SLC6A3 - solute carrier family 6 member 3 Gene
Also Known as DAT; DAT1; PKDYS; PKDYS1
Species: Homo sapiens
About SLC6A3
This gene has 3 transcripts (splice variants), 1 gene allele, 166 orthologues, 19 paralogues and is associated with 4 phenotypes. Low expression observed in reference dataset.
Summary
This gene encodes a Dopamine Transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
SLC6A3 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001044.5 | NP_001035.1 | sodium-dependent dopamine transporter |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables dopamine:sodium symporter activity |
IDA
IDA: Inferred from direct assay
|
1406597 | GOA |
| enables dopamine:sodium symporter activity |
IMP
IMP: Inferred from mutant phenotype
|
19478460 | GOA |
| enables monoamine transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
16024787 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11343649 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in dopamine transport |
IDA
IDA: Inferred from direct assay
|
15505207 | GOA |
| involved in dopamine uptake |
IDA
IDA: Inferred from direct assay
|
21957239 | GOA |
| acts upstream of or within monoamine transport |
IDA
IDA: Inferred from direct assay
|
16024787 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
12958153 | GOA |
| located in cell surface |
IDA
IDA: Inferred from direct assay
|
21399631 | GOA |
| part of flotillin complex |
IDA
IDA: Inferred from direct assay
|
21399631 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
21957239 | GOA |
| located in neuron projection |
IDA
IDA: Inferred from direct assay
|
21957239 | GOA |
| located in neuronal cell body |
IDA
IDA: Inferred from direct assay
|
12958153 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
11343649 | GOA |
SLC6A3 Protein Structure
SNF: Sodium:neurotransmitter symporter family (60 - 582)
- 0
- 100
- 200
- 300
- 400
- 500
- 620 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
sodium-dependent dopamine transporter |
|
|
SLC6A3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SLC6A3 | Q01959 | DRD2 | Homo sapiens | P14416 | 17380124 | |
|
Intra
|
SLC6A3 | Q01959 | RIT2 | Homo sapiens | Q99578 | 21957239 | |
|
Intra
|
SLC6A3 | Q01959 | RIT2 | Homo sapiens | Q99578 | 21957239 | |
|
Intra
|
SLC6A3 | Q01959 | RIT2 | Homo sapiens | Q99578 | 21957239 | |
|
Intra
|
SLC6A3 | Q01959 | SNCA | Homo sapiens | P37840 | 22163275 | |
|
Cross
|
SLC6A3 | Q01959 | Rit2 | Rattus norvegicus | Q5BJQ5 | 21957239 | |
|
Cross
|
SLC6A3 | Q01959 | Rit2 | Rattus norvegicus | Q5BJQ5 | 21957239 | |
|
Cross
|
SLC6A3 | Q01959 | Pick1 | Rattus norvegicus | Q9EP80 | 20018661 | |
|
Cross
|
SLC6A3 | Q01959 | Pick1 | Rattus norvegicus | Q9EP80 | 20018661 |
SLC6A3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81165 | Dopamine Transporter Antibody | WB, ELISA, IHC-P, IHC-F, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
|
| Dementia |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Dissociated Nystagmus |
|
|
| Topographical Agnosia |
|
|
| Parkinsonism |
|
|
| Avoidant Personality Disorder |
|
|
| Periodic Limb Movement Disorder |
|
|
| Cerebrovascular Disease |
|
|
| Mixed Cerebral Palsy |
|
|
| Gilles De La Tourette Syndrome |
|
|
| Psychotic Disorder |
|
|
| Parkinson Disease 4, Autosomal Dominant |
|
|
| Olivopontocerebellar Atrophy |
|
|
| Dystonia |
|
|
| Schizophrenia |
|
|
| Substance Abuse |
|
|
| Atypical Autism |
|
|
| Striatonigral Degeneration |
|
|
