Free for academic non-profit institutions. Other users need a Commercial license

Aliases for GCLM Gene

Aliases for GCLM Gene

  • 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 Subunit 3
  • Glutamate-Cysteine Ligase Regulatory Protein 3
  • Glutamate-Cysteine Ligase, Modifier Subunit 2
  • 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 Ancylostomiasis. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F093877 1.1 ENCODE 24.8 +30.8 30804 2.7 ARNT CREB3L1 ARID4B SIN3A YBX1 DMAP1 ZNF2 YY1 SLC30A9 ZNF207 ENSG00000230439 GCLM BCAR3 MIR760 CCDC18-AS1 DR1 TRR-TCT1-1 CCDC18 DNTTIP2 GC01P093855
GH01F093661 1.6 FANTOM5 Ensembl ENCODE 10.5 +241.6 241595 13.8 PKNOX1 ATF1 SIN3A GATA2 FOS KLF13 NCOA1 REST PPARG MEF2D DNTTIP2 LOC100129046 BCAR3 GCLM CCDC18-AS1 TMED5 EVI5 FNBP1L GC01M093613 LOC102723480
GH01F093960 1.3 Ensembl ENCODE 9.2 -51.5 -51536 1.2 PKNOX1 MLX FEZF1 ZNF2 YY1 GLIS2 ZNF302 ZNF263 SP3 SP5 MTCO3P21 ENSG00000233482 LOC107985092 DR1 CCDC18-AS1 DNTTIP2 GCLM GC01P093981 ENSG00000233129
GH01F093908 1.1 ENCODE 10.7 +0.3 299 2.1 PKNOX1 CREB3L1 ARID4B SIN3A SLC30A9 ZNF143 FOS KLF13 SP3 SP5 DNTTIP2 ENSG00000230439 CCDC18-AS1 DR1 GCLM
GH01F093978 1.2 Ensembl ENCODE 9.6 -70.1 -70124 2.8 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 MIER2 PPARG KAT8 GCLM GC01P093981 ENSG00000233129
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000078590 798 3200 PKNOX1 CREB3L1 ARID4B SIN3A SLC30A9 ZNF143 FOS KLF13 SP3 SP5

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

Post-translational modifications for GCLM Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GCLM Gene

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

Gene Ontology (GO) - Molecular Function for GCLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004357 contributes_to glutamate-cysteine ligase activity IMP 16183645
GO:0030234 enzyme regulator activity IBA --
GO:0035226 glutamate-cysteine ligase catalytic subunit binding IPI 9675072
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with GCLM: view
genes like me logo Genes that share phenotypes with GCLM: view

Animal Models for GCLM Gene

MGI Knock Outs for GCLM:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for GCLM Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GCLM gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 2
extracellular 1
peroxisome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for GCLM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0017109 glutamate-cysteine ligase complex IBA --
genes like me logo Genes that share ontologies with GCLM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot 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:0006534 cysteine metabolic process IEA --
GO:0006536 glutamate metabolic process IDA 9841880
GO:0006749 glutathione metabolic process IEA --
GO:0006750 glutathione biosynthetic process TAS --
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for GCLM Gene



Protein tissue co-expression partners for GCLM Gene

NURSA nuclear receptor signaling pathways regulating expression of GCLM Gene:

GCLM

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

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
chimpanzee
(Pan troglodytes)
Mammalia DNTTIP2 35
  • 100 (a)
OneToOne
GCLM 34
  • 99.76 (n)
dog
(Canis familiaris)
Mammalia GCLM 34 35
  • 94.68 (n)
cow
(Bos Taurus)
Mammalia GCLM 34 35
  • 94.28 (n)
rat
(Rattus norvegicus)
Mammalia Gclm 34
  • 91.48 (n)
mouse
(Mus musculus)
Mammalia Gclm 34 16 35
  • 91.36 (n)
oppossum
(Monodelphis domestica)
Mammalia GCLM 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCLM 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves GCLM 34 35
  • 76.13 (n)
lizard
(Anolis carolinensis)
Reptilia GCLM 35
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gclm 34
  • 70.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia gclm-prov 34
zebrafish
(Danio rerio)
Actinopterygii gclm 34 35
  • 66.27 (n)
wufi24c07 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4080 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012038 34
  • 46.38 (n)
fruit fly
(Drosophila melanogaster)
Insecta Gclm 34 35
  • 45.57 (n)
worm
(Caenorhabditis elegans)
Secernentea E01A2.1 34 35
  • 44.63 (n)
Species where no ortholog for GCLM was found in the sources mined by GeneCards:
  • 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
rs386352307 Uncertain significance 93,889,067(-) TGCGG(G/T)ATTCG reference, missense, utr-variant-3-prime
rs10489605 -- 93,886,825(+) ATGAA(C/T)GCTTG utr-variant-3-prime
rs10629524 -- 93,900,369(+) TGAGG(-/ACA)ACTTC intron-variant
rs10874807 -- 93,884,706(+) CACTG(C/T)GCCCG downstream-variant-500B
rs10874808 -- 93,885,177(+) TGAAT(G/T)AATGC downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv523355 CNV loss 19592680
esv3435342 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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GCLM

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

Disorders for GCLM Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
myocardial infarction
  • myocardial infarction, protection against
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. 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 22 46 64
  2. Combined effect of oxidative stress-related gene polymorphisms on atherosclerosis. (PMID: 19126404) Katakami N. … Yamasaki Y. (Biochem. Biophys. Res. Commun. 2009) 3 22 46 64
  3. Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia. (PMID: 19455074) Butticaz C. … Rivolta C. (Psychiatr. Genet. 2009) 3 22 46 64
  4. Glutamate cysteine ligase modifier (GCLM) subunit gene is not associated with methamphetamine-use disorder or schizophrenia in the Japanese population. (PMID: 18991850) Kishi T. … Iwata N. (Ann. N. Y. Acad. Sci. 2008) 3 22 46 64
  5. The relationship between polymorphisms in the glutamate cysteine ligase gene and asthma susceptibility. (PMID: 17643973) Polonikov A.V. … Panfilov V.I. (Respir Med 2007) 3 22 46 64

Products for GCLM Gene

Sources for GCLM Gene

Content
Loading form....