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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 t... See more...
Aliases for GCLC Gene
Aliases for GCLC Gene
External Ids for GCLC Gene
- HGNC: 4311
- Entrez Gene: 2729
- Ensembl: ENSG00000001084
- OMIM: 606857
- UniProtKB: P48506
Previous HGNC Symbols for GCLC Gene
- GLCLC
- GLCL
Previous GeneCards Identifiers for GCLC Gene
- GC06M053365
- GC06M053408
- GC06M053409
- GC06M053470
- GC06M053193
Summaries for GCLC 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. 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]
GeneCards Summary for GCLC Gene
GCLC (Glutamate-Cysteine Ligase Catalytic Subunit) is a Protein Coding gene. Diseases associated with GCLC include Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To and Myocardial Infarction. Among its related pathways are One carbon pool by folate and Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and coenzyme binding.
Additional gene information for GCLC Gene
- HGNC(4311)
- Entrez Gene(2729)
- Ensembl(ENSG00000001084)
- OMIM(606857)
- UniProtKB(P48506)
- Open Targets Platform(ENSG00000001084)
- Monarch Initiative
- Search for GCLC at DataMed
- Search for GCLC at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GCLC Gene
Genomics for GCLC Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for GCLC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around GCLC on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GCLC
- Top Transcription factor binding sites by QIAGEN in the GCLC gene promoter:
-
- AML1a
- AP-1
- ATF-2
- c-Jun
- c-Myc
- Max1
- Nkx6-1
- Pax-4a
- SREBP-1a
- TBP
Genomic Locations for GCLC Gene
Genomic Locations for GCLC Gene
- chr6:53,497,341-53,616,970
- (GRCh38/hg38)
- Size:
- 119,630 bases
- Orientation:
- Minus strand
- chr6:53,362,139-53,481,768
- (GRCh37/hg19)
- Size:
- 119,630 bases
- Orientation:
- Minus strand
Genomic View for GCLC Gene
Genes around GCLC on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p12.1 by HGNC
- 6p12.1 by Entrez Gene
- 6p12.1 by Ensembl
GCLC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for GCLC Gene
Proteins for GCLC Gene
-
Protein details for GCLC Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P48506-GSH1_HUMAN
- Recommended name:
- Glutamate--cysteine ligase catalytic subunit
- Protein Accession:
- P48506
- Q14399
Protein attributes for GCLC Gene
- Size:
- 637 amino acids
- Molecular mass:
- 72766 Da
- Quaternary structure:
-
- Heterodimer of a catalytic heavy chain and a regulatory light chain.
Protein Expression for GCLC Gene
Selected DME Specific Peptides for GCLC Gene
- P48506:
-
- DHFENIQSTNWQTMRFKPPPPNS
- CLQVTFQA
- ISASVDDRT
- MIEGTPG
- GIDHLLAQHVAHLFIRD
- KSRYDSIDSY
- ALSAASP
- INVPIFKD
Post-translational modifications for GCLC Gene
Other Protein References for GCLC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ GCSc-? Antibody
- NSJ Bioreagents GCLC Antibody
-
Custom Antibody ServicesOriGene Antibodies for GCLC
- Novus Biologicals Antibodies for GCLC
-
Abcam antibodies for GCLC
- Invitrogen Antibodies for GCLC (AFLGC-Gclc)
- antibodies-online: Show 44 available GCLC Antibodies ranked by validation data
- Compare Top GCLC Antibodies
-
Recommended
- 94 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 45 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 43 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for GCLC
Protein Products
-
OriGene Purified Proteins for GCLC
- Search Origene for MassSpec and Protein Over-expression Lysates for GCLC
- Origene Custom Protein Services for GCLC
-
Abcam proteins for GCLC
Assay Products
-
Signalway ELISA kits for GCLC
-
Abcam assays for GCLC
Domains & Families for GCLC Gene
Gene Families for GCLC Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for GCLC Gene
- InterPro:
- Blocks:
-
- Glutamate-cysteine ligase catalytic subunit
- ProtoNet:
Suggested Antigen Peptide Sequences for GCLC Gene
- GenScript: Design optimal peptide antigens:
-
- Glutamate-cysteine ligase delta4 alternative splicing variant (E1CEI4_HUMAN)
- Gamma-glutamylcysteine synthetase (GSH1_HUMAN)
- cDNA, FLJ94028, Homo sapiens glutamate-cysteine ligase, catalytic subunit (GCLC),mRNA (Q14TF0_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P48506- Family:
-
- Belongs to the glutamate--cysteine ligase type 3 family.
Function for GCLC Gene
Molecular function for GCLC Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-cysteine + L-glutamate = ADP + H(+) + L-gamma-glutamyl-L-cysteine + phosphate; Xref=Rhea:RHEA:13285, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:35235, ChEBI:CHEBI:43474, ChEBI:CHEBI:58173, ChEBI:CHEBI:456216; EC=6.3.2.2;.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Feedback inhibition by glutathione.
