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Validated All-in-One™ qPCR Primer for SLC6A3(NM_001044.4) Search again
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
Summary
The dopamine transporter (DAT1) mediates the active reuptake of dopamine from the synapse and is a principal regulator of dopaminergic neurotransmission. The DAT1 gene has been implicated in human disorders such as parkinsonism, Tourette syndrome, and substance abuse (Vandenbergh et al., 1992 [PubMed 1359373]).[supplied by OMIM].
Gene References into function
- A VNTR polymorphism in this gene is not associated with schizophrenia or with therapeutic response to typical neuroleptics in schizophrenic patients
- DAT variation in humans links robustly with variation in both baseline and/or psychostimulant-induced locomotion.
- Variability in the length or the sequence of the 3'-UTR of the DAT gene may influence levels of DAT protein in the brain.
- results suggest that both the DRD2 promoter region and the DAT gene do not play a significant role in conferring vulnerability to alcoholism (Dopamine Transporter DAT)
- Cocaine-induced increases in cell surface expression of dopamine transporter and associated changes in dopamine clearance represent a novel mechanism that may play a role in its addictive properties.
- variable number of tandem repeat polymorphism affects the expression of the dopamine transporter DAT1
- Conventional protein kinase C isoforms regulate human dopamine transporter activity in Xenopus oocytes.
- findings indicate CFT(2beta-carbomethoxy-3beta-(4-fluorophenyl)tropane)binding requires DAT sequences in the regions encompassing the 3rd and 6-8th transmembrane domain;these regions might contribute to form the 3-dimensional pocket for CFT binding.
- Lack of association between VNTR polymorphism of DAT gene and schizophrenia.
- There is an association between homozygosity for the 10-repeat allele at dopamine transporter gene locus and poor response to MPH.
- VNTR polymorphisms in male opiate addicts
- The dopamine transporter (DAT) gene (SLC6A3) encodes a protein that regulates synaptic levels of dopamine in the brain and is a candidate gene for addictive behaviors
- association of the dopamine transporter (DAT) SLC6A3 3' variable number tandem repeat (VNTR) polymorphism with post traumatic stress disorder
- The 3'UTR of the DAT1 gene affects vulnerability to severe alcohol withdrawal.
- the dopamine transporter (DAT) polymorphism (1215A/G) does not play a major role in the susceptibility to Parkinson's disease
- assembly of DAT monomers plays a critical role in the expression and function of the dopamine transporter
- The VNTR region was highly variable among the primates, intra-species variation also found in the chimpanizees and cynomolgus macaques.
- Measured DAT1 mRNA levels in brain and lymphocytes. Observed that increased levels of DAT1 expression were associated with the number of 10-repeat alleles of the 3'UTR VNTR polymorphism.
- Neonatal 6-hydroxydopamine lesion induced Slc6a3 express in young adult rats is in good agreement with in ADHD patients
- the major phosphorylation sites in DAT are within the distal N terminus, which contains several serines
- results suggest that variants of the dopamine transporter gene may be related to obesity in African-American smokers
- An association analysis for dopamine transporter polymorphism and p300 component in normal young women is negative.
- Review. DAT1 gene has a VNTR polymorphism in the 3'-untranslated region of the mRNA, which changes its gene expression. DAT1 polymorphisms are good candidates for etiological involvement in various psychiatric conditions.
- No significant difference was demonstrated for genotype or allele frequency, when comparing methamphetamine dependent and control cases for dopamine transporter polymorphisms.
- confirmed the DAT1 association with attention deficit disorder with hyperactivity
- The homozygote 10-copy genotype of the VNTR polymorphism within the DAT may confer protection against Parkinson disease for male, but not for female patients
- DAT1 VNTR polymorphism is associated with attention-deficit hyperactivity disease in a Taiwanese sample.
- function of the TM7/8 region with the occurrence of distinct Na+-, substrate-, and perhaps inhibitor-induced conformational changes critical for the proper function of the transporter.
- The 10-repeat DAT1 risk allele is associated with medication response, may help to predict positive clinical outcome in attention deficit hyperactivity disorder
- dopamine transporter forms a tetramer in the plasma membrane
- the dopamine transporter has intracellular residues critical for regulation of transporter conformation and cocaine binding
- dopamine transporter residue aspartate 345 is critical for conformational changes in substrate translocation and cocaine binding
- There may be an interactive effect between the SLC6A3 and early smoking onset on modulating the susceptibility of nicotine dependence
- No differences are found between hallucinators with Parkinson's disease (PD)and non-hallucinators with PD in either the genotypic or allelic distributions.
