InnateDB Protein
|
IDBP-753083.3
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
SLC6A2
|
Protein Name
|
|
Synonyms
|
NAT1; NET; NET1; SLC6A5;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000457473
|
InnateDB Gene
|
IDBG-31382 (SLC6A2)
|
Protein Structure
|
|
Function |
Amine transporter. Terminates the action of noradrenaline by its high affinity sodium-dependent reuptake into presynaptic terminals.
|
Subcellular Localization |
Membrane; Multi-pass membrane protein.
|
Disease Associations |
Orthostatic intolerance (OI) [MIM:604715]: Syndrome characterized by lightheadedness, fatigue, altered mentation and syncope. It is associated with postural tachycardia. Plasma norepinephrine concentration is abnormally high. {ECO:0000269PubMed:10684912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
5
[view]
|
Protein-Protein |
4
[view]
|
Protein-DNA |
1
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
Accession |
GO Term |
GO:0005328
|
neurotransmitter:sodium symporter activity
|
GO:0005334
|
norepinephrine:sodium symporter activity
|
GO:0005515
|
protein binding
|
GO:0008504
|
monoamine transmembrane transporter activity
|
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000175
Sodium:neurotransmitter symporter
IPR002435
Sodium:neurotransmitter symporter, noradrenaline
|
PFAM |
PF00209
|
PRINTS |
PR00176
PR01201
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P23975
|
PhosphoSite |
PhosphoSite-P23975
|
TrEMBL |
Q9UQ04
|
UniProt Splice Variant |
|
Entrez Gene |
6530
|
UniGene |
Hs.78036
|
RefSeq |
NP_001165972
|
HUGO |
HGNC:11048
|
OMIM |
163970
|
CCDS |
CCDS10754
|
HPRD |
01232
|
IMGT |
|
EMBL |
AB022846
AC136621
AK301811
AK312793
CH471092
M65105
X91117
X91118
X91119
X91120
X91121
X91122
X91123
X91124
X91125
X91126
X91127
|
GenPept |
AAA59943
BAA82110
BAG35654
BAG63260
CAA62566
CAC39181
EAW82831
EAW82833
EAW82834
EAW82835
|
|
|