Entity Details

Primary name CANT1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WVQ1
EntryNameCANT1_HUMAN
FullNameSoluble calcium-activated nucleotidase 1
TaxID9606
Evidenceevidence at protein level
Length401
SequenceStatuscomplete
DateCreated2005-05-10
DateModified2021-06-02

Ontological Relatives

GenesCANT1

GO terms

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GOName
GO:0004382 guanosine-diphosphatase activity
GO:0005509 calcium ion binding
GO:0005576 extracellular region
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030166 proteoglycan biosynthetic process
GO:0032580 Golgi cisterna membrane
GO:0035580 specific granule lumen
GO:0042803 protein homodimerization activity
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043262 adenosine-diphosphatase activity
GO:0043312 neutrophil degranulation
GO:0045134 uridine-diphosphatase activity
GO:0070062 extracellular exosome
GO:1904724 tertiary granule lumen
GO:1904813 ficolin-1-rich granule lumen

Subcellular Location

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Subcellular Location
Cell membrane
Endoplasmic reticulum membrane
Golgi apparatus

Domains

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DomainNameCategoryType
IPR009283 ApyraseFamilyFamily
IPR036258 Apyrase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617719 OMIMEpiphyseal 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. The disease is caused by variants affecting the gene represented in this entry.
251450 OMIMDesbuquois 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. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB03486 Phosphomethylphosphonic acid guanosyl esterDrugbanksmall molecule

Interactions

3 interactions

InteractorPartnerSourcesPublicationsLink
CANT1_HUMANCLRN1_HUMANBioGRID, IntAct32296183 details
CANT1_HUMANF209A_HUMANBioGRID, IntAct32296183 details
CANT1_HUMANCANT1_HUMANHPRD12167635 details