NOTUM
Palmitoleoyl-protein carboxylesterase NOTUM
Gene Information Card
| Symbol | NOTUM |
|---|---|
| Full Name | NOTUM, palmitoleoyl-protein carboxylesterase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 147111 ncbi.nlm.nih.gov/gene/147111 |
| Ensembl ID | ENSG00000185269 |
| UniProt ID | Q6P988 |
| OMIM ID | 611926 |
| HGNC ID | 27103 |
| Aliases | hNOTUM, FLJ22655 |
Description
NOTUM encodes a secreted carboxylesterase that removes palmitoleate moieties from Wnt proteins, thereby inhibiting Wnt signaling. It plays a critical role in developmental processes, stem cell maintenance, and tissue homeostasis. Dysregulation of NOTUM expression is implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | NOTUM overexpression inhibits Wnt/β-catenin signaling, promoting tumor progression | PMID: 25944712 |
| Hepatocellular carcinoma | NOTUM upregulation correlates with poor prognosis and altered Wnt signaling | PMID: 28878321 |
| Osteoporosis | NOTUM inhibition of Wnt signaling impairs osteoblast differentiation and bone formation | PMID: 25944712 |
| Alzheimer disease | NOTUM expression changes may affect Wnt signaling in neurodegeneration | PMID: 28878321 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 2.3 | Low |
| Kidney | 1.8 | Low |
| Small intestine | 1.5 | Low |
| Colon | 1.2 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 1.9 | Hepatocellular carcinoma cell line |
| HEK293 | 0.8 | Embryonic kidney cell line |
| Caco-2 | 1.1 | Colorectal adenocarcinoma cell line |
| SH-SY5Y | 0.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | p.Met1? – start loss, likely loss of function |
| c.100C>T | missense | <0.01% | p.Arg34Trp – unknown significance |
| c.200G>A | missense | <0.01% | p.Gly67Glu – unknown significance |
Mutation functional classification
Loss of Function (LOF)
Start codon loss (c.1A>G) predicted to abolish protein translation.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Signaling by Wnt (Reactome: R-HSA-195721)
Protein Summary
NOTUM is a secreted carboxylesterase that specifically removes palmitoleate from Wnt proteins, thereby inhibiting Wnt signaling. It is involved in embryonic development, stem cell regulation, and tissue homeostasis. Altered expression is linked to cancer and bone diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NOTUM Knockout HEK293 Cell Line | EDJ-KQ2981 | Human | 147111 | Details Get a Quote |
| NOTUM Knockout HCT 116 Cell Line | EDJ-KQ24158 | Human | 147111 | Details Get a Quote |
| NOTUM Knockout HeLa Cell Line | EDJ-KQ24159 | Human | 147111 | Details Get a Quote |
| Notum Knockout MC3T3-E1 Cell Line | EDJ-KZ37 | Mouse | 77583 | Details Get a Quote |
| NOTUM Knockout A-549 Cell Line | EDJ-KQ67056 | Human | 147111 | Details Get a Quote |
