ENSG00000001084


Homo sapiens

Features
Gene ID: ENSG00000001084
  
Biological name :GCLC
  
Synonyms : GCLC / glutamate-cysteine ligase catalytic subunit / P48506
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p12.1
Gene start: 53497341
Gene end: 53616970
  
Corresponding Affymetrix probe sets: 1555330_at (Human Genome U133 Plus 2.0 Array)   202922_at (Human Genome U133 Plus 2.0 Array)   202923_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421228
Ensembl peptide - ENSP00000495686
Ensembl peptide - ENSP00000495056
Ensembl peptide - ENSP00000482756
Ensembl peptide - ENSP00000427403
Ensembl peptide - ENSP00000424211
Ensembl peptide - ENSP00000421908
Ensembl peptide - ENSP00000229416
NCBI entrez gene - 2729     See in Manteia.
OMIM - 606857
RefSeq - XM_017010749
RefSeq - NM_001197115
RefSeq - NM_001498
RefSeq Peptide - NP_001489
RefSeq Peptide - NP_001184044
swissprot - H0Y9I7
swissprot - Q14TF0
swissprot - E1CEI4
swissprot - P48506
swissprot - D6RGF8
swissprot - A0A0C4DGB2
swissprot - B4E2I4
swissprot - D6RIT4
Ensembl - ENSG00000001084
  
Related genetic diseases (OMIM): 230450 - Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450
  608446 - {Myocardial infarction, susceptibility to}, 608446
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gclcENSDARG00000013095Danio rerio
 GCLCENSGALG00000016313Gallus gallus
 GclcENSMUSG00000032350Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR004308  Glutamate-cysteine ligase catalytic subunit
 IPR014746  Glutamine synthetase/guanido kinase, catalytic domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006534 cysteine metabolic process IDA
 biological_processGO:0006536 glutamate metabolic process IDA
 biological_processGO:0006749 glutathione metabolic process IEA
 biological_processGO:0006750 glutathione biosynthetic process IEA
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008637 apoptotic mitochondrial changes IEA
 biological_processGO:0009408 response to heat IDA
 biological_processGO:0009410 response to xenobiotic stimulus IEA
 biological_processGO:0009725 response to hormone IDA
 biological_processGO:0014823 response to activity IEA
 biological_processGO:0019852 L-ascorbic acid metabolic process IEA
 biological_processGO:0031397 negative regulation of protein ubiquitination IEA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0032869 cellular response to insulin stimulus IEA
 biological_processGO:0035729 cellular response to hepatocyte growth factor stimulus IEA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0044344 cellular response to fibroblast growth factor stimulus IEA
 biological_processGO:0044752 response to human chorionic gonadotropin IEA
 biological_processGO:0045454 cell redox homeostasis IDA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IDA
 biological_processGO:0046685 response to arsenic-containing substance IEA
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0050880 regulation of blood vessel size IMP
 biological_processGO:0051409 response to nitrosative stress IEA
 biological_processGO:0051900 regulation of mitochondrial depolarization IEA
 biological_processGO:0070555 response to interleukin-1 IEA
 biological_processGO:0071260 cellular response to mechanical stimulus IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0071372 cellular response to follicle-stimulating hormone stimulus IEA
 biological_processGO:0097069 cellular response to thyroxine stimulus IEA
 biological_processGO:2000490 negative regulation of hepatic stellate cell activation IEA
 biological_processGO:2001237 negative regulation of extrinsic apoptotic signaling pathway IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0017109 glutamate-cysteine ligase complex IEA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0000287 magnesium ion binding IDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004357 glutamate-cysteine ligase activity IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016595 glutamate binding IDA
 molecular_functionGO:0016874 ligase activity IEA
 molecular_functionGO:0043531 ADP binding IDA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0050662 coenzyme binding IPI


Pathways (from Reactome)
Pathway description
Glutathione synthesis and recycling
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001271 Polyneuropathy "A generalized disorder of peripheral nerves." [HPO:curators]
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 HP:0001878 Hemolytic anemia 
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 HP:0001903 Anemia 
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 HP:0001939 Metabolism abnormality 
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 HP:0003198 Myopathy 
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 HP:0006904 Late-onset spinocerebellar degeneration 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000023909 GCLM / P48507 / glutamate-cysteine ligase modifier subunit  / complex






 

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