LOCUS       NM_002061               4883 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens glutamate-cysteine ligase modifier subunit (GCLM),
            transcript variant 1, mRNA.
ACCESSION   NM_002061
VERSION     NM_002061.4
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 4883)
  AUTHORS   Da,D., Pan,Z., Zeng,L., Dang,Y., Dang,C., Huang,Y., Shi,D. and
            Li,H.
  TITLE     Glutamate-cysteine ligase catalytic and its modifier function as
            novel immunotargets in gastric adenocarcinoma
  JOURNAL   Asian J Surg 46 (1), 143-149 (2023)
   PUBMED   35241341
  REMARK    GeneRIF: Glutamate-cysteine ligase catalytic and its modifier
            function as novel immunotargets in gastric adenocarcinoma.
REFERENCE   2  (bases 1 to 4883)
  AUTHORS   Yang,C., Xi,M., Liu,H., Bai,H., Jiang,C., Liu,Q. and Fan,P.
  TITLE     Association of Polymorphisms of Glutamate Cysteine Ligase Genes
            GCLC C-129 T and GCLM C-588 T with Risk of Polycystic Ovary
            Syndrome in Chinese Women
  JOURNAL   Reprod Sci 29 (6), 1790-1800 (2022)
   PUBMED   34642912
  REMARK    GeneRIF: Association of Polymorphisms of Glutamate Cysteine Ligase
            Genes GCLC C-129 T and GCLM C-588 T with Risk of Polycystic Ovary
            Syndrome in Chinese Women.
REFERENCE   3  (bases 1 to 4883)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 4883)
  AUTHORS   Mazloomi,S., Khodadadi,I., Alizadeh,N. and Shafiee,G.
  TITLE     Association of glutamate cystein ligase (GCL) activity
            Peroxiredoxin 4 (prxR4) and apelin levels in women with
            preeclampsia
  JOURNAL   Pregnancy Hypertens 23, 163-168 (2021)
   PUBMED   33421846
  REMARK    GeneRIF: Association of glutamate cystein ligase (GCL) activity
            Peroxiredoxin 4 (prxR4) and apelin levels in women with
            preeclampsia.
REFERENCE   5  (bases 1 to 4883)
  AUTHORS   Azarova,I., Klyosova,E., Lazarenko,V., Konoplya,A. and Polonikov,A.
  TITLE     Genetic variants in glutamate cysteine ligase confer protection
            against type 2 diabetes
  JOURNAL   Mol Biol Rep 47 (8), 5793-5805 (2020)
   PUBMED   32715377
  REMARK    GeneRIF: Genetic variants in glutamate cysteine ligase confer
            protection against type 2 diabetes.
REFERENCE   6  (bases 1 to 4883)
  AUTHORS   Misra,I. and Griffith,O.W.
  TITLE     Expression and purification of human gamma-glutamylcysteine
            synthetase
  JOURNAL   Protein Expr Purif 13 (2), 268-276 (1998)
   PUBMED   9675072
REFERENCE   7  (bases 1 to 4883)
  AUTHORS   Sierra-Rivera,E., Dasouki,M., Summar,M.L., Krishnamani,M.R.,
            Meredith,M., Rao,P.N., Phillips,J.A. 3rd and Freeman,M.L.
  TITLE     Assignment of the human gene (GLCLR) that encodes the regulatory
            subunit of gamma-glutamylcysteine synthetase to chromosome 1p21
  JOURNAL   Cytogenet Cell Genet 72 (2-3), 252-254 (1996)
   PUBMED   8978789
REFERENCE   8  (bases 1 to 4883)
  AUTHORS   Tsuchiya,K., Mulcahy,R.T., Reid,L.L., Disteche,C.M. and
            Kavanagh,T.J.
  TITLE     Mapping of the glutamate-cysteine ligase catalytic subunit gene
            (GLCLC) to human chromosome 6p12 and mouse chromosome 9D-E and of
            the regulatory subunit gene (GLCLR) to human chromosome 1p21-p22
            and mouse chromosome 3H1-3
  JOURNAL   Genomics 30 (3), 630-632 (1995)
   PUBMED   8825659
REFERENCE   9  (bases 1 to 4883)
  AUTHORS   Gipp,J.J., Bailey,H.H. and Mulcahy,R.T.
