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GCLC glutamate-cysteine ligase, catalytic subunit [ Homo sapiens (human) ]

Gene ID: 2729, updated on 11-Sep-2014
Official Symbol
GCLCprovided by HGNC
Official Full Name
glutamate-cysteine ligase, catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:4311
See related
Ensembl:ENSG00000001084; HPRD:06032; MIM:606857; Vega:OTTHUMG00000160220
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
GCL; GCS; GLCL; GLCLC
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. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]
See GCLC in Epigenomics, MapViewer
Location:
6p12
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (53497341..53545129, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (53362139..53409927, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene replication protein A3, 14kDa pseudogene Neighboring gene Nanog homeobox pseudogene 3 Neighboring gene uncharacterized LOC101927136 Neighboring gene uncharacterized LOC101927171

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
coenzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
glutamate binding IDA
Inferred from Direct Assay
more info
PubMed 
glutamate-cysteine ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
glutamate-cysteine ligase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
L-ascorbic acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
apoptotic mitochondrial changes IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
cysteine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
glutathione derivative biosynthetic process TAS
Traceable Author Statement
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
negative regulation of protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
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 arsenic-containing substance IEA
Inferred from Electronic Annotation
more info
 
response to heat IDA
Inferred from Direct Assay
more info
PubMed 
response to hormone 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 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
sulfur amino acid metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
cytosol TAS
Traceable Author Statement
more info
 
glutamate-cysteine ligase complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
glutamate--cysteine ligase catalytic subunit
Names
glutamate--cysteine ligase catalytic subunit
gamma-ECS
GCS heavy chain
gamma-glutamylcysteine synthetase
NP_001184044.1
NP_001489.1

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_012071.1 

    Range
    4905..52693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001197115.1NP_001184044.1  glutamate--cysteine ligase catalytic subunit isoform b

    See proteins identical to NP_001184044.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also referred to as delta4) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform b), compared to isoform a.
    Source sequence(s)
    AB262176, AB516284, AK313480, AL531593, BC039894, BI550814
    Consensus CDS
    CCDS75471.1
    UniProtKB/TrEMBL
    E1CEI4
    UniProtKB/Swiss-Prot
    P48506
    UniProtKB/TrEMBL
    Q14TF0
    Related
    ENSP00000482756, ENST00000616923
    Conserved Domains (1) summary
    pfam03074
    Location:198572
    GCS; Glutamate-cysteine ligase
  2. NM_001498.3NP_001489.1  glutamate--cysteine ligase catalytic subunit isoform a

    See proteins identical to NP_001489.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AB262176, AK313480, AL531593, BC039894, BI550814
    Consensus CDS
    CCDS4952.1
    UniProtKB/Swiss-Prot
    P48506
    UniProtKB/TrEMBL
    Q14TF0
    Related
    ENSP00000229416, OTTHUMP00000217803, ENST00000229416, OTTHUMT00000359710
    Conserved Domains (1) summary
    pfam03074
    Location:236610
    GCS; Glutamate-cysteine ligase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    53497341..53545129
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    53193712..53241391
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    53363932..53411726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)