagc
      361 ctatgctgtg cagatggact tcaacctgct agtggatgct gtcagccaga acgctgcctt
      421 cctggagcaa actctttcca gcaccatcaa acaggatgac tttaccgctc gtctctttga
      481 catccacaag caagtcctaa aagagggcat tgcccagact gtgttcctgg gcctgaatcg
      541 ctcagactac atgttccagc gcagcgcaga tggctcccca gccctgaaac agatcgaaat
      601 caacaccatc tctgccagct ttgggggcct ggcctcccgg accccagctg tgcaccgaca
      661 tgttctcagt gtcctgagta agaccaaaga agctggcaag atcctctcta ataatcccag
      721 caagggactg gccctgggaa ttgccaaagc ctgggagctc tacggctcac ccaatgctct
      781 ggtgctactg attgctcaag agaaggaaag aaacatattt gaccagcgtg ccatagagaa
      841 tgagctactg gccaggaaca tccatgtgat ccgacgaaca tttgaagata tctctgaaaa
      901 ggggtctctg gaccaagacc gaaggctgtt tgtggatggc caggaaattg ctgtggttta
      961 cttccgggat ggctacatgc ctcgtcagta cagtctacag aattgggaag cacgtctact
     1021 gctggagagg tcacatgctg ccaagtgccc agacattgcc acccagctgg ctgggactaa
     1081 gaaggtgcag caggagctaa gcaggccggg catgctggag atgttgctcc ctggccagcc
     1141 tgaggctgtg gcccgcctcc gcgccacctt tgctggcctc tactcactgg atgtgggtga
     1201 agaaggggac caggccatcg ccgaggccct tgctgcccct agccggtttg tgctaaagcc
     1261 ccagagagag ggtggaggta acaacctata tggggaggaa atggtacagg ccctgaaaca
     1321 gctgaaggac agtgaggaga gggcctccta catcctcatg gagaagatcg aacctgagcc
     1381 ttttgagaat tgcctgctac ggcctggcag ccctgcccga gtggtccagt gcatttcaga
     1441 gctgggcatc tttggggtct atgtcaggca ggaaaagaca ctcgtgatga acaagcacgt
     1501 ggggcatcta cttcgaacca aagccatcga gcatgcagat ggtggtgtgg cagcgggagt
     1561 ggcagtcctg gacaacccat accctgtgtg agggcacaac caggccacgg gaccttctat
     1621 cctctgtatt tgtcattcct ctcctagccc tcctgagggg tatcctccta aagacctcca
     1681 aagtttttat ggaagggtaa atactggtac cttcccccag ctttccatct gaggaccaga
     1741 aaagttgtgt ctcccttaga tgagatctag acgcccccaa atccttgaga tgtgggtata
     1801 gctcagggta agctgctctg aggtaaaggt ccatgaaccc tgccccactc ctgtcagccc
     1861 ctcatcagcc ttttcagcag gttccagtgc ctgacttggg ataggactga gtggtaggag
     1921 gagggggagt ggaggggcat agcctttccc taattctgcc ttaaataaaa ctgcattgct
     1981 gattcaaaaa aaaaaaaaaa aaaa
//
