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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LIPJ
lipase family member J
Chromosome 10 · 10q23.31
NCBI Gene: 142910Ensembl: ENSG00000204022.9HGNC: HGNC:21773UniProt: Q5W064
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
✦AI Summary

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.

Sources cited
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: 20598663
2
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: 27083848
3
Bacillus LipJ exhibits industrial potential; Ile137Met mutation conferred psychrophilic behavior with optimal activity at 20°C
PMID: 26520838
4
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.
Disease Associationsⓘ20
type 1 diabetes mellitusOpen Targets
0.29Weak
reading and spelling abilityOpen Targets
0.24Weak
type 2 diabetes mellitusOpen Targets
0.24Weak
uterine fibroidOpen Targets
0.23Weak
prostate carcinomaOpen Targets
0.23Weak
diabetes mellitusOpen Targets
0.23Weak
endometriosisOpen Targets
0.23Weak
Abnormality of refractionOpen Targets
0.22Weak
actinic keratosisOpen Targets
0.22Weak
myopiaOpen Targets
0.20Weak
glaucomaOpen Targets
0.20Weak
Hashimoto's thyroiditisOpen Targets
0.20Weak
VitiligoOpen Targets
0.19Weak
hypothyroidismOpen Targets
0.19Weak
androgenetic alopeciaOpen Targets
0.19Weak
Progressive visual lossOpen Targets
0.17Weak
liver diseaseOpen Targets
0.17Weak
nephrolithiasisOpen Targets
0.17Weak
endometriosis of pelvic peritoneumOpen Targets
0.16Weak
smoking initiationOpen Targets
0.16Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF202Shared pathway100%FAM135BShared pathway100%PLCXD1Shared pathway100%FAM135AShared pathway100%ABHD11Shared pathway100%ZNF670Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
52%
Ovary
48%
Brain
32%
Lung
24%
Heart
0%
Gene Interaction Network
Click a node to explore
LIPJZNF202FAM135BPLCXD1FAM135AABHD11ZNF670
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5W064
View on AlphaFold ↗
RankingsWhere LIPJ stands among ~20K protein-coding genes
  • #18,893of 20,598
    Most Researched3
Genes detectedLIPJ
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Point mutation Gln121-Arg increased temperature optima of Bacillus lipase (1.4 subfamily) by fifteen degrees.
PMID: 27083848
Int J Biol Macromol · 2016
1.00
2
Lipolysis and gestational diabetes mellitus onset: a case-cohort genome-wide association study in Chinese.
PMID: 36698149
J Transl Med · 2023
0.83
3
Comparative studies of mammalian acid lipases: Evidence for a new gene family in mouse and rat (Lipo).
PMID: 20598663
Comp Biochem Physiol Part D Genomics Proteomics · 2010
0.67
4
Point Mutation Ile137-Met Near Surface Conferred Psychrophilic Behaviour and Improved Catalytic Efficiency to Bacillus Lipase of 1.4 Subfamily.
PMID: 26520838
Appl Biochem Biotechnol · 2016
0.50
5
Trace elements concentration, tissue distribution, and associated health risks in wild and captive pantropical spotted dolphins (Stenella attenuata).
PMID: 40300520
J Hazard Mater · 2025
0.33