TUFT1 Gene (Tuftelin 1)
Gene encoding tuftelin, an enamel matrix protein implicated in dental development and cancer progression
Gene Information Card
| Symbol | TUFT1 |
|---|---|
| Full Name | Tuftelin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q21.3 |
| NCBI Gene ID | 7286 ncbi.nlm.nih.gov/gene/7286 |
| Ensembl ID | ENSG00000143367 |
| UniProt ID | Q9NNX1 |
| OMIM ID | 600567 |
| HGNC ID | 12420 |
| Aliases | TUFTELIN, FLJ10154 |
Description
TUFT1 encodes tuftelin, a protein involved in the mineralization of enamel during tooth development. It is expressed in ameloblasts and has been implicated in various cancers, where it may promote cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amelogenesis imperfecta | Disrupted enamel mineralization due to TUFT1 mutations | OMIM |
| Breast cancer | Overexpression promotes tumor growth and metastasis | NCBI Gene |
| Pancreatic cancer | Upregulation associated with poor prognosis | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Salivary gland | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Liver | 6.1 | Low |
| Testis | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| PANC-1 (pancreatic cancer) | 11.8 | Moderate expression |
| HEK293 (embryonic kidney) | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.646C>T (p.Arg216Trp) | Missense | Rare | Unknown |
| c.1024G>A (p.Glu342Lys) | Missense | Rare | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential impact on enamel formation
Gain of Function (GOF)
Overexpression in cancers suggests possible oncogenic role
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • calcium ion binding |
| • biomineralization | • enamel mineralization |
Pathways
• Enamel formation
• Wnt signaling pathway (via interaction with β-catenin)
Protein Summary
Tuftelin is a 390-amino-acid protein with a signal peptide and calcium-binding domains. It is secreted into the enamel matrix and may also localize to the nucleus, where it influences gene expression. In cancer, TUFT1 overexpression activates Wnt/β-catenin signaling, promoting cell proliferation and invasion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TUFT1 Knockout HEK293 Cell Line | EDJ-KQ5987 | Human | 7286 | Details Get a Quote |
| TUFT1 Knockout A-549 Cell Line | EDJ-KQ29563 | Human | 7286 | Details Get a Quote |
| TUFT1 Knockout HCT 116 Cell Line | EDJ-KQ29564 | Human | 7286 | Details Get a Quote |
| TUFT1 Knockout HeLa Cell Line | EDJ-KQ29565 | Human | 7286 | Details Get a Quote |
