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Aliases for GCLM Gene

Aliases for GCLM Gene

  • Glutamate-Cysteine Ligase Modifier Subunit 2 3
  • Glutamate-Cysteine Ligase, Modifier Subunit 2 3 5
  • Gamma-Glutamylcysteine Synthetase Regulatory Subunit 3 4
  • Gamma-ECS Regulatory Subunit 3 4
  • GCS Light Chain 3 4
  • GLCLR 3 4
  • Glutamate-Cysteine Ligase (Gamma-Glutamylcysteine Synthetase), Regulatory (30.8kD) 3
  • Glutamate-Cysteine Ligase Modifier Subunit Delta2 Alternative Splicing 3
  • Glutamate-Cysteine Ligase Regulatory Protein 3
  • Glutamate--Cysteine Ligase Modifier Subunit 4
  • Gamma-Glutamylcysteine Synthetase 2
  • GSC Light Chain 3

External Ids for GCLM Gene

Previous HGNC Symbols for GCLM Gene

  • GLCLR

Previous GeneCards Identifiers for GCLM Gene

  • GC01M094755
  • GC01M093560
  • GC01M093704
  • GC01M093825
  • GC01M094066
  • GC01M094351
  • GC01M092473

Summaries for GCLM Gene

Entrez Gene Summary for GCLM Gene

  • 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]

GeneCards Summary for GCLM Gene

GCLM (Glutamate-Cysteine Ligase Modifier Subunit) is a Protein Coding gene. Diseases associated with GCLM include Myocardial Infarction and Gamma-Glutamylcysteine Synthetase Deficiency. Among its related pathways are Phase II conjugation and Glutathione metabolism. GO annotations related to this gene include protein heterodimerization activity and glutamate-cysteine ligase activity.

Gene Wiki entry for GCLM Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GCLM Gene

Genomics for GCLM Gene

Regulatory Elements for GCLM Gene

Enhancers for GCLM Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around GCLM on UCSC Golden Path with GeneCards custom track

Promoters for GCLM Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GCLM on UCSC Golden Path with GeneCards custom track

Genomic Location for GCLM Gene

Chromosome:
1
Start:
93,885,205 bp from pter
End:
93,909,598 bp from pter
Size:
24,394 bases
Orientation:
Minus strand

Genomic View for GCLM Gene

Genes around GCLM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GCLM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GCLM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCLM Gene

Proteins for GCLM Gene

  • Protein details for GCLM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48507-GSH0_HUMAN
    Recommended name:
    Glutamate--cysteine ligase regulatory subunit
    Protein Accession:
    P48507
    Secondary Accessions:
    • A8K334
    • D3DT45
    • M5A959
    • Q6FHC1
    • Q9NPX9
    • Q9NU74

    Protein attributes for GCLM Gene

    Size:
    274 amino acids
    Molecular mass:
    30727 Da
    Quaternary structure:
    • Heterodimer of a catalytic heavy chain and a regulatory light chain.

    Alternative splice isoforms for GCLM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GCLM Gene

Proteomics data for GCLM Gene at MOPED

Post-translational modifications for GCLM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCLM Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for GCLM Gene

Domains & Families for GCLM Gene

Protein Domains for GCLM Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GCLM Gene

Graphical View of Domain Structure for InterPro Entry

P48507

UniProtKB/Swiss-Prot:

GSH0_HUMAN :
  • Belongs to the aldo/keto reductase family. Glutamate--cysteine ligase light chain subfamily.
Family:
  • Belongs to the aldo/keto reductase family. Glutamate--cysteine ligase light chain subfamily.
genes like me logo Genes that share domains with GCLM: view

No data available for Gene Families for GCLM Gene

Function for GCLM Gene

genes like me logo Genes that share phenotypes with GCLM: view

Animal Models for GCLM Gene

MGI Knock Outs for GCLM:

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GCLM Gene

Localization for GCLM Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GCLM Gene COMPARTMENTS Subcellular localization image for GCLM gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
golgi apparatus 1
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for GCLM Gene

Pathways & Interactions for GCLM Gene

genes like me logo Genes that share pathways with GCLM: view

UniProtKB/Swiss-Prot P48507-GSH0_HUMAN

  • Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.

Gene Ontology (GO) - Biological Process for GCLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000096 sulfur amino acid metabolic process TAS --
GO:0006536 glutamate metabolic process IDA 9841880
GO:0006749 glutathione metabolic process IEA --
GO:0006805 xenobiotic metabolic process TAS --
GO:0006979 response to oxidative stress IDA 10395918
genes like me logo Genes that share ontologies with GCLM: view

No data available for SIGNOR curated interactions for GCLM Gene

Drugs & Compounds for GCLM Gene

(6) Drugs for GCLM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Cysteine Approved Nutra Target 0
L-Glutamic Acid Nutra Full agonist, Agonist, Target 0

(5) Additional Compounds for GCLM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GCLM: view