Enzyme Numbers (IUBMB) for GCLC Gene
Phenotypes From GWAS Catalog for GCLC Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000166 | nucleotide binding | IEA | -- |
| GO:0000287 | magnesium ion binding | IDA | 24639 |
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004357 | glutamate-cysteine ligase activity | IEA,IMP | 9841880 |
| GO:0005515 | protein binding | IPI | 9675072 |
Phenotypes for GCLC Gene
- MGI mutant phenotypes for GCLC:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for GCLC:
-
- Increased vaccinia virus (VACV) infection
- no effect
- shRNA abundance <= 50%
- Increased shRNA abundance (Z-score > 2)
- Decreased influenza A/WSN/33 replication
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Decreased IL-8 secretion
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased shRNA abundance (Z-score < -2)
- Decreased ionizing radiation sensitivity
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GCLC - Select products 50% OFF >
- * GCLC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GCLC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GCLC
-
Santa Cruz Biotechnology (SCBT) CRISPR for GCLC
miRNA for GCLC Gene
- miRTarBase miRNAs that target GCLC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GCLC
- Browse OriGene Inhibitory RNA Products For GCLC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCLC
Clone Products
- Applied Biological Materials (abm): Clones for GCLC - Select products 50% OFF >
- * GCLC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GCLC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GCLC
No data available for Transcription Factor Targets and HOMER Transcription for GCLC Gene
Localization for GCLC Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| mitochondrion | 4 |
| nucleus | 4 |
| plasma membrane | 2 |
| extracellular | 2 |
| cytoskeleton | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| endosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Nucleoli (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005623 | cell | IEA | -- |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005829 | cytosol | IEA,TAS | -- |
| GO:0017109 | glutamate-cysteine ligase complex | IDA | 9675072 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for GCLC Gene
Pathways & Interactions for GCLC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glutathione metabolism |
Glutathione metabolism
.60
|
|
| 2 | Sulfur amino acid metabolism | ||
| 3 | Metabolism |
.40
|
|
| 4 | Cytochrome P450 - arranged by substrate type | ||
| 5 | Ferroptosis | ||
Pathways by source for GCLC Gene
8 BioSystems pathways for GCLC Gene
7 Reactome pathways for GCLC Gene
4 KEGG pathways for GCLC Gene
1 GeneGo (Thomson Reuters) pathway for GCLC Gene
- Glutathione metabolism
UniProtKB/Swiss-Prot P48506-GSH1_HUMAN
- Pathway: Sulfur metabolism; glutathione biosynthesis; glutathione from L-cysteine and L-glutamate: step 1/2.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006534 | cysteine metabolic process | IDA | 2294991 |
| GO:0006536 | glutamate metabolic process | IDA | 2294991 |
| GO:0006749 | glutathione metabolic process | IEA | -- |
| GO:0006750 | glutathione biosynthetic process | IEA,TAS | -- |
| GO:0006979 | response to oxidative stress | IEA,IDA | 10395918 |
Drugs & Compounds for GCLC Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Cysteine | Approved | Nutra | Target | 250 | ||
| Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target, substrate | 304 | ||
| Vitamin E | Approved, Vet_approved | Nutra | Enzyme, inducer | 526,534 | ||
| alpha-Tocopherol acetate | Approved, Vet_approved | Nutra | Enzyme, inducer | 0 | ||
| alpha-Tocopherol succinate | Approved, Vet_approved | Nutra | Enzyme, inducer | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
||
| Phosphate |
|
14066-19-4, 14265-44-2 |
|
Transcripts for GCLC Gene
mRNA/cDNA for GCLC Gene
- 2 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000504353 597 nts (view in UCSC)
- ENST00000504525 1011 nts (view in UCSC)
- ENST00000505197 592 nts (view in UCSC)
- ENST00000505294 847 nts (view in UCSC)
- ENST00000509541 3774 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for GCLC - Select products 50% OFF >
- * GCLC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for GCLC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GCLC
-
Santa Cruz Biotechnology (SCBT) CRISPR for GCLC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GCLC
- Browse OriGene Inhibitory RNA Products For GCLC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCLC
Clone Products
- Applied Biological Materials (abm): Clones for GCLC - Select products 50% OFF >
- * GCLC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for GCLC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GCLC
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP7: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - |
Relevant External Links for GCLC Gene
- GeneLoc Exon Structure for
- GCLC
Expression for GCLC Gene
This gene is overexpressed in Lymph node (9.9) and Spleen (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GCLC Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GCLC
SOURCE GeneReport for Unigene cluster for GCLC Gene:
Hs.654465Evidence on tissue expression from TISSUES for GCLC Gene
- Nervous system(4.9)
- Liver(4.7)
- Lung(3.1)
- Heart(2.9)
- Kidney(2.8)
- Blood(2.7)
- Skin(2.7)
- Intestine(2.7)
- Eye(2.6)
- Muscle(2.6)
- Stomach(2.5)
- Spleen(2.4)
- Adrenal gland(2.4)
- Pancreas(2.3)
- Bone marrow(2.3)
- Thyroid gland(2.1)
- Lymph node(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for GCLC Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- head
General:
- blood
- peripheral nerve
- peripheral nervous system
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for GCLC
-
OriGene qPCR primer pairs and template standards for GCLC
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for GCLC Gene
Orthologs for GCLC Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | GCLC 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | GCLC 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | GCLC 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | GCLC 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Gclc 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Gclc 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GCLC 30 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | GCLC 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | GCLC 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gclc 30 |
