Property Summary

NCBI Gene PubMed Count 11
Grant Count 14
R01 Count 14
Funding $1,966,803.75
PubMed Score 0.00
PubTator Score 18.60

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.508 0.000
pancreatic ductal adenocarcinoma liver m... -1.298 0.029
ovarian cancer 1.300 0.000

Gene RIF (4)

PMID Text
23111317 Identification of novel missense mutations in exon 12 of the RFT1 gene in adult siblings with congenital disorder of glycosylation (CDG) syndrome caused by RFT1 deficiency.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19856127 Six patients with RFT1-CDG show sensorineural deafness as part of a severe neurological syndrome
18313027 RFT1 deficiency in both yeast and human cells leads to the accumulation of incomplete DolPP-GlcNAc(2)Man(5) and to a profound glycosylation disorder in humans.

AA Sequence

MGSQEVLGHAARLASSGLLLQVLFRLITFVLNAFILRFLSKEIVGVVNVRLTLLYSTTLFLAREAFRRAC      1 - 70
LSGGTQRDWSQTLNLLWLTVPLGVFWSLFLGWIWLQLLEVPDPNVVPHYATGVVLFGLSAVVELLGEPFW     71 - 140
VLAQAHMFVKLKVIAESLSVILKSVLTAFLVLWLPHWGLYIFSLAQLFYTTVLVLCYVIYFTKLLGSPES    141 - 210
TKLQTLPVSRITDLLPNITRNGAFINWKEAKLTWSFFKQSFLKQILTEGERYVMTFLNVLNFGDQGVYDI    211 - 280
VNNLGSLVARLIFQPIEESFYIFFAKVLERGKDATLQKQEDVAVAAAVLESLLKLALLAGLTITVFGFAY    281 - 350
SQLALDIYGGTMLSSGSGPVLLRSYCLYVLLLAINGVTECFTFAAMSKEEVDRYNFVMLALSSSFLVLSY    351 - 420
LLTRWCGSVGFILANCFNMGIRITQSLCFIHRYYRRSPHRPLAGLHLSPVLLGTFALSGGVTAVSEVFLC    421 - 490
CEQGWPARLAHIAVGAFCLGATLGTAFLTETKLIHFLRTQLGVPRRTDKMT                       491 - 541
//

Text Mined References (14)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
23974872 2013 Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23111317 2012 RFT1-CDG in adult siblings with novel mutations.
22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19856127 2009 RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.
19701946 2009 RFT1 deficiency in three novel CDG patients.
18313027 2008 Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
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