- Significantly stronger stress-induced cigarette craving is found in individuals carrying the SLC6A3 nine-repeat allelic variant compared to those without the allelic variant.
- These findings are in broad agreement with other studies of the expression of alpha-synuclein mRNA in human brain and suggest that Lewy body formation is unlikely to be the result of overexpression of alpha-synuclein.
- Non-glycosylated DAT at the cell surface displays appreciably reduced catalytic activity and altered inhibitor sensitivity compared with wild type.
- N-terminal phosphorylation of the dopamine transporter is required for amphetamine-induced efflux
- No significant associations were found between DAT polymorphism in genotype & allele frequency & clinical outcome of MAP abusers. The biological relevance of the VNTR polymorphism in the 3'-untranslated region in MAP abusers was not demonstrated.
- dopamine transporter (DAT) function requires alpha-synuclein (review)
- The A9 allele of the DAT gene is involved in vulnerability to alcohol withdrawal complications in women, but these complications differ from those associated with this polymorphism in alcohol-dependent men.
- Terminal region interacts with syntaxin 1a and RACK1.
- Significant reductions in dopamine transporter occur in the caudate and anterior and posterior putamens in subjects with Lewy body dementia compared with subjects with Alzheimer disease and controls.
- long-repeat alleles of DRD4 (ranging from 4 to 6 repeats) and DAT1 (ranging from 11 to 12 repeats), were present more frequently in attention deficit hyperactivity disorder probands than controls
- studies suggest that parkin increases dopamine uptake by enhancing the ubiquitination and degradation of misfolded dopamine transporter (DAT)
- Effect of amphetamine based on DAT1 3'-untranslated region VNTR polymorphism.
- VNTR polymorphism may not have a direct effect on DAT1 expression and the associations observed with psychiatric phenotypes may be mediated via linkage disequilibrium with other functional polymorphisms.
- Age-related cognitive deficits were mediated by reductions in DAT binding, whereas DAT binding added systematic cognitive variance after controlling for age.
- 10-repeat allele of the DAT gene has at most a minor role in the genetic susceptibility to attention deficity hyperactivity disorder.
- The DAT1 gene, a gene expressed predominantly in the basal ganglia, preferentially influences caudate volume in a sample of subjects including subjects with ADHD, their unaffected siblings, and healthy controls.
- Induction of c-Fos by dopamine and norepinephrine requires the presence of hDAT and hNET but the contributions of hDAT and hNET to c-Fos induction is distinguishable on the basis of differing responses to a PKC inhibitor.
- DAT1 is a QTL for continuously distributed ADHD behaviours in the general population and the cognitive endophenotype of response inhibition.
- nonclassical, distinct endocytic signals in the dopamine transporter (DAT) that are necessary and sufficient to drive constitutive and protein kinase C-regulated DAT internalization were identified
- The DAT1 VNTR alleles show haplotype association and linkage disequilibrium in children with attention deficit hyperactivity disorder.
- although DAT (SLC6A3) 5' region SNPs haplotypes significantly alter in vitro transcriptional activity, they are not related to Parkinson's disease risk
- The 3' variable number of tandem repeats and three additional promoter variants in DAT1 do not appear to be associated with attention deficit disorder with hyperactivity, or response to stimulant mediation
- results refute the possibility of the reported DraI endonuclease variation or alleles of variable number of tandem repeats as DAT1 functional variants contributing to the attention-deficit hyperactivity disorder
- In a sample of bipolar patients, two rare missense substitutions (A559V and E602G) have been identified. The E602G mutant is not fully functional. The E602G protein is transcribed and translated but not delivered to the cell surface.
- PKC-induced DAT ubiquitylation may target DAT to lysosomal degradation
- concomitant regulation of alpha-synuclein and dopamine transporter binding and function in human striatal synaptic terminals isolated from cocaine abusers
- DAT availability increased by about 40% in a study of brain bioavailability in obsessive compulsisve disorder.
- Results suggest that the 10-repeat DAT1 allele may mediate neuropsychological impairment in ADHD.
