LOCUS       NP_002052                274 aa            linear   PRI 19-SEP-2024
DEFINITION  glutamate--cysteine ligase regulatory subunit isoform 1 [Homo
            sapiens].
ACCESSION   NP_002052
VERSION     NP_002052.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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  (residues 1 to 274)
  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 (residues 1 to 274)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..274
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p22.1"
     Protein         1..274
                     /product="glutamate--cysteine ligase regulatory subunit
                     isoform 1"
                     /EC_number="6.3.2.2"
                     /note="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"
                     /calculated_mol_wt=30596
     Region          <86..>211
                     /region_name="AKR_SF"
                     /note="Aldo-keto reductase (AKR) superfamily; cl00470"
                     /db_xref="CDD:444925"
     Site            263
                     /site_type="acetylation"
                     /note="N6-acetyllysine.
                     /evidence=ECO:0007744|PubMed:19608861; propagated from
                     UniProtKB/Swiss-Prot (P48507.1)"
     CDS             1..274
                     /gene="GCLM"
                     /gene_synonym="GLCLR"
                     /coded_by="NM_002061.4:268..1092"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS746.1"
                     /db_xref="GeneID:2730"
                     /db_xref="HGNC:HGNC:4312"
                     /db_xref="MIM:601176"
ORIGIN      
        1 mgtdsraaka llarartlhl qtgnllnwgr lrkkcpsths eelhdciqkt lnewssqinp
       61 dlvrefpdvl ectvshavek inpdereemk vsaklfives nsssstrsav dmacsvlgva
      121 qldsviiasp piedgvnlsl ehlqpyweel enlvqskkiv aigtsdldkt qleqlyqwaq
      181 vkpnsnqvnl asccvmppdl tafakqfdiq llthndpkel lseasfqeal qesipdiqah
      241 ewvplwllry svivksrgii kskgyilqak rrgs
//
