Gene Gene information from NCBI Gene database.
Entrez ID 2730
Gene name Glutamate-cysteine ligase modifier subunit
Gene symbol GCLM
Synonyms (NCBI Gene)
GLCLR
Chromosome 1
Chromosome location 1p22.1
Summary 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 s
miRNA miRNA information provided by mirtarbase database.
298
miRTarBase ID miRNA Experiments Reference
MIRT051314 hsa-miR-15a-5p CLASH 23622248
MIRT050382 hsa-miR-24-3p CLASH 23622248
MIRT638687 hsa-miR-4781-3p HITS-CLIP 23824327
MIRT638686 hsa-miR-3155a HITS-CLIP 23824327
MIRT638685 hsa-miR-3155b HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0004357 Function Glutamate-cysteine ligase activity IEA
GO:0004357 Function Glutamate-cysteine ligase activity IMP 16183645
GO:0005515 Function Protein binding IPI 9675072, 28514442, 32296183, 33961781
GO:0005829 Component Cytosol NAS 9895302
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601176 4312 ENSG00000023909
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48507
Protein name Glutamate--cysteine ligase regulatory subunit (GCS light chain) (Gamma-ECS regulatory subunit) (Gamma-glutamylcysteine synthetase regulatory subunit) (Glutamate--cysteine ligase modifier subunit)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red 70 241 Aldo/keto reductase family Domain
Tissue specificity TISSUE SPECIFICITY: In all tissues examined. Highest levels in skeletal muscle.
Sequence
Sequence length 274
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cysteine and methionine metabolism
Glutathione metabolism
Metabolic pathways
Biosynthesis of cofactors
Ferroptosis
  Glutathione synthesis and recycling
Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BERYLLIOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2 CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15254739
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 11774239
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 11774239
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 31271759
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29307609
★☆☆☆☆
Found in Text Mining only
Anemia, Hemolytic Anemia BEFREE 10515893, 10733484
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19126404
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 17643973
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19126404
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29440447 Associate
★☆☆☆☆
Found in Text Mining only