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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CANT1
calcium activated nucleotidase 1
Chromosome 17 Β· 17q25.3
NCBI Gene: 124583Ensembl: ENSG00000171302.18HGNC: HGNC:19721UniProt: Q8WVQ1
63PubMed Papers
22Diseases
0Drugs
50Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium ion bindingextracellular exosomepositive regulation of canonical NF-kappaB signal transductionGDP phosphatase activityDesbuquois syndromeDesbuquois dysplasia 1multiple epiphyseal dysplasiagenetic disorder
✦AI Summary

CANT1 (calcium-activated nucleotidase 1) is a calcium-dependent phosphatase with substrate specificity for UDP, GDP, and other nucleotides, exhibiting minimal activity toward ADP and ATP 12. The protein plays a critical role in proteoglycan synthesis 3 and is essential for normal skeletal development, with deficiency causing developmental abnormalities 4. Mechanistically, CANT1 promotes cell proliferation and invasion in lung adenocarcinoma through NF-ΞΊB pathway activation 5. Knockdown of CANT1 results in decreased cell proliferation, invasion, and G1 phase cell-cycle arrest 6. The protein's expression is regulated by DNA methylation, with hypomethylation associated with elevated expression 6. Clinically, CANT1 overexpression correlates with poor prognosis across multiple cancers, including lung adenocarcinoma, hepatocellular carcinoma, and glioma, with high expression independently predicting adverse overall survival 768. CANT1 expression associates with immune cell infiltration and immune checkpoints 78. Pathogenic CANT1 variants cause Desbuquois dysplasia and multiple epiphyseal dysplasia, skeletal developmental disorders affecting epiphyseal development 9. The gene represents a potential therapeutic target for both cancer immunotherapy and skeletal development disorders 47.

Sources cited
1
Substrate specificity of CANT1 for nucleotides
PMID: 12234496
2
CANT1 nucleotidase activity preferences and substrate ranking
PMID: 15006348
3
CANT1 involvement in proteoglycan synthesis
PMID: 22539336
4
CANT1 linked to calcium signaling crucial for spinal development; deficiency causes skeletal developmental issues
PMID: 40775174
5
CANT1 promotes lung cancer cell proliferation through NF-ΞΊB signaling pathway activation
PMID: 35068336
6
CANT1 knockdown decreases cell proliferation, invasion, and causes G1 phase cell-cycle arrest; high expression correlates with poor overall survival in lung adenocarcinoma
PMID: 35090419
7
CANT1 overexpression associated with adverse overall survival in multiple cancers and correlates with immune cell infiltration and immune checkpoints
PMID: 38369265
8
CANT1 overexpression in hepatocellular carcinoma correlates with poor prognosis and immune cell infiltration
PMID: 37858061
9
Pathogenic CANT1 variants cause Desbuquois dysplasia and multiple epiphyseal dysplasia
PMID: 39618316
Disease Associationsβ“˜22
Desbuquois syndromeOpen Targets
0.79Strong
Desbuquois dysplasia 1Open Targets
0.76Strong
multiple epiphyseal dysplasiaOpen Targets
0.72Strong
genetic disorderOpen Targets
0.47Moderate
Desbuquois dysplasiaOpen Targets
0.46Moderate
hydrops fetalisOpen Targets
0.37Weak
Non-immune hydrops fetalisOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.27Weak
Joint dislocationOpen Targets
0.27Weak
Short statureOpen Targets
0.27Weak
hepatocellular carcinomaOpen Targets
0.20Weak
lung adenocarcinomaOpen Targets
0.20Weak
clear cell renal carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
bladder transitional cell carcinomaOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.19Weak
squamous cell lung carcinomaOpen Targets
0.19Weak
bile duct carcinomaOpen Targets
0.18Weak
multiple myelomaOpen Targets
0.18Weak
Desbuquois dysplasia 1UniProt
Epiphyseal dysplasia, multiple, 7UniProt
Pathogenic Variants50
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)Pathogenic
Desbuquois dysplasia 1|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 93
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)Pathogenic
Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7|not provided|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 226
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu)Likely pathogenic
Desbuquois dysplasia 1|CANT1-related disorder|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 299
NM_001159773.2(CANT1):c.836-9G>APathogenic
not provided|Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2025
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys)Pathogenic
not provided|Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2025β†’ Residue 215
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu)Pathogenic
not provided|Desbuquois dysplasia 1|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 245
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs)Pathogenic
Desbuquois dysplasia 1|not provided|CANT1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 303
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)Pathogenic
Desbuquois dysplasia 1|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 300
NM_001159773.2(CANT1):c.188del (p.Arg63fs)Pathogenic
not provided|Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7
β˜…β˜…β˜†β˜†2024β†’ Residue 63
NM_001159773.2(CANT1):c.228dup (p.Trp77fs)Pathogenic
Desbuquois dysplasia 1|not provided|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 77
NM_001159773.2(CANT1):c.258G>A (p.Trp86Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 86
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg)Likely pathogenic
Joint dislocation;Short stature|Desbuquois dysplasia 1;Epiphyseal dysplasia, multiple, 7
β˜…β˜…β˜†β˜†2024β†’ Residue 247
NM_001159773.2(CANT1):c.278del (p.Leu93fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 93
NM_001159773.2(CANT1):c.71dup (p.Leu25fs)Pathogenic
not provided|Epiphyseal dysplasia, multiple, 7;Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2024β†’ Residue 25
NM_001159773.2(CANT1):c.347_348del (p.Glu116fs)Pathogenic
not provided|Desbuquois dysplasia 1
β˜…β˜…β˜†β˜†2023β†’ Residue 116
NM_001159773.2(CANT1):c.885G>A (p.Trp295Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 295
NM_001159773.2(CANT1):c.595del (p.Trp198_Val199insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 198
NM_001159773.2(CANT1):c.360_370del (p.Gln120fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 120
NM_001159773.2(CANT1):c.350C>G (p.Ser117Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 117
NM_001159773.2(CANT1):c.441G>A (p.Trp147Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 147
View on ClinVar β†—
Related Genes
NME1Protein interaction99%UPRTProtein interaction97%NME1-NME2Protein interaction96%AK9Protein interaction95%HDDC3Protein interaction95%NT5CProtein interaction94%
Tissue Expression6 tissues
Lung
100%
Brain
91%
Bone Marrow
83%
Liver
79%
Heart
78%
Ovary
72%
Gene Interaction Network
Click a node to explore
CANT1NME1UPRTNME1-NME2AK9HDDC3NT5C
PROTEIN STRUCTURE
Preparing viewer…
PDB1S1D Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.24LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.90 [0.67–1.24]
RankingsWhere CANT1 stands among ~20K protein-coding genes
  • #7,344of 20,598
    Most Researched63
  • #1,339of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #13,064of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedCANT1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pan-cancer analysis predicts CANT1 as a potential prognostic, immunologic biomarker.
PMID: 38369265
Cell Signal Β· 2024
1.00
2
Genetic Association of CANT1 Gene with Scoliosis: An Integrative Study Involving Methylation, Immune Factors, and Metabolites.
PMID: 40775174
J Mol Neurosci Β· 2025
0.90
3
Identification of fusions with potential clinical significance in melanoma.
PMID: 35871080
Mod Pathol Β· 2022
0.80
4
Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
PMID: 31847883
Genome Med Β· 2019
0.70
5
CANT1 serves as a potential prognostic factor for lung adenocarcinoma and promotes cell proliferation and invasion in vitro.
PMID: 35090419
BMC Cancer Β· 2022
0.60