NCEH1
Neutral Cholesterol Ester Hydrolase 1
Gene Information Card
| Symbol | NCEH1 |
|---|---|
| Full Name | Neutral Cholesterol Ester Hydrolase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 57552 ncbi.nlm.nih.gov/gene/57552 |
| Ensembl ID | ENSG00000144891 |
| UniProt ID | Q6PIU2 |
| OMIM ID | 613234 |
| HGNC ID | 29225 |
| Aliases | KIAA1363, AADACL1, NCEH |
Description
NCEH1 encodes a neutral cholesterol ester hydrolase that catalyzes the hydrolysis of cholesteryl esters to free cholesterol and fatty acids. The enzyme is involved in lipid metabolism, particularly in macrophages and atherosclerotic plaques, and may play a role in foam cell formation and atherosclerosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atherosclerosis | Impaired cholesteryl ester hydrolysis in macrophages leads to foam cell accumulation | PMID: 19098287 |
| Alzheimer disease | Altered cholesterol metabolism in brain; NCEH1 expression changes observed | PMID: 21753178 |
| Obesity | NCEH1 deficiency in mice reduces adipose tissue inflammation | PMID: 23150577 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Brain | 6.1 | Low |
| Lung | 15.2 | Medium |
| Spleen | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.4 | Hepatocyte cell line |
| THP-1 | 22.1 | Monocyte/macrophage line |
| SH-SY5Y | 5.7 | Neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | missense | 0.01% (gnomAD) | Reduced hydrolase activity in vitro |
| c.152G>A (p.Arg51Gln) | missense | 0.005% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg349Trp reduces enzymatic activity
Gain of Function (GOF)
None reported
Dominant Negative (DN)
None reported
View complete mutation data：
Gene Ontology (GO)
| • cholesterol ester hydrolase activity | • lipid catabolic process |
| • endoplasmic reticulum | • cytoplasm |
Pathways
• Cholesterol metabolism
• Lipid digestion
• mobilization
• and transport
Protein Summary
NCEH1 is a 406-amino acid neutral cholesterol ester hydrolase localized to the endoplasmic reticulum. It belongs to the serine hydrolase family and is highly expressed in liver and macrophages. The enzyme plays a key role in cellular cholesterol homeostasis by converting stored cholesteryl esters into free cholesterol for efflux or metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NCEH1 Knockout HEK293 Cell Line | EDJ-KQ14391 | Human | 57552 | Details Get a Quote |
| NCEH1 Knockout A-549 Cell Line | EDJ-KQ44561 | Human | 57552 | Details Get a Quote |
| NCEH1 Knockout HCT 116 Cell Line | EDJ-KQ44562 | Human | 57552 | Details Get a Quote |
| NCEH1 Knockout HeLa Cell Line | EDJ-KQ43311 | Human | 57552 | Details Get a Quote |
