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The vesicular monoamine transporter acts to accumulate cytosolic monoamines into vesicles, using the proton gradient maintained across the vesicular membrane. Its proper function is essential to the correct activity of the monoaminergic systems that have been implicated in several human neuropsychiatric disorders. The transporter is a site of action of important drugs, including reserpine and tetrabenazine (Peter et al., 1993 [PubMed 7905859]). See also SLC18A2 (MIM 193001).[supplied by OMIM, Mar 2008]
SLC18A1 (Solute Carrier Family 18 Member A1) is a Protein Coding gene. Diseases associated with SLC18A1 include Barbiturate Abuse and Bipolar I Disorder. Among its related pathways are Amphetamine addiction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include monoamine transmembrane transporter activity and drug transmembrane transporter activity. An important paralog of this gene is SLC18A2.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH08J020182 | Promoter/Enhancer | 0.8 | EPDnew ENCODE | 250.7 | +0.1 | 103 | 0.9 | FEZF1 ZIC2 ZNF843 SP7 GATA2 CHD2 POLR2A | SLC18A1 piR-32130-044 LPL | |
GH08J020133 | Enhancer | 0.7 | Ensembl ENCODE | 10.9 | +48.8 | 48812 | 1.6 | CTCF REST SMC3 RAD21 ZNF362 KLF16 RUNX3 ZNF654 | SLC18A1 ENSG00000253775 INTS10 CSGALNACT1 HSALNG0063791 lnc-LZTS1-3 LPL | |
GH08J019960 | Enhancer | 0.6 | Ensembl ENCODE dbSUPER | 10.6 | +220.6 | 220605 | 2.8 | SPI1 | HSALNG0063781 ENSG00000253775 SLC18A1 HSALNG0063784 LPL | |
GH08J019965 | Enhancer | 0.5 | Ensembl ENCODE dbSUPER | 10.6 | +217.9 | 217905 | 1.4 | SLC18A1 LPL HSALNG0063781 HSALNG0063784 | ||
GH08J020137 | Enhancer | 0.5 | Ensembl | 10.9 | +45.7 | 45705 | 1 | MAFF ZNF316 MAFG MAFK EMSY | SLC18A1 ENSG00000253775 INTS10 CSGALNACT1 HSALNG0063791 lnc-LZTS1-3 LPL |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005335 | serotonin:sodium symporter activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | -- |
GO:0008504 | monoamine transmembrane transporter activity | TAS | 8643547 |
GO:0022857 | transmembrane transporter activity | IBA | 21873635 |
GO:0042910 | xenobiotic transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006836 | neurotransmitter transport | IEA | -- |
GO:0015842 | aminergic neurotransmitter loading into synaptic vesicle | IBA | 21873635 |
GO:0015844 | monoamine transport | TAS | 8643547 |
GO:0042908 | xenobiotic transport | IEA | -- |
GO:0051610 | serotonin uptake | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Reserpine | Approved, Investigational | Pharma | Inhibitor, Inhibition, Target, blocker | Inhibitor of vesicular monoamine transport | 9 | |
Methamphetamine | Approved, Illicit | Pharma | Target, inhibitor, antagonist | 258 | ||
Tetrabenazine | Approved, Investigational | Pharma | Inhibitor, Inhibition, blocker | Potent inhibitor of vesicular monoamine transport | 20 | |
Rose bengal | Approved, Investigational | Pharma | VGlut and vesicular monoamine transporter (VMAT) inhibitor, Potent VGlut and VMAT inhibitor; cell permeable | 0 | ||
Norepinephrine | Approved | Pharma | Target, binder | 1003 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
Reserpine | Inhibitor of vesicular monoamine transport | 50-55-5 |
Rose Bengal | Potent VGlut and VMAT inhibitor; cell permeable | 632-69-9 |
Tetrabenazine | Potent inhibitor of vesicular monoamine transport | 58-46-8 |
Compound | Action | Cas Number |
---|---|---|
Rose Bengal | VGlut and vesicular monoamine transporter (VMAT) inhibitor | 632-69-9 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC18A1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC18A1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC18A1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc18a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc18a1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | SLC18A1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC18A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC18A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC18A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100487393 30 |
|
||
Str.2504 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100331899 30 |
|
||
SLC18A1 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG6119 32 |
|
|
|
Vmat 31 |
|
OneToMany | |||
CG10251 32 |
|
|
|||
Worm (Caenorhabditis elegans) |
Secernentea | cat-1 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1390938 | - |
p.Ile136Thr |
|||
rs17092104 | - |
p.Leu392Val |
|||
rs17092144 | - |
p.Arg11Gln |
|||
rs17215759 | - |
p.Val249Ile |
|||
rs17215801 | - |
p.Phe84Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2675168 | CNV | deletion | 23128226 |
esv2759602 | CNV | loss | 17122850 |
esv3616559 | CNV | loss | 21293372 |
esv3616560 | CNV | gain | 21293372 |
esv3616561 | CNV | loss | 21293372 |
esv3616562 | CNV | loss | 21293372 |
esv3891373 | CNV | loss | 25118596 |
nsv1030738 | CNV | gain | 25217958 |
nsv1033511 | CNV | gain | 25217958 |
nsv438045 | CNV | loss | 16468122 |
nsv508498 | CNV | deletion | 20534489 |
nsv522185 | CNV | gain | 19592680 |
nsv610759 | CNV | gain | 21841781 |
nsv824563 | CNV | loss | 20364138 |
nsv8312 | CNV | gain | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
barbiturate abuse |
|
|
bipolar i disorder |
|
|
von hippel-lindau syndrome |
|
|
adrenal neuroblastoma |
|
|
multiple mucosal neuroma |
|
|