LOCUS       NM_000178               1909 bp    mRNA    linear   PRI 14-OCT-2024
DEFINITION  Homo sapiens glutathione synthetase (GSS), transcript variant 1,
            mRNA.
ACCESSION   NM_000178
VERSION     NM_000178.4
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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 1909)
  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 AU076581.1, BC007927.1 and
            AL133324.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 16, 2018 this sequence version replaced NM_000178.3.
            
            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].
            
            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 :: SRR1660805.73296.1,
                                           SRR3476690.360308.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000651619.1/ ENSP00000498303.1
            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
            1-8                 AU076581.1         12-19
            9-1908              BC007927.1         7-1906
            1909-1909           AL133324.13        7880-7880           c
FEATURES             Location/Qualifiers
     source          1..1909
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.22"
     gene            1..1909
                     /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..80
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            81..217
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     CDS             89..1513
                     /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_000169.1"
                     /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            218..363
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            364..439
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            440..579
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            580..696
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            697..777
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            778..855
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            856..922
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            923..1117
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1199
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1200..1389
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1909
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1886..1891
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="hexamer: AATAAA"
     polyA_site      1908
                     /gene="GSS"
                     /gene_synonym="CNSHA6; GSHS; HEL-S-64p; HEL-S-88n"
                     /note="major polyA site"
ORIGIN      
        1 gtcgcatcga ggccccgccc cctgagcctg ggtagcggcg cgagggccgg gagaaccgtt
       61 cgcggaggaa aggcgaacta gtgttgggat ggccaccaac tgggggagcc tcttgcagga
      121 taaacagcag ctagaggagc tggcacggca ggccgtggac cgggccctgg ctgagggagt
      181 attgctgagg acctcacagg agcccacttc ctcggaggtg gtgagctatg ccccattcac
      241 gctcttcccc tcactggtcc ccagtgccct gctggagcaa gcctatgctg tgcagatgga
      301 cttcaacctg ctagtggatg ctgtcagcca gaacgctgcc ttcctggagc aaactctttc
      361 cagcaccatc aaacaggatg actttaccgc tcgtctcttt gacatccaca agcaagtcct
      421 aaaagagggc attgcccaga ctgtgttcct gggcctgaat cgctcagact acatgttcca
      481 gcgcagcgca gatggctccc cagccctgaa acagatcgaa atcaacacca tctctgccag
      541 ctttgggggc ctggcctccc ggaccccagc tgtgcaccga catgttctca gtgtcctgag
      601 taagaccaaa gaagctggca agatcctctc taataatccc agcaagggac tggccctggg
      661 aattgccaaa gcctgggagc tctacggctc acccaatgct ctggtgctac tgattgctca
      721 agagaaggaa agaaacatat ttgaccagcg tgccatagag aatgagctac tggccaggaa
      781 catccatgtg atccgacgaa catttgaaga tatctctgaa aaggggtctc tggaccaaga
      841 ccgaaggctg tttgtggatg gccaggaaat tgctgtggtt tacttccggg atggctacat
      901 gcctcgtcag tacagtctac agaattggga agcacgtcta ctgctggaga ggtcacatgc
      961 tgccaagtgc ccagacattg ccacccagct ggctgggact aagaaggtgc agcaggagct
     1021 aagcaggccg ggcatgctgg agatgttgct ccctggccag cctgaggctg tggcccgcct
     1081 ccgcgccacc tttgctggcc tctactcact ggatgtgggt gaagaagggg accaggccat
     1141 cgccgaggcc cttgctgccc ctagccggtt tgtgctaaag ccccagagag agggtggagg
     1201 taacaaccta tatggggagg aaatggtaca ggccctgaaa cagctgaagg acagtgagga
     1261 gagggcctcc tacatcctca tggagaagat cgaacctgag ccttttgaga attgcctgct
     1321 acggcctggc agccctgccc gagtggtcca gtgcatttca gagctgggca tctttggggt
     1381 ctatgtcagg caggaaaaga cactcgtgat gaacaagcac gtggggcatc tacttcgaac
     1441 caaagccatc gagcatgcag atggtggtgt ggcagcggga gtggcagtcc tggacaaccc
     1501 ataccctgtg tgagggcaca accaggccac gggaccttct atcctctgta tttgtcattc
     1561 ctctcctagc cctcctgagg ggtatcctcc taaagacctc caaagttttt atggaagggt
     1621 aaatactggt accttccccc agctttccat ctgaggacca gaaaagttgt gtctccctta
     1681 gatgagatct agacgccccc aaatccttga gatgtgggta tagctcaggg taagctgctc
     1741 tgaggtaaag gtccatgaac cctgccccac tcctgtcagc ccctcatcag ccttttcagc
     1801 aggttccagt gcctgacttg ggataggact gagtggtagg aggaggggga gtggaggggc
     1861 atagcctttc cctaattctg ccttaaataa aactgcattg ctgattcag
//