|
||
| Str.15467 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.3837 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | gclc 30 31 |
|
OneToOne | |
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8363 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001512 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Gclc 30 31 32 |
|
OneToOne | |
| Worm (Caenorhabditis elegans) |
Secernentea | gcs-1 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GSH1 30 31 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F14058g 30 |
|
||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR086C 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | gcs1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10402 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU01157 30 |
|
- Species where no ortholog for GCLC was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- 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 Vase (Ciona intestinalis)
- 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 GCLC Gene
- ENSEMBL:
- Gene Tree for GCLC (if available)
- TreeFam:
- Gene Tree for GCLC (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for GCLC: view image
Paralogs for GCLC Gene
No data available for Paralogs for GCLC Gene
Variants for GCLC Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GCLC Gene
| SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 708373 | Benign: not provided | 53,500,265(-) | G/A | SYNONYMOUS_VARIANT | |
| 715730 | Likely Benign: not provided | 53,507,525(-) | C/T | MISSENSE_VARIANT | |
| 727095 | Likely Benign: not provided | 53,508,688(-) | G/C | SYNONYMOUS_VARIANT | |
| 732959 | Benign: not provided | 53,500,304(-) | C/T | SYNONYMOUS_VARIANT | |
| 763977 | Benign: not provided | 53,507,580(-) | T/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2763940 | CNV | gain+loss | 21179565 |
Residual Variation Intolerance Score:
25.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.08;
38.00% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for GCLC Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GCLC Gene
Disorders for GCLC Gene
(9) MalaCards diseases for GCLC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to |
|
|
| myocardial infarction |
|
|
| hemolytic anemia |
|
|
| glutamate-cysteine ligase deficiency |
|
|
| spinocerebellar degeneration |
|
|
Search GCLC in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
GSH1_HUMAN- Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD) [MIM:230450]: A disease characterized by hemolytic anemia, glutathione deficiency, myopathy, late-onset spinocerebellar degeneration, and peripheral neuropathy. {ECO:0000269 PubMed:10515893, ECO:0000269 PubMed:10733484, ECO:0000269 PubMed:12663448}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for GCLC
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for GCLC Gene
Publications for GCLC Gene
- Cloning and nucleotide sequence of a full-length cDNA for human liver gamma-glutamylcysteine synthetase. (PMID: 1350904) Gipp JJ … Mulcahy RT (Biochemical and biophysical research communications 1992) 2 3 4 23
- Association of polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes in non-alcoholic fatty liver disease. (PMID: 19817962) Oliveira CP … Corrêa-Giannella ML (Journal of gastroenterology and hepatology 2010) 3 23 41
- Genetic background of lead and mercury metabolism in a group of medical students in Austria. (PMID: 19515364) Gundacker C … Gencik M (Environmental research 2009) 3 23 41
- Evaluation of glutathione metabolic genes on outcomes in advanced non-small cell lung cancer patients after initial treatment with platinum-based chemotherapy: an NCCTG-97-24-51 based study. (PMID: 19347979) Yang P … Jett JR (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2009) 3 23 41
- Lung function loss, smoking, vitamin C intake, and polymorphisms of the glutamate-cysteine ligase genes. (PMID: 18420959) Siedlinski M … Boezen HM (American journal of respiratory and critical care medicine 2008) 3 23 41
ExternalLinks
Products for GCLC Gene
- Custom Antibody ServicesOriGene Antibodies for GCLC
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GCLC
- Search Origene for MassSpec and Protein Over-expression Lysates for GCLC
- Origene Custom Protein Services for GCLC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GCLC
- Browse OriGene Inhibitory RNA Products For GCLC
- OriGene qPCR primer pairs for GCLC
- OriGene qPCR primer pairs and template standards for GCLC
- OriGene CRISPR knockouts for GCLC
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GCLC
- Sino Biological Human cDNA Clone for GCLC
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GCLC
- Novus Biologicals proteins and lysates for GCLC
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GCLC
- Abcam proteins for GCLC
- Abcam assays for GCLC
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for GCLC (AFLGC-Gclc)
- VectorBuilder Custom and pre-made DNA vectors for GCLC (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for GCLC (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for GCLC (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for GCLC CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for GCLC
- antibodies-online: Show 44 available GCLC Antibodies ranked by validation data
- Compare Top GCLC Antibodies
- Recommended
- 94 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 1 IHC (p) Antibody (anti-human)
- 45 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 43 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 1 IHC Antibody (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- antibodies-online: Show 38 available GCLC Elisa Kits ranked by validation data
- Compare Top GCLC Elisa Kits
- antibodies-online: Show 13 available GCLC Proteins ranked by validation data
- Compare Top GCLC Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for GCLC
- Search Santa Cruz Biotechnology (SCBT) for GCLC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GCLC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GCLC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GCLC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for GCLC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GCLC
Sources for GCLC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB