Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GCLC (glutamate-cysteine ligase catalytic subunit)

Identity

Alias_namesGLCLC
GLCL
glutamate-cysteine ligase
Alias_symbol (synonym)GCS
Other aliasGCL
HGNC (Hugo) GCLC
LocusID (NCBI) 2729
Atlas_Id 46590
Location 6p12.1  [Link to chromosome band 6p12]
Location_base_pair Starts at 53497341 and ends at 53545129 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ATP11B (3q26.33) / GCLC (6p12.1)GCLC (6p12.1) / PDSS1 (10p12.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GCLC   4311
LRG (Locus Reference Genomic)LRG_1166
Cards
Entrez_Gene (NCBI)GCLC  2729  glutamate-cysteine ligase catalytic subunit
AliasesGCL; GCS; GLCL; GLCLC
GeneCards (Weizmann)GCLC
Ensembl hg19 (Hinxton)ENSG00000001084 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000001084 [Gene_View]  ENSG00000001084 [Sequence]  chr6:53497341-53545129 [Contig_View]  GCLC [Vega]
ICGC DataPortalENSG00000001084
TCGA cBioPortalGCLC
AceView (NCBI)GCLC
Genatlas (Paris)GCLC
WikiGenes2729
SOURCE (Princeton)GCLC
Genetics Home Reference (NIH)GCLC
Genomic and cartography
GoldenPath hg38 (UCSC)GCLC  -     chr6:53497341-53545129 -  6p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GCLC  -     6p12.1   [Description]    (hg19-Feb_2009)
EnsemblGCLC - 6p12.1 [CytoView hg19]  GCLC - 6p12.1 [CytoView hg38]
Mapping of homologs : NCBIGCLC [Mapview hg19]  GCLC [Mapview hg38]
OMIM230450   606857   608446   
Gene and transcription
Genbank (Entrez)AB262176 AB516284 AK094940 AK304288 AK313480
RefSeq transcript (Entrez)NM_001197115 NM_001498
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GCLC
Cluster EST : UnigeneHs.654465 [ NCBI ]
CGAP (NCI)Hs.654465
Alternative Splicing GalleryENSG00000001084
Gene ExpressionGCLC [ NCBI-GEO ]   GCLC [ EBI - ARRAY_EXPRESS ]   GCLC [ SEEK ]   GCLC [ MEM ]
Gene Expression Viewer (FireBrowse)GCLC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2729
GTEX Portal (Tissue expression)GCLC
Human Protein AtlasENSG00000001084-GCLC [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP48506   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP48506  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP48506
Splice isoforms : SwissVarP48506
Catalytic activity : Enzyme6.3.2.2 [ Enzyme-Expasy ]   6.3.2.26.3.2.2 [ IntEnz-EBI ]   6.3.2.2 [ BRENDA ]   6.3.2.2 [ KEGG ]   
PhosPhoSitePlusP48506
Domains : Interpro (EBI)GCS    Gln_synth/guanido_kin_cat_dom   
Domain families : Pfam (Sanger)GCS (PF03074)   
Domain families : Pfam (NCBI)pfam03074   
Conserved Domain (NCBI)GCLC
DMDM Disease mutations2729
Blocks (Seattle)GCLC
SuperfamilyP48506
Human Protein Atlas [tissue]ENSG00000001084-GCLC [tissue]
Peptide AtlasP48506
HPRD06032
IPIIPI00215768   IPI00966072   IPI00965695   IPI00965232   IPI00965983   IPI00965319   IPI00965660   IPI00966500   
Protein Interaction databases
DIP (DOE-UCLA)P48506
IntAct (EBI)P48506
FunCoupENSG00000001084
BioGRIDGCLC
STRING (EMBL)GCLC
ZODIACGCLC
Ontologies - Pathways
QuickGOP48506
Ontology : AmiGOmagnesium ion binding  glutamate-cysteine ligase activity  glutamate-cysteine ligase activity  glutamate-cysteine ligase activity  ATP binding  cytosol  cysteine metabolic process  glutamate metabolic process  glutathione biosynthetic process  glutathione biosynthetic process  glutathione biosynthetic process  glutathione biosynthetic process  response to oxidative stress  aging  response to nutrient  apoptotic mitochondrial changes  response to heat  response to xenobiotic stimulus  response to hormone  response to activity  glutamate binding  glutamate-cysteine ligase complex  L-ascorbic acid metabolic process  negative regulation of protein ubiquitination  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  cellular response to insulin stimulus  cellular response to hepatocyte growth factor stimulus  negative regulation of apoptotic process  negative regulation of neuron apoptotic process  ADP binding  cellular response to fibroblast growth factor stimulus  response to human chorionic gonadotropin  cell redox homeostasis  negative regulation of transcription, DNA-templated  response to arsenic-containing substance  response to cadmium ion  protein heterodimerization activity  coenzyme binding  regulation of blood vessel size  response to nitrosative stress  regulation of mitochondrial depolarization  response to interleukin-1  cellular response to mechanical stimulus  cellular response to glucose stimulus  cellular response to follicle-stimulating hormone stimulus  cellular response to thyroxine stimulus  negative regulation of hepatic stellate cell activation  negative regulation of extrinsic apoptotic signaling pathway  
Ontology : EGO-EBImagnesium ion binding  glutamate-cysteine ligase activity  glutamate-cysteine ligase activity  glutamate-cysteine ligase activity  ATP binding  cytosol  cysteine metabolic process  glutamate metabolic process  glutathione biosynthetic process  glutathione biosynthetic process  glutathione biosynthetic process  glutathione biosynthetic process  response to oxidative stress  aging  response to nutrient  apoptotic mitochondrial changes  response to heat  response to xenobiotic stimulus  response to hormone  response to activity  glutamate binding  glutamate-cysteine ligase complex  L-ascorbic acid metabolic process  negative regulation of protein ubiquitination  positive regulation of proteasomal ubiquitin-dependent protein catabolic process  cellular response to insulin stimulus  cellular response to hepatocyte growth factor stimulus  negative regulation of apoptotic process  negative regulation of neuron apoptotic process  ADP binding  cellular response to fibroblast growth factor stimulus  response to human chorionic gonadotropin  cell redox homeostasis  negative regulation of transcription, DNA-templated  response to arsenic-containing substance  response to cadmium ion  protein heterodimerization activity  coenzyme binding  regulation of blood vessel size  response to nitrosative stress  regulation of mitochondrial depolarization  response to interleukin-1  cellular response to mechanical stimulus  cellular response to glucose stimulus  cellular response to follicle-stimulating hormone stimulus  cellular response to thyroxine stimulus  negative regulation of hepatic stellate cell activation  negative regulation of extrinsic apoptotic signaling pathway  
Pathways : KEGGGlutathione metabolism   
NDEx NetworkGCLC
Atlas of Cancer Signalling NetworkGCLC
Wikipedia pathwaysGCLC
Orthology - Evolution
OrthoDB2729
GeneTree (enSembl)ENSG00000001084
Phylogenetic Trees/Animal Genes : TreeFamGCLC
HOVERGENP48506
HOGENOMP48506
Homologs : HomoloGeneGCLC
Homology/Alignments : Family Browser (UCSC)GCLC
Gene fusions - Rearrangements
Fusion : QuiverGCLC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGCLC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GCLC
dbVarGCLC
ClinVarGCLC
1000_GenomesGCLC 
Exome Variant ServerGCLC
ExAC (Exome Aggregation Consortium)ENSG00000001084
GNOMAD BrowserENSG00000001084
Varsome BrowserGCLC
Genetic variants : HAPMAP2729
Genomic Variants (DGV)GCLC [DGVbeta]
DECIPHERGCLC [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGCLC 
Mutations
ICGC Data PortalGCLC 
TCGA Data PortalGCLC 
Broad Tumor PortalGCLC
OASIS PortalGCLC [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGCLC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGCLC
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GCLC
DgiDB (Drug Gene Interaction Database)GCLC
DoCM (Curated mutations)GCLC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GCLC (select a term)
intoGenGCLC
Cancer3DGCLC(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM230450    606857    608446   
Orphanet10329   
DisGeNETGCLC
MedgenGCLC
Genetic Testing Registry GCLC
NextProtP48506 [Medical]
TSGene2729
GENETestsGCLC
Target ValidationGCLC
Huge Navigator GCLC [HugePedia]
snp3D : Map Gene to Disease2729
BioCentury BCIQGCLC
ClinGenGCLC
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2729
Chemical/Pharm GKB GenePA28612
Clinical trialGCLC
Miscellaneous
canSAR (ICR)GCLC (select the gene name)
Probes
Litterature
PubMed116 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGCLC
EVEXGCLC
GoPubMedGCLC
iHOPGCLC
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:08:06 CET 2018

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