• Gene id: 6531

Gene Summary

• Gene Symbol: SLC6A3   Gene   UCSC   Ensembl
• Aliases: DAT, DAT1, PKDYS, PKDYS1
• Gene name: solute carrier family 6 member 3
• Alternate names: sodium-dependent dopamine transporter, DA transporter, dopamine transporter 1, solute carrier family 6 (neurotransmitter transporter), member 3, solute carrier family 6 (neurotransmitter transporter, dopamine), member 3,
• Gene location: 5p15.33 (1445439: 1392793)     Exons: 15     NC_000005.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: Q01959  
  • Name: Sodium dependent dopamine transporter (DA transporter) (DAT) (Solute carrier family 6 member 3)
  • Length: 620  
  • Mass: 68495
  • Tissue specificity: Highly expressed in substantia nigra. {ECO
• Sequence:

  MSKSKCSVGLMSSVVAPAKEPNAVGPKEVELILVKEQNGVQLTSSTLTNPRQSPVEAQDRETWGKKIDFLLSVIG
  FAVDLANVWRFPYLCYKNGGGAFLVPYLLFMVIAGMPLFYMELALGQFNREGAAGVWKICPILKGVGFTVILISL
  YVGFFYNVIIAWALHYLFSSFTTELPWIHCNNSWNSPNCSDAHPGDSSGDSSGLNDTFGTTPAAEYFERGVLHLH
  QSHGIDDLGPPRWQLTACLVLVIVLLYFSLWKGVKTSGKVVWITATMPYVVLTALLLRGVTLPGAIDGIRAYLSV
  DFYRLCEASVWIDAATQVCFSLGVGFGVLIAFSSYNKFTNNCYRDAIVTTSINSLTSFSSGFVVFSFLGYMAQKH
  SVPIGDVAKDGPGLIFIIYPEAIATLPLSSAWAVVFFIMLLTLGIDSAMGGMESVITGLIDEFQLLHRHRELFTL
  FIVLATFLLSLFCVTNGGIYVFTLLDHFAAGTSILFGVLIEAIGVAWFYGVGQFSDDIQQMTGQRPSLYWRLCWK
  LVSPCFLLFVVVVSIVTFRPPHYGAYIFPDWANALGWVIATSSMAMVPIYAAYKFCSLPGSFREKLAYAIAPEKD
  RELVDRGEVRQFTLRHWLKV

• Structural information:
  • Interpro: IPR000175  IPR002436  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • DIP: 41827
  • STRING: ENSP00000270349
• Other Databases: GeneCards:  SLC6A3  Malacards:  SLC6A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005326	neurotransmitter transmembrane transporter activity	ISS	molecular function
GO:0008504	monoamine transmembrane transporter activity	ISS	molecular function
GO:0006836	neurotransmitter transport	ISS	biological process
GO:0090494	dopamine uptake	ISS	biological process
GO:0043005	neuron projection	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090494	dopamine uptake	IDA	biological process
GO:0051583	dopamine uptake involved in synaptic transmission	IBA	biological process
GO:0043005	neuron projection	IBA	cellular component
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0015874	norepinephrine transport	IBA	biological process
GO:0005330	dopamine:sodium symporter activity	IBA	molecular function
GO:0032809	neuronal cell body membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0005334	norepinephrine:sodium symporter activity	IBA	molecular function
GO:0015872	dopamine transport	IDA	biological process
GO:0005330	dopamine:sodium symporter activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005330	dopamine:sodium symporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0008504	monoamine transmembrane transporter activity	IDA	molecular function
GO:0015844	monoamine transport	IDA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0008504	monoamine transmembrane transporter activity	TAS	molecular function
GO:0042136	neurotransmitter biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060134	prepulse inhibition	IEA	biological process
GO:0047485	protein N-terminus binding	IEA	molecular function
GO:0042416	dopamine biosynthetic process	IEA	biological process
GO:0042220	response to cocaine	IEA	biological process
GO:0035240	dopamine binding	IEA	molecular function
GO:0021984	adenohypophysis development	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0007608	sensory perception of smell	IEA	biological process
GO:0001504	neurotransmitter uptake	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0051721	protein phosphatase 2A binding	IEA	molecular function
GO:0051591	response to cAMP	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042493	response to drug	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0010039	response to iron ion	IEA	biological process
GO:0008144	drug binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0002020	protease binding	IEA	molecular function
GO:0042420	dopamine catabolic process	IEA	biological process
GO:0042053	regulation of dopamine metabolic process	IEA	biological process
GO:0040018	positive regulation of multicellular organism growth	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0015872	dopamine transport	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0007595	lactation	IEA	biological process
GO:0005330	dopamine:sodium symporter activity	IEA	molecular function
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0098691	dopaminergic synapse	IEA	cellular component
GO:0045471	response to ethanol	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0015872	dopamine transport	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005330	dopamine:sodium symporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0051620	norepinephrine uptake	IEA	biological process
GO:0030424	axon	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0016600	flotillin complex	IDA	cellular component
GO:0043025	neuronal cell body	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990384	hyaloid vascular plexus regression	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa05012	Parkinson disease
hsa05034	Alcoholism
hsa04728	Dopaminergic synapse
hsa04721	Synaptic vesicle cycle
hsa05031	Amphetamine addiction
hsa05030	Cocaine addiction

Diseases

Associated diseases	References
Attention deficit hyperactivity disorder	PMID:12915833
obesity	PMID:12490667
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq