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    GCLM glutamate-cysteine ligase modifier subunit [ Homo sapiens (human) ]

    Gene ID: 2730, updated on 12-Jun-2016
    Official Symbol
    GCLMprovided by HGNC
    Official Full Name
    glutamate-cysteine ligase modifier subunitprovided by HGNC
    Primary source
    HGNC:HGNC:4312
    See related
    Ensembl:ENSG00000023909 HPRD:03106; MIM:601176; Vega:OTTHUMG00000010562
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GLCLR
    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]
    Orthologs
    Location:
    1p22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (93885199..93909598, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94352590..94375154, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene transfer RNA-Arg (TCT) 1-1 Neighboring gene deoxynucleotidyltransferase terminal interacting protein 2 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 5 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 11

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Myocardial infarction 1
    MedGen: C1838021 OMIM: 608446 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    NHGRI GWA Catalog

    Replication interactions

    Interaction Pubs
    Knockdown of glutamate-cysteine ligase, modifier subunit (GCLM) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to glutamate-cysteine ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to glutamate-cysteine ligase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glutamate-cysteine ligase catalytic subunit binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    apoptotic mitochondrial changes IEA
    Inferred from Electronic Annotation
    more info
     
    cysteine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutamate metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutathione biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glutathione biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glutathione biosynthetic process TAS
    Traceable Author Statement
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of glutamate-cysteine ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of blood vessel size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of mitochondrial depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to nitrosative stress IEA
    Inferred from Electronic Annotation
    more info
     
    response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sulfur amino acid metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    glutamate-cysteine ligase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    glutamate--cysteine ligase regulatory subunit
    Names
    GCS light chain
    GSC light chain
    gamma-ECS regulatory subunit
    gamma-glutamylcysteine synthetase regulatory subunit
    glutamate-cysteine ligase (gamma-glutamylcysteine synthetase), regulatory (30.8kD)
    glutamate-cysteine ligase modifier subunit delta2 alternative splicing
    glutamate-cysteine ligase regulatory protein
    glutamate-cysteine ligase, modifier subunit
    NP_001295182.1
    NP_002052.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012072.1 RefSeqGene

      Range
      4859..29258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308253.1NP_001295182.1  glutamate--cysteine ligase regulatory subunit isoform 2

      See identical proteins and their annotated locations for NP_001295182.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2 which has the same N- and C-termini, but is shorter than isoform 1.
      Source sequence(s)
      AB809606, AK290449, BC041809, BF513627, BG501583, BM982562, BQ049850, BU754400, CB123306, CN272168, CN422503, N53134
      UniProtKB/Swiss-Prot
      P48507
      Related
      ENSP00000484507, ENST00000615724
      Conserved Domains (1) summary
      cl00470
      Location:95189
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...
    2. NM_002061.3NP_002052.1  glutamate--cysteine ligase regulatory subunit isoform 1

      See identical proteins and their annotated locations for NP_002052.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK290449, BC041809, BF513627, BG501583, BM982562, BQ049850, BU754400, CB123306, CN272168, CN422503, N53134
      Consensus CDS
      CCDS746.1
      UniProtKB/Swiss-Prot
      P48507
      Related
      ENSP00000359258, OTTHUMP00000012299, ENST00000370238, OTTHUMT00000029169
      Conserved Domains (1) summary
      cl00470
      Location:117211
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      93885199..93909598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001057.1XP_016856546.1  

    2. XM_017001056.1XP_016856545.1  

    3. XM_011541261.2XP_011539563.1  

      Conserved Domains (1) summary
      cl00470
      Location:29123
      Aldo_ket_red; Aldo-keto reductases (AKRs) are a superfamily of soluble NAD(P)(H) oxidoreductases whose chief purpose is to reduce aldehydes and ketones to primary and secondary alcohols. AKRs are present in all phyla and are of importance to both health and industrial ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      94465723..94490121 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)