Gene Gene information from NCBI Gene database.
Entrez ID 2739
Gene name Glyoxalase I
Gene symbol GLO1
Synonyms (NCBI Gene)
GLOD1GLYIHEL-S-74
Chromosome 6
Chromosome location 6p21.2
Summary The enzyme encoded by this gene is responsible for the catalysis and formation of S-lactoyl-glutathione from methylglyoxal condensation and reduced glutatione. Glyoxalase I is linked to HLA and is localized to 6p21.3-p21.1, between HLA and the centromere
miRNA miRNA information provided by mirtarbase database.
1018
miRTarBase ID miRNA Experiments Reference
MIRT016416 hsa-miR-193b-3p Microarray 20304954
MIRT025781 hsa-miR-7-5p Microarray 19073608
MIRT032365 hsa-let-7b-5p Proteomics 18668040
MIRT050980 hsa-miR-17-5p CLASH 23622248
MIRT049258 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0004462 Function Lactoylglutathione lyase activity IDA 9705294, 11489834, 20454679, 23122816
GO:0004462 Function Lactoylglutathione lyase activity IEA
GO:0004462 Function Lactoylglutathione lyase activity TAS 7684374
GO:0005515 Function Protein binding IPI 32296183
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
138750 4323 ENSG00000124767
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q04760
Protein name Lactoylglutathione lyase (EC 4.4.1.5) (Aldoketomutase) (Glyoxalase I) (Glx I) (Ketone-aldehyde mutase) (Methylglyoxalase) (S-D-lactoylglutathione methylglyoxal lyase)
Protein function Catalyzes the conversion of hemimercaptal, formed from methylglyoxal and glutathione, to S-lactoylglutathione (PubMed:20454679, PubMed:23122816, PubMed:9705294). Involved in the regulation of TNF-induced transcriptional activity of NF-kappa-B (P
PDB 1BH5 , 1FRO , 1QIN , 1QIP , 3VW9 , 3W0T , 3W0U , 7WSZ , 7WT0 , 7WT1 , 7WT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00903 Glyoxalase 31 174 Glyoxalase/Bleomycin resistance protein/Dioxygenase superfamily Domain
Sequence
Sequence length 184
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyruvate metabolism
Metabolic pathways
  Pyruvate metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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
ANXIETY DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism, susceptibility to, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
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, Clear Cell Adenocarcinoma BEFREE 16803681
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 31174324
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 20542521, 24646268, 31059718
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 16352396, 18455873, 20542521, 24646268, 31059718
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety Disorders Anxiety Disorder CTD_human_DG 22113448
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic Anxiety Disorder CTD_human_DG 22113448
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 19412133, 25139743
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia BEFREE 1675045
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 19412133, 25139743
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 24767709, 27478003 Associate
★☆☆☆☆
Found in Text Mining only