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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 Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling 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 CIViC summary , 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
GH01G093877 1.1 ENCODE 24.9 +30.8 30804 2.7 CREB3L1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 SLC30A9 ZNF207 ENSG00000230439 GCLM MIR760 BCAR3 CCDC18-AS1 DR1 TRR-TCT1-1 CCDC18 DNTTIP2 GC01P093856
GH01G093661 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.5 +241.6 241595 13.8 PKNOX1 FOXA2 SIN3A FOS KLF13 REST MEF2D SMARCA4 GLIS1 RCOR2 CCDC18-AS1 DNTTIP2 SNORA66 LOC100129046 BCAR3 GCLM TMED5 EVI5 FNBP1L GC01M093613
GH01G093978 1.5 Ensembl ENCODE dbSUPER 9.6 -70.1 -70124 2.8 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 YY1 ZNF143 ZHX2 MIER2 GCLM GC01P093981 ENSG00000233129
GH01G093960 1.5 Ensembl ENCODE dbSUPER 9.2 -51.5 -51536 1.2 HNRNPUL1 PKNOX1 FOXA2 MLX FEZF1 ZNF2 YY1 GLIS2 ZNF302 ZNF263 GCLM GC01P093981 ENSG00000233129
GH01G093903 0.9 Ensembl ENCODE 14.5 +5.0 4955 1.7 PKNOX1 CEBPB MAX GABPA FOXA1 ZNF121 PRDM6 ZNF316 ETV6 FOXP2 GCLM DNTTIP2
- 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
ENSR00000010027 398 2001 PKNOX1 ARNT CREB3L1 ARID4B SIN3A SLC30A9 ZNF766 ZNF143 FOS KLF13

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

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

Clone 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:0006534 cysteine metabolic process IEA --
GO:0006536 glutamate metabolic process IDA 9841880
GO:0006749 glutathione metabolic process IEA --
GO:0006750 glutathione biosynthetic 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:

Inhibitory RNA Products

Clone 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 CGAP 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.

Evidence on tissue expression from TISSUES for GCLM Gene

  • Liver(4.6)
  • Nervous system(4.4)
  • Blood(2)
genes like me logo Genes that share expression patterns with GCLM: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 16 35 34
  • 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 35 34
  • 76.13 (n)
OneToOne
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
rs1000112976 -- 93,885,401(+) CTTTA(A/T)AATTT utr-variant-3-prime
rs1000302861 -- 93,893,147(+) AGAGA(C/T)TGTAT intron-variant
rs1000432721 -- 93,886,089(+) TTTTG(A/G)TGACT utr-variant-3-prime
rs1000641800 -- 93,890,978(+) CTCAA(C/T)GCATC intron-variant

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

Variant ID Type Subtype PubMed ID
esv3435342 CNV insertion 20981092
nsv523355 CNV loss 19592680

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
  • ancylostoma duodenale infection
- 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

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