Entity Details

Primary name SLC6A3
Entity type gene
Source Source Link

Details

PrimaryID6531
RefseqGeneNG_015885
SymbolSLC6A3
Namesolute carrier family 6 member 3
Chromosome5
Location5p15.33
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-11-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSC6A3_HUMAN

GO terms

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GOName
GO:0002020 protease binding
GO:0005102 signaling receptor binding
GO:0005326 neurotransmitter transmembrane transporter activity
GO:0005330 dopamine:sodium symporter activity
GO:0005334 norepinephrine:sodium symporter activity
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0006836 neurotransmitter transport
GO:0007568 aging
GO:0007595 lactation
GO:0007608 sensory perception of smell
GO:0007626 locomotory behavior
GO:0008504 monoamine transmembrane transporter activity
GO:0009986 cell surface
GO:0010039 response to iron ion
GO:0015844 monoamine transport
GO:0015872 dopamine transport
GO:0015874 norepinephrine transport
GO:0016021 integral component of membrane
GO:0016600 flotillin complex
GO:0021984 adenohypophysis development
GO:0030424 axon
GO:0032809 neuronal cell body membrane
GO:0035094 response to nicotine
GO:0035240 dopamine binding
GO:0035725 sodium ion transmembrane transport
GO:0040018 positive regulation of multicellular organism growth
GO:0042053 regulation of dopamine metabolic process
GO:0042136 neurotransmitter biosynthetic process
GO:0042220 response to cocaine
GO:0042416 dopamine biosynthetic process
GO:0042420 dopamine catabolic process
GO:0042493 response to drug
GO:0042734 presynaptic membrane
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0044877 protein-containing complex binding
GO:0045121 membrane raft
GO:0045471 response to ethanol
GO:0046872 metal ion binding
GO:0047485 protein N-terminus binding
GO:0051583 dopamine uptake involved in synaptic transmission
GO:0051591 response to cAMP
GO:0051721 protein phosphatase 2A binding
GO:0060134 prepulse inhibition
GO:0090494 dopamine uptake
GO:0098691 dopaminergic synapse
GO:0099055 integral component of postsynaptic membrane
GO:0099056 integral component of presynaptic membrane
GO:1990384 hyaloid vascular plexus regression

Diseases

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Disease IDSourceNameDescription
613135 OMIMParkinsonism-dystonia infantile (PKDYS)A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradykinesia and pyramidal tract signs. The disease is caused by variants affecting the gene represented in this entry.