CANT1 Gene Summary [Human]
This protein encoded by this gene belongs to the apyrase family. It functions as a calcium-dependent nucleotidase with a preference for UDP. Mutations in this gene are associated with Desbuquois dysplasia with hand anomalies. Alternatively spliced transcript variants have been noted for this gene.[provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | CANT1 |
| Official Name | calcium activated nucleotidase 1 [Source:HGNC Symbol;Acc:HGNC:19721] |
| Ensembl ID | ENSG00000171302 |
| Bio databases IDs | |
| Aliases | calcium activated nucleotidase 1, Soluble Ca-Activated Nucleotidase, isozyme 1, apyrase 1 homolog (C. lectularius) |
| Synonyms | 5830420C20Rik, APY1H, calcium activated nucleotidase 1, D11Bwg0554e, DBQD, DBQD1, EDM7, Entpd8, LOC102724315, SCAN-1, SHAPY, srapy |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CANT1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- guanosine-diphosphatase
- nucleoside-diphosphatase
- apyrase
- uridine diphosphatase
- calcium ion binding
- protein homodimerization
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- Desbuquois syndrome type 1
- growth failure
- hereditary disorder
- multiple epiphyseal dysplasia 7
- kyphosis
- focal cortical dysplasia type I
- multiple epiphyseal dysplasia
- Kim variant desbuquois dysplasia
- chondrodysplasia
role in cell
- apoptosis
- aggregation
- replication in
- abnormal morphology
- function
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- secretory granule lumen
- ficolin-1-rich granule lumen
- organelle lumens
- cellular membrane
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CANT1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- proteoglycan biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- extracellular vesicular exosome
- specific granule lumen
- Golgi cisterna membrane
- membrane
- Golgi apparatus
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- protein homodimerization activity
- adenosine-diphosphatase activity
- uridine-diphosphatase activity
- calcium ion binding
- guanosine-diphosphatase activity