Property Summary

NCBI Gene PubMed Count 26
PubMed Score 287.06
PubTator Score 77.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
astrocytic glioma -1.200 3.0e-03
ependymoma -1.500 2.2e-03
oligodendroglioma -1.300 4.5e-03
group 3 medulloblastoma -1.700 3.6e-03
medulloblastoma, large-cell -1.200 7.2e-03
primitive neuroectodermal tumor -1.400 7.6e-03
pancreatic ductal adenocarcinoma liver m... -2.515 7.7e-03

Gene RIF (8)

PMID Text
26620127 Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5).
26384929 Eight patients from four families with SLC13A5 mutation are described. They have neonatal epilepsy, tooth hypoplasia, and developmental delay.
25628225 SLC13A5 is a novel target gene of PXR and may contribute to drug-induced steatosis and metabolic disorders in humans.
24995870 Screening of 68 additional unrelated individuals with early-onset epileptic encephalopathy for SLC13A5 mutations led to identification of one additional subject with heterozygous mutations of SLC13A5 and a similar clinical presentation as index subjects
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
16973915 Expression and function of NaCT in a cell line and in primary hepatocytes.
12826022 mediates the utilization of extracellular citrate for fat synthesis in human liver cells, and that the process is stimulated by lithium
12445824 This paper describes the cloning and functional characterization of the human Na(+)-coupled citrate transporter (NaCT).

AA Sequence

MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLF      1 - 70
QILDSRQVCVQYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWIS     71 - 140
NTATTAMMVPIVEAILQQMEATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTL    141 - 210
CICYAASIGGTATLTGTGPNVVLLGQMNELFPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFN    211 - 280
FKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGFMPGWLTVAWVEGE    281 - 350
TKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGGFAL    351 - 420
AKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMSRSIGLNPLYI    421 - 490
MLPCTLSASFAFMLPVATPPNAIVFTYGHLKVADMVKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDW    491 - 560
ANVTHIET                                                                  561 - 568
//

Text Mined References (28)

PMID Year Title
26620127 2015 Discovery and characterization of novel inhibitors of the sodium-coupled citrate transporter (NaCT or SLC13A5).
26384929 2015 Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
25628225 2015 SLC13A5 is a novel transcriptional target of the pregnane X receptor and sensitizes drug-induced steatosis in human liver.
24995870 2014 Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24222346 2014 The mammalian INDY homolog is induced by CREB in a rat model of type 2 diabetes.
24114175 2014 Sodium-coupled dicarboxylate and citrate transporters from the SLC13 family.
23506872 SLC13 family of Na?-coupled di- and tri-carboxylate/sulfate transporters.
23177988 2012 Sodium-sulfate/carboxylate cotransporters (SLC13).
22566634 2012 The genetic architecture of economic and political preferences.
21873665 2011 PITX2 is involved in stress response in cultured human trabecular meshwork cells through regulation of SLC13A3.
21264516 2011 The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons.
21156036 2010 DNA methylation in glioblastoma: impact on gene expression and clinical outcome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18826381 2008 Differential gene expression profiles of normal human parotid and submandibular glands.
18194662 2008 Identification of transport pathways for citric acid cycle intermediates in the human colon carcinoma cell line, Caco-2.
17395152 2007 Modulation of succinate transport in Hep G2 cell line by PKC.
16973915 2007 Expression and functional features of NaCT, a sodium-coupled citrate transporter, in human and rat livers and cell lines.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16211368 2006 Molecular properties of the SLC13 family of dicarboxylate and sulfate transporters.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12915942 2004 The SLC13 gene family of sodium sulphate/carboxylate cotransporters.
12826022 2003 Human sodium-coupled citrate transporter, the orthologue of Drosophila Indy, as a novel target for lithium action.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12445824 2002 Human Na+ -coupled citrate transporter: primary structure, genomic organization, and transport function.