- This study found evidence of increased DAT variation in African-American subjects as well as in predominantely hyperactive-impulsive probands. And A559V was identified in two Caucasian male siblings with ADHD and 10-repeat 3'VNTR allele.
- Significant association of the severe combined ADHD subtype with over-transmission of the DAT 440 base pair allele and under-transmission of the 480 base pair allele using population-based ADHD subtypes based on latent class analysis
- No association between DAT1-10R homozygosity and response to methylphenidate for treatment of ADHD in Dutch sibpairs
- results indicate a previously unappreciated role of microtubules in the modulation of DAT trafficking, and provide insight into a novel mechanism by which alpha-synuclein regulates DAT activity, by tethering the transporter to the microtubular network
- In this sample the DAT1 VNTR did not show association with ADHD.
- This study reports the identification of 20 additional SNPs in DAT1 for a total of 63 variants. It also reports evidence for association to bipolar disorder in a second independent sample of families.
- study identified the DAT1 VNTR as a functional polymorphism, affecting ligand binding and DAT density
- DAT1 10 allele homozygosity was significantly higher in siblings with attention-deficit/hyperactivity disorder.
- VNTR polymorphism of the DAT gene is not associated with attention deficit hyperactivity disorder in Chinese children.
- Our data suggest a mechanism of 6-OHDA-induced dopaminergic toxicity involving an interaction of mutant alpha-synucleins with the DAT molecule and subsequent acceleration of cellular energy depletion that might be relevant for the pathogenesis of PD.
- Data support the role of DAT1 in ADHD susceptibility among Korea population.
- DAT1 gene variation may play a role in cocaine dependence etiology
- These findings suggest that the variants of 5-HTTLPR interacted with the DAT1 gene polymorphism to influence the HA and RD temperament subscales of TCI.
- Subjects homozygous for the COMT Met allele and the dopamine transporter 10-repeat allele have the most focused response, whereas the COMT Val and the DAT 9-repeat alleles have the least.
- Measurement of striatal dopamine transporter in Parkinson's disease associated with the LRRK2 mutation.
- dopamine transporter VNTR polymorphism influenced rapid response to antidepressant therapy.
- Cis-acting variation in 5' regions of the human DAT/SLC6A3 locus contributes to individual differences in levels of DAT expression in vivo.
- The DAT1 40bp VNTR 9/10 polymorphism pairing appears to be reliably associated with greater symptoms of attention deficit hyperactivity disorder and externalizing behavior from childhood to adulthood.
- This study examined either allele of the DAT1 core promoter -67 functional polymorphism is associated with ADHD in a case/control study.
- our present findings support the genetic involvement of distinct hSLC6A3 genotypes in schizophrenia
- Analysis used within family tests of association in a sample of 776 DSM-IV ADHD combined type cases and found nominal significance with SNPs in DAT1.
- An absence of association with DAT1 polymorphism in a sample of adults with ADHD.
- Study reveals that allelic variants in SLC6A3, which affect gene expression, are associated with Parkinson's disease in this population and may interact with occupational pesticide exposure to increase PD risk.
- There is an association between DAT1 and DRD4 and increased response variability in ADHD.
- no evidence for a major role of the 5'-UTR of the dopamine transporter gene in bipolar affective disorder
- The present study suggests that dopamine candidate genes are associated with increased vulnerability to ADHD in the Han Chinese population.
- These results suggest a role for the promoter region of DAT1 gene in attention deficit hyperactivity disorder susceptibility in this Brazilian sample.
- These data provide the first evidence that the ubiquitin moieties conjugated to DAT may serve as a molecular interface of the transporter interaction with the endocytic machinery.
- A 40-bp variable number tandem repeat of DAT1 is associated with increase risk of violence or serious delinquency in male adolescents and young adults (ages 12 to 23).
- study has identified a significant association between the presence of Tourette syndrome and a DAT polymorphism
- Challenge with low-dose apomorphine may therefore be used as an indirect tool to measure the extent of nigrostriatal neurodegeneration in early PD via the dopamine transporter.
- Data suggest that DAT1 gene polymorphism may not associated with personality traits in a Korean population.
- The inconsistent association between DAT1 and child behavior problems may reflect joint influence of the 10-repeat and 9-repeat alleles.
- The present results prompt discussion of models explaining how factors regulating DAT expression at the plasma membrane can regulate DAT function and pharmacology.
