LOCUS       NM_001322495            2766 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens glutathione synthetase (GSS), transcript variant 3,
            mRNA.
ACCESSION   NM_001322495 XM_005260406
VERSION     NM_001322495.1
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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 2766)
  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 AL133324.13 and BC007927.1.
            
            On Apr 13, 2016 this sequence version replaced XM_005260406.3.
            
            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].
            
            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 :: SRR1803614.162655.1,
                                           ERR3218379.682638.1 [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
            1-920               AL133324.13        34164-35083         c
            921-2766            BC007927.1         79-1924
FEATURES             Location/Qualifiers
     source          1..2766
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..2766
                     /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..920
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1057
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     CDS             929..2353
                     /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_001309424.1"
                     /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            1058..1203
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1279
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1280..1419
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1420..1536
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1617
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1695
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1696..1762
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1763..1957
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1958..2039
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            2040..2229
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            2230..2748
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2726..2731
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="hexamer: AATAAA"
     polyA_site      2748
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="major polyA site"
ORIGIN      
        1 ggaggccggg agaccttgtg gctgaaaccc ttcgtaggag cggggcaact agtgtctagt
       61 gagggggttg ggctggcgcg cactgatccc agactttccg gatcttctgc ctttagatcg
      121 ggccggtgtc ggggcatgta ggccagtgag actggagcca gttagagcta caacggggag
      181 cgattagggc caaactttgt ccagggtgga agcgagcggg cccgtgaagt ggggccagcc
      241 tgggcagccg accgtgtcgt tgcctcgggg cctttccagg cactggccta agtcctggcg
      301 ataaagtgcg accgatttcc ttgtgggcgt tttgaggctt tcggtgatct gacccgtctg
      361 tcattcattc ttcattcatt catgtgatga atgaatacag tactaagcgc ggctaattac
      421 taggtagaga agtgatcaag acaaacactg ttcctacggt acagggaaaa gtgatgggct
      481 gtagaatgta gaagcccggg gcggagaaca gggacagctt ccggaacgaa atcgcgagcc
      541 cagatcagga gtggtggcga gagttccaaa gagaagacag cacgtgccaa gtcctggaag
      601 ggggacagag gccaacatat cctggtcact gaagacacct gactctgaat ctgtttcacg
      661 cccagggaag agatgacagt ggccggggct aggctacaaa ctctggaaat ggagataaat
      721 aaaggaattc aaagtactat atacttaggc agcaaaatcc ataggatttg gggagagtga
      781 gatgtaggaa acaagtactc aaggcttggg tacctgggtg gggttcatca gagaagaagc
      841 agatttgtgg gagacaacaa caaattctat tctggttgta tggagactcg caggaaaaaa
      901 ttggatattc tagtttgaag gtgttgggat ggccaccaac tgggggagcc tcttgcagga
      961 taaacagcag ctagaggagc tggcacggca ggccgtggac cgggccctgg ctgagggagt
     1021 attgctgagg acctcacagg agcccacttc ctcggaggtg gtgagctatg ccccattcac
     1081 gctcttcccc tcactggtcc ccagtgccct gctggagcaa gcctatgctg tgcagatgga
     1141 cttcaacctg ctagtggatg ctgtcagcca gaacgctgcc ttcctggagc aaactctttc
     1201 cagcaccatc aaacaggatg actttaccgc tcgtctcttt gacatccaca agcaagtcct
     1261 aaaagagggc attgcccaga ctgtgttcct gggcctgaat cgctcagact acatgttcca
     1321 gcgcagcgca gatggctccc cagccctgaa acagatcgaa atcaacacca tctctgccag
     1381 ctttgggggc ctggcctccc ggaccccagc tgtgcaccga catgttctca gtgtcctgag
     1441 taagaccaaa gaagctggca agatcctctc taataatccc agcaagggac tggccctggg
     1501 aattgccaaa gcctgggagc tctacggctc acccaatgct ctggtgctac tgattgctca
     1561 agagaaggaa agaaacatat ttgaccagcg tgccatagag aatgagctac tggccaggaa
     1621 catccatgtg atccgacgaa catttgaaga tatctctgaa aaggggtctc tggaccaaga
     1681 ccgaaggctg tttgtggatg gccaggaaat tgctgtggtt tacttccggg atggctacat
     1741 gcctcgtcag tacagtctac agaattggga agcacgtcta ctgctggaga ggtcacatgc
     1801 tgccaagtgc ccagacattg ccacccagct ggctgggact aagaaggtgc agcaggagct
     1861 aagcaggccg ggcatgctgg agatgttgct ccctggccag cctgaggctg tggcccgcct
     1921 ccgcgccacc tttgctggcc tctactcact ggatgtgggt gaagaagggg accaggccat
     1981 cgccgaggcc cttgctgccc ctagccggtt tgtgctaaag ccccagagag agggtggagg
     2041 taacaaccta tatggggagg aaatggtaca ggccctgaaa cagctgaagg acagtgagga
     2101 gagggcctcc tacatcctca tggagaagat cgaacctgag ccttttgaga attgcctgct
     2161 acggcctggc agccctgccc gagtggtcca gtgcatttca gagctgggca tctttggggt
     2221 ctatgtcagg caggaaaaga cactcgtgat gaacaagcac gtggggcatc tacttcgaac
     2281 caaagccatc gagcatgcag atggtggtgt ggcagcggga gtggcagtcc tggacaaccc
     2341 ataccctgtg tgagggcaca accaggccac gggaccttct atcctctgta tttgtcattc
     2401 ctctcctagc cctcctgagg ggtatcctcc taaagacctc caaagttttt atggaagggt
     2461 aaatactggt accttccccc agctttccat ctgaggacca gaaaagttgt gtctccctta
     2521 gatgagatct agacgccccc aaatccttga gatgtgggta tagctcaggg taagctgctc
     2581 tgaggtaaag gtccatgaac cctgccccac tcctgtcagc ccctcatcag ccttttcagc
     2641 aggttccagt gcctgacttg ggataggact gagtggtagg aggaggggga gtggaggggc
     2701 atagcctttc cctaattctg ccttaaataa aactgcattg ctgattcaaa aaaaaaaaaa
     2761 aaaaaa
//