| Capgras Syndrome |
|
|
| Drug Psychosis |
|
|
| Normal Pressure Hydrocephalus |
|
|
| Lingual-Facial-Buccal Dyskinesia |
|
|
| Dementia, Lewy Body |
|
|
| Cranio-Facial Dystonia |
|
|
| Huntington Disease |
|
|
| Specific Developmental Disorder |
|
|
| Oculogyric Crisis |
|
|
| Drug Dependence |
|
|
| Delusional Disorder |
|
|
| Cocaine Dependence |
|
|
| Leukodystrophy |
|
|
| Autism |
|
|
| Echolalia |
|
|
| Hydrocephalus |
|
|
| Articulation Disorder |
|
|
| Essential Tremor |
|
|
| Vascular Parkinsonism |
|
|
| Panic Disorder |
|
|
| Wilson Disease |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Stuttering |
|
|
| Withdrawal Disorder |
|
|
| Eating Disorder |
|
|
| Opioid Abuse |
|
|
| Machado-Joseph Disease |
|
|
| Alcohol Use Disorder |
|
|
| Hyperekplexia |
|
|
| Conduct Disorder |
|
|
| Ideomotor Apraxia |
|
|
| Lesch-Nyhan Syndrome |
|
|
| Mutism |
|
|
| Borderline Personality Disorder |
|
|
| Constipation |
|
|
| Speech Disorder |
|
|
| Von Economo'S Disease |
|
|
| Impulse Control Disorder |
|
|
| Communicating Hydrocephalus |
|
|
| Central Nervous System Disease |
|
|
| Kleptomania |
|
|
| Rem Sleep Behavior Disorder |
|
|
| Akinetic Mutism |
|
|
| Obsessive-Compulsive Disorder |
|
|
| Migraine With Or Without Aura 1 |
|
|
| Epilepsy |
|
|
| Cocaine Abuse |
|
|
| Sleep Disorder |
|
|
| Bipolar Disorder |
|
|
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
|
| Tobacco Addiction |
|
|
| Mild Cognitive Impairment |
|
|
| Heroin Dependence |
|
|
| Oppositional Defiant Disorder |
|
|
| Cervical Dystonia |
|
|
| Alcohol Dependence |
|
|
| Restless Legs Syndrome |
|
|
| Postencephalitic Parkinson Disease |
|
|
| Opiate Dependence |
|
|
| Pick Disease Of Brain |
|
|
| Major Depressive Disorder |
|
|
| Dyslexia |
|
|
| Writing Disorder |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Speech And Communication Disorders |
|
|
| Bulimia Nervosa |
|
|
| Focal Dystonia |
|
|
| Spinocerebellar Ataxia 17 |
|
|
| Toxic Encephalopathy |
|
|
| Drug-Induced Mental Disorder |
|
|
| Early-Onset Parkinson'S Disease |
|
|
| Substance Dependence |
|
|
| Pathological Gambling |
|
|
| Migraine With Aura |
|
|
| Social Phobia |
|
|
| Personality Disorder |
|
|
| Attention Deficit-Hyperactivity Disorder |
|
|
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
|
| Narcolepsy |
|
|
| Parkinson Disease, Late-Onset |
|
|
| Choreatic Disease |
|
|
| Dysthymic Disorder |
|
|
| Tremor, Hereditary Essential, 5 |
|
|
| Finger Agnosia |
|
|
| Tic Disorder |
|
|
| Nervous System Disease |
|
|
| Mood Disorder |
|
|
| Disease Of Mental Health |
|
|
| Mental Depression |
|
|
| Multiple System Atrophy 1 |
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
|
| Movement Disease |
|
|
| Supranuclear Palsy, Progressive, 1 |
|
|
| Agraphia |
|
|
| Endogenous Depression |
|
|
| Substance-Induced Psychosis |
|
|
| Antisocial Personality Disorder |
|
|
| Inhibited Male Orgasm |
|
|
| Autism Spectrum Disorder |
|
|
| Phobic Disorder |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Anxiety |
|
|
| Post-Traumatic Stress Disorder |
|
|
| Amphetamine Abuse |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Felis catus | SLC6A3 | VGNC | VGNC:65415 |
| Canis familiaris | SLC6A3 | VGNC | VGNC:46464 |
| Bos taurus | SLC6A3 | VGNC | VGNC:106935 |
| Rattus norvegicus | SLC6A3 | RGD | RGD:3715 |
| Mus musculus | SLC6A3 | MGD | MGI:94862 |
| Macaca mulatta | SLC6A3 | VGNC | VGNC:77619 |
| Others | SLC6A3 | NCBI |