CANT1: Calcium-Activated Nucleotidase 1
Gene encoding a calcium-dependent nucleotidase involved in extracellular nucleotide metabolism and skeletal development
Gene Information Card
| Symbol | CANT1 |
|---|---|
| Full Name | Calcium-Activated Nucleotidase 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 124583 ncbi.nlm.nih.gov/gene/124583 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | Q8WVQ1 |
| OMIM ID | 613165 |
| HGNC ID | 19721 |
| Aliases | SCAN-1, SCAN1, APY1 |
Description
CANT1 encodes a calcium-activated nucleotidase that hydrolyzes extracellular nucleotides (e.g., UDP, GDP) to nucleosides and phosphate. The enzyme is localized to the endoplasmic reticulum and Golgi apparatus and is involved in proteoglycan synthesis and skeletal development. Loss-of-function mutations cause Desbuquois dysplasia type 1, a severe skeletal disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Desbuquois dysplasia 1 | Loss-of-function mutations impair proteoglycan synthesis, leading to skeletal abnormalities | OMIM #251450; multiple homozygous/compound heterozygous mutations reported in patients |
| Multiple epiphyseal dysplasia (rare association) | Possible disruption of extracellular nucleotide signaling in cartilage | Limited case reports; further validation needed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 8.5 | Low |
| Brain | 12.3 | Medium |
| Cartilage | 45.2 | High |
| Heart | 15.1 | Medium |
| Kidney | 22.8 | Medium |
| Liver | 18.6 | Medium |
| Lung | 14.0 | Medium |
| Muscle | 6.7 | Low |
| Pancreas | 9.4 | Low |
| Placenta | 30.5 | High |
| Skin | 11.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 48.3 | High expression; consistent with role in cartilage |
| Fibroblasts | 22.1 | Moderate expression |
| HEK293 | 15.7 | Moderate expression |
| HeLa | 12.4 | Medium expression |
| HepG2 | 18.9 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.340C>T (p.Arg114*) | Nonsense | ~30% of Desbuquois cases | Loss of function; premature stop codon |
| c.742G>A (p.Gly248Arg) | Missense | ~15% of Desbuquois cases | Loss of function; impaired catalytic activity |
| c.1072C>T (p.Arg358Trp) | Missense | ~10% of Desbuquois cases | Loss of function; reduced protein stability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation |
Mutation functional classification
Loss of Function (LOF)
Majority of reported CANT1 mutations are loss-of-function (nonsense, missense, frameshift) leading to reduced or absent nucleotidase activity, causing Desbuquois dysplasia type 1.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Extracellular nucleotide metabolism (Reactome: R-HSA-418592)
• Glycosaminoglycan metabolism (Reactome: R-HSA-1630316)
Protein Summary
CANT1 is a 401-amino acid calcium-activated nucleotidase (EC 3.6.1.6) that preferentially hydrolyzes UDP and GDP. It contains a conserved apyrase domain and requires Ca2+ for activity. The protein localizes to the ER/Golgi and participates in proteoglycan sulfation and cartilage development. Defects cause Desbuquois dysplasia 1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CANT1 Knockout HEK293 Cell Line | EDJ-KQ2627 | Human | 124583 | Details Get a Quote |
| CANT1 Knockout A-549 Cell Line | EDJ-KQ23364 | Human | 124583 | Details Get a Quote |
| CANT1 Knockout HCT 116 Cell Line | EDJ-KQ23365 | Human | 124583 | Details Get a Quote |
| CANT1 Knockout HeLa Cell Line | EDJ-KQ23366 | Human | 124583 | Details Get a Quote |