  TITLE     Cloning and sequencing of the cDNA for the light subunit of human
            liver gamma-glutamylcysteine synthetase and relative mRNA levels
            for heavy and light subunits in human normal tissues
  JOURNAL   Biochem Biophys Res Commun 206 (2), 584-589 (1995)
   PUBMED   7826375
REFERENCE   10 (bases 1 to 4883)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK290449.1, BC041809.1,
            CB123306.1, CN272168.1, BQ049850.1, N53134.1, CN422503.1,
            BF513627.1, BM982562.1 and BU754400.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_002061.3.
            
            Summary: Glutamate-cysteine ligase, also known as
            gamma-glutamylcysteine synthetase, is the first rate limiting
            enzyme of glutathione synthesis. The enzyme consists of two
            subunits, a heavy catalytic subunit and a light regulatory subunit.
            Gamma glutamylcysteine synthetase deficiency has been implicated in
            some forms of hemolytic anemia. Alternative splicing results in
            multiple transcript variants encoding different isoforms. [provided
            by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR14038192.1898476.1,
                                           SRR14038193.3111008.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370238.8/ ENSP00000359258.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1129              AK290449.1         168-1296
            1130-1630           BC041809.1         1099-1599
            1631-2009           CB123306.1         123-501
            2010-2446           CN272168.1         26-462
            2447-2608           BQ049850.1         375-536
            2609-2932           N53134.1           30-353
            2933-3489           CN422503.1         61-617
            3490-3879           BF513627.1         233-622
            3880-4414           BM982562.1         19-553              c
            4415-4883           BU754400.1         16-484              c
FEATURES             Location/Qualifiers
     source          1..4883
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     gene            1..4883
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="glutamate-cysteine ligase modifier subunit"
                     /db_xref="GeneID:2730"
                     /db_xref="HGNC:HGNC:4312"
                     /db_xref="MIM:601176"
     exon            1..393
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     CDS             268..1092
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /EC_number="6.3.2.2"
                     /note="isoform 1 is encoded by transcript variant 1; GSC
                     light chain; glutamate-cysteine ligase
                     (gamma-glutamylcysteine synthetase), regulatory (30.8kD);
                     glutamate-cysteine ligase regulatory protein; GCS light
                     chain; glutamate-cysteine ligase modifier subunit delta2
                     alternative splicing; gamma-ECS regulatory subunit;
                     gamma-glutamylcysteine synthetase regulatory subunit"
                     /codon_start=1
                     /product="glutamate--cysteine ligase regulatory subunit
                     isoform 1"
                     /protein_id="NP_002052.1"
                     /db_xref="CCDS:CCDS746.1"
                     /db_xref="GeneID:2730"
                     /db_xref="HGNC:HGNC:4312"
                     /db_xref="MIM:601176"
                     /translation="MGTDSRAAKALLARARTLHLQTGNLLNWGRLRKKCPSTHSEELH
                     DCIQKTLNEWSSQINPDLVREFPDVLECTVSHAVEKINPDEREEMKVSAKLFIVESNS
                     SSSTRSAVDMACSVLGVAQLDSVIIASPPIEDGVNLSLEHLQPYWEELENLVQSKKIV
                     AIGTSDLDKTQLEQLYQWAQVKPNSNQVNLASCCVMPPDLTAFAKQFDIQLLTHNDPK