Transcripts for GCLM Gene

Unigene Clusters for GCLM Gene

Glutamate-cysteine ligase, modifier subunit:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GCLM Gene

No ASD Table

Relevant External Links for GCLM Gene

GeneLoc Exon Structure for
GCLM
ECgene alternative splicing isoforms for
GCLM

Expression for GCLM Gene

mRNA expression in normal human tissues for GCLM Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GCLM Gene

This gene is overexpressed in Bone (31.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GCLM Gene



SOURCE GeneReport for Unigene cluster for GCLM Gene Hs.315562

mRNA Expression by UniProt/SwissProt for GCLM Gene

P48507-GSH0_HUMAN
Tissue specificity: In all tissues examined. Highest levels in skeletal muscle.
genes like me logo Genes that share expression patterns with GCLM: view

Protein tissue co-expression partners for GCLM Gene

Primer Products

No data available for mRNA differential expression in normal tissues for GCLM Gene

Orthologs for GCLM Gene

This gene was present in the common ancestor of animals.

Orthologs for GCLM Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia GCLM 35
  • 94.28 (n)
  • 95.99 (a)
GCLM 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCLM 35
  • 94.68 (n)
  • 97.84 (a)
GCLM 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gclm 35
  • 91.36 (n)
  • 96.35 (a)
Gclm 16
Gclm 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia GCLM 35
  • 99.76 (n)
  • 100 (a)
DNTTIP2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gclm 35
  • 91.48 (n)
  • 95.99 (a)
oppossum
(Monodelphis domestica)
Mammalia GCLM 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCLM 36
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCLM 35
  • 76.13 (n)
  • 78.21 (a)
GCLM 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCLM 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gclm 35
  • 70.09 (n)
  • 71.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia gclm-prov 35
zebrafish
(Danio rerio)
Actinopterygii gclm 35
  • 66.27 (n)
  • 65.35 (a)
wufi24c07 35
gclm 36
  • 63 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4080 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012038 35
  • 46.38 (n)
  • 37.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gclm 35
  • 45.57 (n)
  • 36.29 (a)
Gclm 36
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea E01A2.1 35
  • 44.63 (n)
  • 35.92 (a)
E01A2.1 36
  • 29 (a)
OneToOne
Species with no ortholog for GCLM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GCLM Gene

ENSEMBL:
Gene Tree for GCLM (if available)
TreeFam:
Gene Tree for GCLM (if available)

Paralogs for GCLM Gene

No data available for Paralogs for GCLM Gene

Variants for GCLM Gene

Sequence variations from dbSNP and Humsavar for GCLM Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs17880087 - 93,894,642(-) GACAT(A/G)CAGCT reference, missense
rs718873 -- 93,906,353(+) AAAAA(C/G/T)GGAAG intron-variant
rs718874 -- 93,906,453(+) TGGCT(A/C)ATTTG intron-variant
rs718875 -- 93,906,464(+) CACAC(C/T)TGAGG intron-variant
rs736762 -- 93,909,616(-) GACCC(A/G)CGCGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GCLM Gene

Variant ID Type Subtype PubMed ID
nsv523355 CNV Loss 19592680
esv269350 CNV Insertion 20981092

Variation tolerance for GCLM Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GCLM Gene

Human Gene Mutation Database (HGMD)
GCLM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCLM Gene

Disorders for GCLM Gene

MalaCards: The human disease database

(3) MalaCards diseases for GCLM Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, protection against
gamma-glutamylcysteine synthetase deficiency
  • glutamate-cysteine ligase deficiency
ancylostomiasis
  • ancylostomosis
- elite association - COSMIC cancer census association via MalaCards
Search GCLM in MalaCards View complete list of genes associated with diseases

Relevant External Links for GCLM

Genetic Association Database (GAD)
GCLM
Human Genome Epidemiology (HuGE) Navigator
GCLM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GCLM
genes like me logo Genes that share disorders with GCLM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GCLM Gene

Publications for GCLM Gene

  1. 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. (PMID: 7826375) Gipp J.J. … Mulcahy R.T. (Biochem. Biophys. Res. Commun. 1995) 2 3 4 67
  2. Association study between the genetic polymorphisms of glutathione-related enzymes and schizophrenia in a Japanese population. (PMID: 18449862) Matsuzawa D. … Iyo M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 3 23
  3. Combined effect of oxidative stress-related gene polymorphisms on atherosclerosis. (PMID: 19126404) Katakami N. … Yamasaki Y. (Biochem. Biophys. Res. Commun. 2009) 3 23
  4. Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. (PMID: 19455074) Butticaz C. … Rivolta C. (Psychiatr. Genet. 2009) 3 23
  5. Nrf2-dependent and -independent responses to nitro-fatty acids in human endothelial cells: identification of heat shock response as the major pathway activated by nitro-oleic acid. (PMID: 19808663) Kansanen E. … Levonen A.L. (J. Biol. Chem. 2009) 3 23

Products for GCLM Gene

Sources for GCLM Gene

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