Property Summary

NCBI Gene PubMed Count 27
Grant Count 21
R01 Count 12
Funding $16,590,935.83
PubMed Score 25.34
PubTator Score 123.60

Knowledge Summary

Patent

No data available

Expression

 GWAS Trait (1)

Gene RIF (14)

PMID Text
25486376 a novel mutation of CANT1, c.467C>T (p.Ser156Phe) in 3 Indian patients with Desbuquois dysplasia, Kim type from 2 families
22539336 Data studied proteoglycan synthesis in CANT1 mutated patient fibroblasts, and found significant reduced GAG synthesis in presence of beta-D-xyloside, suggesting that CANT1 plays a role in proteoglycan metabolism.
21654728 Novel mutations in the CANT1 gene are reported in three cases of Desbuquois dysplasia type I and fetal hydrops.
21435463 CANT1 is commonly overexpressed in the vast majority of primary prostate carcinomas and in the precursor lesion PIN and may represent a novel prognostic biomarker
21412251 estimated the age of the founder mutation as approximately 1420 years
21037275 The clinical-radiographic spectrum produced by CANT1 mutations must be extended to include Desbuquois dysplasia type 2 and Kim variant.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19853239 Mutations in CANT1 in Desbuquois dysplasia are identified.
18854154 Knockdown of calcium activated nucleotidase 1 (CANT1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18451133 The two novel ETV4 fusion partners possess as predominant common characteristics androgen-induction and prostate-specific expression.
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AA Sequence

MPVQLSEHPEWNESMHSLRISVGGLPVLASMTKAADPRFRPRWKVILTFFVGAAILWLLCSHRPAPGRPP      1 - 70
THNAHNWRLGQAPANWYNDTYPLSPPQRTPAGIRYRIAVIADLDTESRAQEENTWFSYLKKGYLTLSDSG     71 - 140
DKVAVEWDKDHGVLESHLAEKGRGMELSDLIVFNGKLYSVDDRTGVVYQIEGSKAVPWVILSDGDGTVEK    141 - 210
GFKAEWLAVKDERLYVGGLGKEWTTTTGDVVNENPEWVKVVGYKGSVDHENWVSNYNALRAAAGIQPPGY    211 - 280
LIHESACWSDTLQRWFFLPRRASQERYSEKDDERKGANLLLSASPDFGDIAVSHVGAVVPTHGFSSFKFI    281 - 350
PNTDDQIIVALKSEEDSGRVASYIMAFTLDGRFLLPETKIGSVKYEGIEFI                       351 - 401
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Text Mined References (28)

PMID Year Title
25486376 2015 A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22539336 2012 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
21654728 2011 Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.
21435463 2011 The androgen-regulated Calcium-Activated Nucleotidase 1 (CANT1) is commonly overexpressed in prostate cancer and is tumor-biologically relevant in vitro.
21412251 2011 A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
21037275 2011 CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
20425819 2010 Mutation of CANT1 causes Desbuquois dysplasia.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
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