6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipase activitylipid metabolic processhydrolase activity, acting on ester bondscarboxylic ester hydrolase activitytype 1 diabetes mellitusreading and spelling abilitytype 2 diabetes mellitusuterine fibroid
LIPJ (lipase family member J) is an acid lipase belonging to the AB hydrolase superfamily that catalyzes triglyceride hydrolysis 1. Originally identified as a testis-specific acid lipase 1, LIPJ exhibits lipase activity and participates in lipid metabolic processes. The enzyme is a member of a mammalian acid lipase gene family that arose through gene duplication events prior to eutherian evolution 1.
LIPJ has been extensively characterized through protein engineering studies. The Bacillus LipJ variant exhibits alkaline pH optimum and broad substrate specificity 23. Engineering efforts have successfully modified its catalytic properties: a Gln121Arg point mutation increased temperature optimum from 37°C to 50°C with six-fold enhanced half-life at elevated temperatures 2, while an Ile137Met substitution conferred psychrophilic behavior, enabling optimal activity at 20°C 3.
Clinically, LIPJ is implicated in gestational diabetes mellitus (GDM) pathogenesis. Genome-wide association studies in Chinese women identified LIPJ among genes significantly enriched in lipolysis-related pathways associated with GDM risk 4. These findings suggest energy metabolism and lipolysis may play important roles in GDM aetiology, warranting further molecular investigation 4.
1
LIPJ is an acid lipase in the AB hydrolase superfamily, originally identified as testis-specific, member of mammalian acid lipase gene family arising from ancestral gene duplication
PMID: 205986632
Bacillus LipJ has alkaline pH optimum and broad substrate specificity; Gln121Arg mutation increased temperature optimum from 37°C to 50°C with enhanced thermostability
PMID: 270838483
Bacillus LipJ exhibits industrial potential; Ile137Met mutation conferred psychrophilic behavior with optimal activity at 20°C
PMID: 265208384
LIPJ is associated with gestational diabetes mellitus risk in Chinese women through lipolysis-related pathways identified in genome-wide association study
PMID: 36698149⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
type 1 diabetes mellitusOpen Targets
reading and spelling abilityOpen Targets
type 2 diabetes mellitusOpen Targets
uterine fibroidOpen Targets
prostate carcinomaOpen Targets
diabetes mellitusOpen Targets
endometriosisOpen Targets
Abnormality of refractionOpen Targets
actinic keratosisOpen Targets
Hashimoto's thyroiditisOpen Targets
hypothyroidismOpen Targets
androgenetic alopeciaOpen Targets
Progressive visual lossOpen Targets
liver diseaseOpen Targets
nephrolithiasisOpen Targets
endometriosis of pelvic peritoneumOpen Targets
smoking initiationOpen Targets
No pathogenic variants reported on ClinVar for this gene.