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Aliases for GCLM Gene

Aliases for GCLM Gene

  • Glutamate-Cysteine Ligase, Modifier Subunit 2 3
  • GLCLR 3 4 6
  • Gamma-Glutamylcysteine Synthetase Regulatory Subunit 3 4
  • Glutamate--Cysteine Ligase Modifier Subunit 3 4
  • Gamma-ECS Regulatory Subunit 3 4
  • GCS Light Chain 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
  • Gamma-Glutamylcysteine Synthetase 2
  • GSC Light Chain 3

External Ids for GCLM Gene

Previous Symbols for GCLM Gene

  • GLCLR

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. [provided by RefSeq, Jul 2008]

GeneCards Summary for GCLM Gene

GCLM (Glutamate-Cysteine Ligase, Modifier Subunit) is a Protein Coding gene. Diseases associated with GCLM include myocardial infarction and ischemic heart disease. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein heterodimerization activity and glutamate-cysteine ligase catalytic subunit binding.

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

Genomic Location for GCLM Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GCLM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GCLM Gene

Regulatory Elements 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:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GCLM Gene

Domains for GCLM Gene

Protein Domains for GCLM Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

GSH0_HUMAN
Family:
  • Belongs to the aldo/keto reductase family. Glutamate--cysteine ligase light chain subfamily.:
    • P48507
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:

miRNA for GCLM Gene

miRTarBase miRNAs that target GCLM

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
nucleus 3
plasma membrane 3
mitochondrion 2
golgi apparatus 1
peroxisome 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

Pathways for GCLM Gene

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

Pathways by source for GCLM Gene

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 --
GO:0006750 glutathione biosynthetic process TAS --
genes like me logo Genes that share ontologies with GCLM: view

Compounds for GCLM Gene

(1) HMDB Compounds for GCLM Gene

Compound Synonyms Cas Number PubMed IDs
L-Cysteine
  • (+)-2-Amino-3-mercaptopropionic acid
52-90-4

(2) Drugbank Compounds for GCLM Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Cysteine
  • (R)-2-Amino-3-mercaptopropanoic acid
52-90-4 target
L-Glutamic Acid
  • (2S)-2-Aminopentanedioic acid
56-86-0 target

(9) Novoseek inferred chemical compound relationships for GCLM Gene

Compound -log(P) Hits PubMed IDs
gamma-glutamylcysteine 83 9
tbhq 80.7 8
buthionine sulfoximine 62.9 2
4-hydroxynonenal 55.5 4
diethylmaleate 52.7 2
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

Integrated Proteomics: protein expression 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 expressions with GCLM: view

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 37
  • 100 (a)
OneToOne
GCLM 36
  • 99.76 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia GCLM 36
  • 94.28 (n)
  • 95.99 (a)
GCLM 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GCLM 36
  • 94.68 (n)
  • 97.84 (a)
GCLM 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gclm 36
  • 91.36 (n)
  • 96.35 (a)
Gclm 16
Gclm 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GCLM 37
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GCLM 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gclm 36
  • 91.48 (n)
  • 95.99 (a)
chicken
(Gallus gallus)
Aves GCLM 36
  • 76.13 (n)
  • 78.21 (a)
GCLM 37
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GCLM 37
  • 78 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia gclm-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gclm 36
  • 70.09 (n)
  • 71.79 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4080 36
zebrafish
(Danio rerio)
Actinopterygii gclm 36
  • 66.27 (n)
  • 65.35 (a)
gclm 37
  • 63 (a)
OneToOne
wufi24c07 36
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012038 36
  • 46.38 (n)
  • 37.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta Gclm 36
  • 45.57 (n)
  • 36.29 (a)
Gclm 37
  • 28 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea E01A2.1 36
  • 44.63 (n)
  • 35.92 (a)
E01A2.1 37
  • 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 MAF
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
rs743119 -- 93,909,186(+) GGCCG(A/C)GCAGC utr-variant-5-prime

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

Relevant External Links for GCLM Gene

HapMap Linkage Disequilibrium report
GCLM
Human Gene Mutation Database (HGMD)
GCLM

Disorders for GCLM Gene

(1) OMIM Diseases for GCLM Gene (601176)

(2) Novoseek inferred disease relationships for GCLM Gene

Disease -log(P) Hits PubMed IDs
nsclc 18 3
adenocarcinoma 17.5 2

Relevant External Links for GCLM

Genetic Association Database (GAD)
GCLM
Human Genome Epidemiology (HuGE) Navigator
GCLM
genes like me logo Genes that share disorders with GCLM: view

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

Publications for GCLM Gene

  1. Polymorphism in glutamate-cysteine ligase modifier subunit gene is associated with impairment of nitric oxide-mediated coronary vasomotor function. (PMID: 12975258) Nakamura S. … Kugiyama K. (Circulation 2003) 3 23 49
  2. Polymorphisms in glutathione-related genes affect methylmercury retention. (PMID: 16599007) Custodio H.M. … Skerfving S. (Arch. Environ. Health 2004) 3 23 49
  3. [The relationship between the polymorphism of glutamate cysteine ligase modulatory subunit gene and the susceptibility to chronic obstructive pulmonary disease]. (PMID: 16677451) Hu R.C. … Dai A.G. (Zhonghua Jie He He Hu Xi Za Zhi 2006) 3 23 49
  4. 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 23 49
  5. 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 49

Products for GCLM Gene

Sources for GCLM Gene

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