LIPM: Lipase Family Member M

A comprehensive resource for LIPM gene information, including genomic data, expression, mutations, and associated diseases.

Gene Information Card

Symbol LIPM
Full Name lipase family member M
Gene Type protein-coding
Chromosomal Location 10q23.31
NCBI Gene ID 340204 ncbi.nlm.nih.gov/gene/340204
Ensembl ID ENSG00000198723
UniProt ID Q5VXJ0
OMIM ID 617119
HGNC ID 23452
Aliases bA425D10.1, LIPL, LIPM_HUMAN

Description

LIPM (lipase family member M) is a protein-coding gene located on chromosome 10q23.31. It encodes a member of the lipase family, which hydrolyzes triglycerides into free fatty acids and glycerol. LIPM is expressed in various tissues, particularly in the liver and adipose tissue, and may play a role in lipid metabolism. Mutations in LIPM have been associated with metabolic disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hypertriglyceridemia Loss of lipase activity leads to impaired triglyceride hydrolysis, causing elevated plasma triglycerides. ClinVar, OMIM
Obesity Altered LIPM expression may affect lipid storage and energy balance, contributing to obesity. NCBI Gene, PubMed

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Adipose Tissue 8.3 Medium
Small Intestine 5.1 Low
Pancreas 2.0 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 10.2 Hepatocellular carcinoma cell line
3T3-L1 7.8 Adipocyte precursor cell line
Caco-2 4.5 Colorectal adenocarcinoma cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.101C>T (p.Thr34Met) Missense 0.01% Reduced lipase activity
c.256G>A (p.Gly86Arg) Missense 0.005% Loss of function
Mutation functional classification

Loss of Function (LOF)

Missense mutations such as p.Thr34Met and p.Gly86Arg reduce or abolish lipase activity, impairing triglyceride hydrolysis.

Gain of Function (GOF)

No gain-of-function mutations reported.

Dominant Negative (DN)

No dominant-negative mutations reported.

Gene Ontology (GO)

• lipase activity • triglyceride lipase activity
• lipid metabolic process • extracellular region

Pathways

• Triglyceride metabolism
• Lipoprotein metabolism

Protein Summary

The LIPM protein is a 399-amino acid lipase that catalyzes the hydrolysis of triglycerides. It contains a conserved catalytic triad (Ser-Asp-His) typical of serine lipases. The protein is secreted and may function in extracellular lipid metabolism. UniProt ID: Q5VXJ0.

Related Products

Product name Cat.No. Species Gene ID
LIPM Knockout HEK293 Cell Line EDJ-KQ14085 Human 340654 Details Get a Quote
LIPM Knockout HeLa Cell Line EDJ-KQ59692 Human 340654 Details Get a Quote
LIPM Knockout A-549 Cell Line EDJ-KQ68163 Human 340654 Details Get a Quote
LIPM Knockout HCT 116 Cell Line EDJ-KQ76539 Human 340654 Details Get a Quote
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