CANT1

Chr 17q25.3

calcium activated nucleotidase 1

Aliases:: SHAPY, SCAN-1
MANE:: ENST00000392446.10

OMIM: 613165 ↗NCBI: 124583 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

CANT1 · Q8WVQ1

v62025-08-01

Predicted Aligned Error matrix for CANT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

401 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)5%
Low(50–70)7%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Clefting
Intellectual disability
Osteogenesis imperfecta

Disease associations (Open Targets)

Desbuquois syndrome
0.78
Desbuquois dysplasia 1
0.76
multiple epiphyseal dysplasia
0.71
hereditary disease
0.47
Desbuquois dysplasia
0.37
hydrops fetalis
0.37
prostate adenocarcinoma
0.28
Abnormality of the skeletal system
0.27
Joint dislocation
0.27
Short stature
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Soluble calcium-activated nucleotidase 1

Calcium-dependent nucleotidase with a preference for UDP. The order of activity with different substrates is UDP > GDP > UTP > GTP. Has very low activity towards ADP and even lower activity towards ATP. Does not hydrolyze AMP and GMP (PubMed:12234496, PubMed:15006348, PubMed:15248776, PubMed:16835225). Involved in proteoglycan synthesis (PubMed:22539336)