InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CANT1

Summary

InnateDB Protein

IDBP-245649.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CANT1

Protein Name

calcium activated nucleotidase 1

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000376241

InnateDB Gene

IDBG-71027 (CANT1)

Protein Structure

UniProt Annotation

Function

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. Involved in proteoglycan synthesis. {ECO:0000269PubMed:12234496, ECO:0000269PubMed:15248776, ECO:0000269PubMed:22539336}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:12234496}; Single-pass type II membrane protein {ECO:0000269PubMed:12234496}. Golgi apparatus, Golgi stack membrane {ECO:0000269PubMed:12234496}; Single-pass type II membrane protein {ECO:0000269PubMed:12234496}. Note=Processed form: Secreted.

Disease Associations

Desbuquois dysplasia 1 (DBQD1) [MIM:251450]: A chondrodysplasia characterized by severe prenatal and postnatal growth retardation (less than -5 SD), joint laxity, short extremities, progressive scoliosis, round face, midface hypoplasia, prominent bulging eyes. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advance carpal and tarsal bone age. Two forms of Desbuquois dysplasia are distinguished on the basis of the presence or absence of characteristic hand anomalies: an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and phalangeal dislocations. {ECO:0000269PubMed:19853239, ECO:0000269PubMed:20425819, ECO:0000269PubMed:21037275, ECO:0000269PubMed:21412251, ECO:0000269PubMed:21654728, ECO:0000269PubMed:22539336}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Widely expressed. {ECO:0000269PubMed:12234496}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004871	signal transducer activity
GO:0005509	calcium ion binding
GO:0016462	pyrophosphatase activity
GO:0045134	uridine-diphosphatase activity

Biological Process

GO:0007165	signal transduction
GO:0008152	metabolic process
GO:0030166	proteoglycan biosynthetic process
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB signaling

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0032580	Golgi cisterna membrane
GO:0070062	extracellular vesicular exosome