Property Summary

NCBI Gene PubMed Count 26
Grant Count 29
R01 Count 23
Funding $5,632,412.6
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 0.003
ependymoma -1.500 0.002
oligodendroglioma -1.300 0.004
group 3 medulloblastoma -1.700 0.004
medulloblastoma, large-cell -1.200 0.007
primitive neuroectodermal tumor -1.400 0.008
pancreatic ductal adenocarcinoma liver m... -2.515 0.008

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.
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