- Cocaine binding near TM6 may overlap the dopamine translocation pathway and function to inhibit TM6 structural rearrangements necessary for transport
- These experiments demonstrate that D(2) receptor (short splice variant, D(2S)R) stimulation increases DAT cell surface expression. Furthermore, they show that the increase in DAT function is ERK1/2-dependent but PI3K-independent.
- The results confirm and strengthen our preliminary observation that homozygosity for the T-allele is a predisposing factor in male patients, but not in females.
- No evidence of common repeat alleles in intron 8 or 3'utr and adult attention deficit and hypersensitivity disorder.
- A haplotype in the 3' untranslated region of DAT1 modifies the effect of lifetime traumatic experience on the severity of nicotine dependence.
- Data show that valproate treatment significantly increases dopamine transporter gene expression in a Sp transcription factor-dependent manner.
- family-based association test showed preferential transmission (P = 0.019) of the 9R allele from parents to ADHD probands
- the 10-repeat allele of a VNTR polymorphism in the 3'-UTR the DAT1 gene has a small but significant role in the genetic susceptibility of attention deficit hyperactivity disorder - meta-analysis
- allele frequencies did not differ between cases and controls, but DAT1 genotype accounted for variations of tic severity within the Tourette syndrome group
- results support the hypothesis that the DAT1 3'UTR VNTR polymorphism is associated with smoking cessation: meta-analysis
- DAT Dopamine Transporter polymorphisms ,an interaction between dopamine receptor D4 protein and DAT genotypes, on inhibitory control
- findings offer no evidence for an association of the DAT(Int8) with migraine with and without aura and therefore do not implicate the dopamine transporter gene as a modifier of migraine risk
- Healthy children who were homozygous for alleles that influence the expression of dopamine transporters in the brain displayed inattention for left-sided stimuli, whereas heterozygotes did not.
- VNTR polymorphisms of the human dopamine transporter gene and expression is associated with alzheimer disease
- No association between the dopamine transporter gene 1 10-repeat allele and attention-deficit hyperactivity disorder in the Iranian population
- 3' UTR VNTR of the DAT dopamine transporter is associated with childhood attention deficit hyperactivity disorder
- there were no significant effects of the DRD1 or DAT1 polymorphisms on clinical outcome or cortical development.
- our results support a role of DAT variable number of tandem repeat in both brain activation and cognition
- functional genetic variation in the dopamine transporter does not act as a significant risk factor for migraine
- The present study further explores the structural requirements for the cytotoxic effects of beta-carbolines and searches for additional compounds involved in the pathogenesis of Parkinson's disease.
- biophysical analysis of how dopamine transporter interacts with dopamine
- Association of the DAT with lipid microdomains in the plasma membrane and/or the cytoskeleton serves to regulate both the lateral mobility of the transporter and its transport capacity.
- alpha-Synuclein/dopamine transporter (DAT) protein complex formation accelerates DAT-mediated cellular dopamine (DA) uptake.
- a role of the SLC6A3 genotype in determining the response to methylphenidate in the treatment of adults with ADHD.
- Comparing with controls, AOA1 patients showed a slight reduction of the average striatal DAT density, which was bilateral and uniform in caudate and putamen.
- Variation in SLC6A3 is implicated as risk factor for schizophrenia.
- Spatial attentional bias correlated with ADHD symptom levels and varied according to DAT1 genotype.
- conclude that it is unlikely that there exist two tropane binding sites in close proximity to one another on either the DAT or SERT.
- significant role of the 3' part of the DAT1 gene in withdrawal seizures of alcohol-dependent patients
- There is regulation of oligomerization of an the dopamine transporter,(DAT), by substrates that act at DAT. In addition, there is an important linkage between oligomerization of DAT and endocytic or other modulatory mechanisms impacting surface DAT.
- results suggest that the intron 8 VNTR of the SLC6A3 investigated in this study is not related to the susceptibility for OCD in a Brazilian sample.
- Association of SLC6A3 gene and ADHD symptoms in a Canadian population-based sample of same-age twins is reported.
- DAT1 genotype affected activation in the striatum and cerebellar vermis. The genotype interacted with familial risk of ADHD in the striatum but not the vermis.
- Using a gene-by-environment (G x E) design, we tested whether three polymorphisms in the dopamine transporter gene (DAT1, also referred to as SLC6A3, located at 5p15.33) interacted with maternal parenting to predict first-onset episodes of depression.