                     ELLSEASFQEALQESIPDIQAHEWVPLWLLRYSVIVKSRGIIKSKGYILQAKRRGS"
     exon            394..459
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     exon            460..544
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     exon            545..604
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     exon            605..807
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     exon            808..922
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     exon            923..4883
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1604..1609
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="hexamer: AATAAA"
     regulatory      1621..1626
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="hexamer: AATACA"
     polyA_site      1626
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="major polyA site"
     polyA_site      1642
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
     regulatory      4743..4748
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="hexamer: AATAAA"
     polyA_site      4770
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
     regulatory      4855..4860
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="hexamer: AATAAA"
     regulatory      4863..4868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /note="hexamer: AATAAT"
     polyA_site      4877
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
     polyA_site      4883
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
ORIGIN      
        1 agtttggaat cagctctccc gctgcggccg cagtagccgg agccggagcc gcagccaccg
       61 gtgccttcct ttcccgccgc cgcccagccg ccgtccggcc tccctcgggc ccgagcgcag
      121 accaggctcc agccgcgcgg cgccggcagc ctcgcgctcc ctctcgggtc tctctcgggc
      181 ctcgggcacc gcgtcctgtg gggcggccgc ctgcctgccc gcccgcccgc agccccttcg
      241 ctgcgcggcc cctgggcggc cgctgccatg ggcaccgaca gccgcgcggc caaggcgctc
      301 ctggcgcggg cccgcaccct gcacctgcag acggggaacc tgctgaactg gggccgcctg
      361 cggaagaagt gcccgtccac gcacagcgag gagcttcatg attgtatcca aaaaaccttg
      421 aatgaatgga gttcccaaat caacccagat ttggtcaggg agtttccaga tgtcttggaa
      481 tgcactgtat ctcatgcagt agaaaagata aatcctgatg aaagagaaga aatgaaagtt
      541 tctgcaaaac tgttcattgt agaatcaaac tcttcatcat caactagaag tgcagttgac
      601 atggcctgtt cagtccttgg agttgcacag ctggattctg tgatcattgc ttcacctcct
      661 attgaagatg gagttaatct ttccttggag catttacagc cttactggga ggaattagaa
      721 aacttagttc agagcaaaaa gattgttgcc ataggtacct ctgatctaga caaaacacag
      781 ttggaacagc tgtatcagtg ggcacaggta aaaccaaata gtaaccaagt taatcttgcc
      841 tcctgctgtg tgatgccacc agatttgact gcatttgcta aacaatttga catacagctg
      901 ttgactcaca atgatccaaa agaactgctt tctgaagcaa gtttccaaga agctcttcag
      961 gaaagcattc ctgacattca agcgcacgag tgggtgccgc tgtggctact gcggtattcg
     1021 gtcattgtga aaagtagagg aattatcaaa tcaaaaggct acattttaca agctaaaaga
     1081 aggggttctt aactgactta ggagcataac ttacctgtaa tttccttcaa tatgagagaa
     1141 aattgagatg tgtaaaaatc tagttactgc ctgtaaatgg tgtcattgag gcagatattc
     1201 tttcgtcata tttgacagta tgttgtctgt caagttttaa atacttatct tgcctccata
     1261 tcaatccatt ctcatgaacc tctgtattgc tttccttaaa ctattgtttt ctaattgaaa
     1321 ttgtctataa agaaaatact tgcaatatat ttttccttta tttttatgac taatataaat
     1381 caagaaaatt tgttgttaga tatattttgg cctaggtatc agggtaatgt atatacatat
     1441 tttttatttc caaaaaaaat tcattaattg cttcttaact cttattataa ccaagcaatt
     1501 taattacaat tgttaaaact gaaatactgg aagaagatat ttttcctgtc attgatgaga
     1561 tatatcagag taactggagt agctgggatt tactagtagt gtaaataaaa ttcactcttc
     1621 aatacatgaa tggaaactta aatttttttt tatgtgtcct tgcttatagt ttagctgtaa
     1681 taatttaacc ttgtattctt gtgccatatt ctgtcttttt attacttata aagacaaacc
     1741 aaagtaaatc tgaaaggaga ctagaagctt tgaaattatt gtttgggggt tttataaaag
     1801 caactactgt cacctccatc cagattcttt taaattattg atccatccat agtatatatt
