CANT1

CANT1 (Calcium Activated Nucleotidase 1) is a Protein Coding gene. Diseases associated with CANT1 include Desbuquois Dysplasia 1 and Epiphyseal Dysplasia, Multiple, 7. Among its related pathways are Pyrimidine metabolism (KEGG) and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and pyrophosphatase activity.

Full Name

calcium activated nucleotidase 1

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 (PubMed:12234496, PubMed:15248776, PubMed:15006348, PubMed:16835225).
Involved in proteoglycan synthesis (PubMed:22539336).

Biological Process

Neutrophil degranulation Source: Reactome
Positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
Proteoglycan biosynthetic process Source: UniProtKB

Cellular Location

Golgi stack membrane; Endoplasmic reticulum membrane; Cell membrane. Processed form: Secreted.

Involvement in disease

Desbuquois dysplasia 1 (DBQD1): 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.
Epiphyseal dysplasia, multiple, 7 (EDM7): A form of multiple epiphyseal dysplasia, a generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. Radiological examination of the skeleton shows delayed, irregular mineralization of the epiphyseal ossification centers and of the centers of the carpal and tarsal bones. Multiple epiphyseal dysplasia is broadly categorized into the more severe Fairbank and the milder Ribbing types. The Fairbank type is characterized by shortness of stature, short and stubby fingers, small epiphyses in several joints, including the knee, ankle, hand, and hip. The Ribbing type is confined predominantly to the hip joints and is characterized by hands that are normal and stature that is normal or near-normal. EDM7 inheritance is autosomal recessive.

Topology

Cytoplasmic: 1-44 aa
Helical: 45-62 aa
Lumenal: 63-401 aa

PTM

N-glycosylated.