- Results did not support an association between this polymorphism of the DAT1 gene and conduct disorder in adolescents.
- children homozygous for the 10-repeat allele of the common dopamine transporter (DAT1) polymorphism exposed to maternal prenatal smoke exhibited significantly higher hyperactivity-impulsivity than children without these environmental or genetic risks
- Lack of association of SLC6A3 in a French ADHD sample is reported.
- These results directly establish the proximity of transmembrane domains 1 and 6 in DAT and suggest that the mechanism of transport inhibition by cocaine involves close interactions with multiple regions of the substrate permeation pathway.
- DAT1 gene was unrelated to visual search or vigilance performance
- evidence supporting a role for SLC6A3 in the etiology of pediatric bipolar disorder; association with SNPs in the 3' region of the gene
- DAT 9-repeat carrier alleles modulated activity in the hippocampus in the exact opposite direction of DAT 10/10-repeat alleles based on COMT Val(158)Met genotype during different memory conditions.
- The expression of DAT can be inhibited effectively by the antisense ODN, and the response of the rats to the MPTP was reduced upon DAT inhibition.
- Some ADHD polymorphisms (in genes DAT1, DRD2, DRD3, DBH, 5-HTT) in case-control study.
- analysis of how an intracellular interaction network regulates conformational transitions in the dopamine transporter
- MKP3 can act to enhance DAT function and identifies MKP3 as a phosphatase involved in regulating dynamin-dependent endocy
- Among current smokers, intention to quit was significantly lower in adolescents homozygous for the 10-repeat allele of the common dopamine transporter 3' untranslated region polymorphism.
- No evidence of transmission disequilibrium was detected for alleles of the DAT1 polymorphisms in early onset of obsessive-compulsive disorder.
- The above suggests that cleavage of DAT by calpain may significantly modify dopamine homeostasis under pathological or physiological conditions.
- Data show that promoter specific methylation of the dopamine transporter gene is altered in alcohol dependence and associated with craving.
- Genetic heterogeneity in ADHD: SLC6A3 gene only affects probands without conduct disorder.
- SLC6A3 genotype may modulate components of executive function performance in children with ADHD.
- Pharmacogenetics of methylphenidate response in ADHD: association with SLC6A3 gene is reported.
- When using midbrain [123I] nor-beta-CIT binding as a marker of SERT binding, no differences are detectable between patients with DD and MD. However, low striatum [123I] nor-beta-CIT binding is associated with a longer illness duration in dysthymia.
- Association of ADHD with genetic variants in the 5'-region of SLC6A3: evidence for allelic heterogeneity.
- We explored associations of gene variants in the dopamine, opioid, and serotonin pathways with smoking reward ('liking') and reinforcement (latency to first puff and total puffs) as a function of negative mood.
- The researchers found evidence of some selective pressure in the polymorphism frequencies of the dopamine transporter gene hypervariable region in a sample of Ivory Coast and Italian populations
- An association was found between neuropsychological measures and SLC6A3 in ADHD only in adolescents.
- 10R allele of DAT1 gene associated with self-reported delinquent peer affiliation for male adolescents from high-risk environments.
- A common haplotype at SLC6A3 5' region is associated with ADHD.
- Association of SLC6A3 gene 9-6 haplotype with adult ADHD is reported.
- Data show that in two cases of metachromatic leukodystrophy, polymorphisms the serotonin and dopamine transporter genes are related to the symptomatology of schizophrenia and/or depression.
- DAT1 3'-UTR variable tandem repeat could play a role in susceptibility to irritability and aberrant motor behavior in Alzheimer's disease
- A combination of polymorphisms in both the 3' and the 5' ends of the DAT gene is associated with in vivo striatal DAT expression.
- Threonine-62 in the juxtamembrane N-terminal domain of the human dopamine transporter (DAT) plays a critical role in transporter function, as examined in a structural context using dynamic simulations of a three-dimensional molecular model of DAT.
- Our results support a role of genetic variation at the dopamine transporter gene, SLC6A3, as a modifier of body mass index
- Residues 60-65 proximal to the first transmembrane domain of dopamine transporter (DAT) are critical for retention of DAT at the plasma membrane and/or prevention of rapid constitutive endocytosis of DAT.