     1861 gctactcatt caagaatcct caataagtat tgagtattta ccatatgttg ggatactgtg
     1921 ggctctggag agaggagggg gcaatagagc taggaattaa gaatcagttg agtaaaatgt
     1981 gtaatattta ttccccatta ataactgact aggaaggact aaaagccaga aaggggatga
     2041 aaaaaaaatc cttaattcag ggccgacatt atctacttaa acaactttga gatatggtct
     2101 taattatttt aaagcagaat aatataattg aaagtttata gctaaaagag actatatagg
     2161 tcatttagta taattcttca ttagtttacg aaccacaaaa ttgcaaataa ataagctatg
     2221 aactttgatg tacactataa atctccttaa ttctataaat ttgtgtctgt aacctgaata
     2281 gtttgaaaac ttctttaaaa atctcttgta tttcatccgg gcgcagtggc tcacacctgt
     2341 aatcccagca ctttgggagg ccgaggtggg cagatcacga ggtcaggagt ttgagaccag
     2401 cctgaccaac atggtaaaac cccatctcta ctaaaataca aaaattggct gggcgtggtg
     2461 gcactcgcct gtaatctcag ctacttggga ggctgaggca ggagaatcgc ttgaacccgg
     2521 gaggcggagg ttacagtgag ccgagatcac atcactgcac tccagcctgg gcgacagagc
     2581 gagactccat ctcaaaaaaa aaaaaaaact cttgtatctc aatattttta aaccacaggc
     2641 ctaaataaaa ctaattttgc tcaagttttc tcaacctagg gaaaaagaac tatggttcca
     2701 tattcaaaat aaatattata gacccttttc ctaagtagga ttttgtggtt tactgattgg
     2761 gtaatttgat cattaaaatt atgtgaaatc tgcccgggca cacctcatgc ctgtaatccc
     2821 agcactctgg gaggccaagg cagatgatca cctgaggtca ggagttctag accagcctgg
     2881 ctaacatggt gaaaccctgt atctgctaaa aatacaaaaa ttagccaggc gtggtggcgg
     2941 gctcctgtaa tcccagctac tttggaggcg aggcacgaga atcgcttgaa cctgggaggc
     3001 ggagtttgca gtgagccgag atcacgccat tgcactccag cctgggcgac agagcgagac
     3061 tgcgtctcaa aaaaaaaaaa aaaagaaaaa ttatgtgaaa tcatgtgatt tgcctgggaa
     3121 aacttgttta gatattgagc tacttatgcc ttctagcctt tatattaatt gtatgtaatg
     3181 ttattaaata tatatatagt tcatctttac atttggaaat gcccaacatt tttttcatat
     3241 aagtccttaa acaagcgttc attttatttt aaatctatac agtgaactgg ccaagatatt
     3301 ttaagaggga actttaatat cccatttatt gtttttataa ccctggactt ataaaaatgg
     3361 gttgtttgaa gggttatttt gaaagtgggg gaaaaaaaaa cttagttgct aatgtatcta
     3421 aacttcagca gagctttttg gtgatctcct acctgcaccc tcaactcttg acaaagaagc
     3481 aagactatag attcattttc tgaaggggat catgtatgga attttttgat gagtttttac
     3541 ttttacctct ctactcttga ttttctatta ttgaatactc ttttaaaaca ctgattttta
     3601 aggctttata tatgttttcc aggctgatgt tcacatcttt ttttcatgaa ctatcagaat
     3661 atagtgaaca cttttcaaat atttaaggac ttaatgttta aaaagccata aaatagagag
     3721 tggtaatact accaaataat tacttaaaac tgaaagctaa gttatcaata gtttatataa
     3781 gagatgtttt ctgaggagat gtgcatccag tgagaccaag gtagaaagtt tatataattg
     3841 ttttttttcc agtaaatatg aaaaaaaaag ctgtagcttg tttattacat gtccaaaata
     3901 cagtggagcc ttactttaac acaatgtact gtaacttgga atttgttctg ttatgagtct
     3961 atcttgaatt cccatccatg aaactgtagt caccaaaagc aacaagtatt ttcacatgat
     4021 gtaaaagacc atactatgat ggccattgct agaaattgaa tcacaaataa tagctaataa
     4081 tttttcattt ttcaaaaaag atcatttgga tagcagctat gtataaaatg gaaaataaaa
     4141 aattattcta ttttgcatga atagttcaga ctttcccata ccacagccaa gcagtaacta
     4201 aaattaggat cttaattttc aatgataaaa ggtctaaggt tcatttaatt atgctccttt
     4261 aacactgtct ttctagattt ttcacccagt attttcaaaa tttgggaatg taaacaattg
     4321 atatatttat tgtatgttgg ctagcagttc atccttctgc aaaatatgca ttcagagaaa
     4381 tgtgaagctt gttttaatga agacttaaac catttgtgtc atttgtgttt tcatattcaa
     4441 atacaccaaa ttaaaattct gaacctatat ttttcatcat taacttccta atataccaga
     4501 acatatacct ttttcatgta aagttggcaa tgggatatgg cagttttatt tttgaaaaat
     4561 atgtaacatg actttaatat ttttatagtt ttcagaatta gaaacatagg aagggaaaat
     4621 gttttaatta gataagtcaa ctttttatgt gtctgtagtg gtgtactata atagcaaatt
     4681 ataaagcatt attaaatgtt tataataatt tttaatatta cctacattat gaatttaact
     4741 aaaataaagt gtgagttgta tattttttaa ttgggttgtt tcaatagctg gaagcatcct
     4801 gaagcattat attgattttt gaactatttg aactcaaact gagtatgatt tgaaaataaa
     4861 ttaataattt aaaaacatcc aaa
//
