Human Gene SLC18A1 (ENST00000276373.10)
  Description: Homo sapiens solute carrier family 18 member A1 (SLC18A1), transcript variant 2, mRNA. (from RefSeq NM_003053)
RefSeq Summary (NM_003053): 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].
Gencode Transcript: ENST00000276373.10
Gencode Gene: ENSG00000036565.15
Transcript (Including UTRs)
   Position: hg38 chr8:20,144,855-20,183,136 Size: 38,282 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg38 chr8:20,145,763-20,180,964 Size: 35,202 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:20,144,855-20,183,136)mRNA (may differ from genome)Protein (525 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGIneXtProtOMIMPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: VMAT1_HUMAN
DESCRIPTION: RecName: Full=Chromaffin granule amine transporter; AltName: Full=Solute carrier family 18 member 1; AltName: Full=Vesicular amine transporter 1; Short=VAT1;
FUNCTION: Involved in the vesicular transport of biogenic amines.
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the major facilitator superfamily. Vesicular transporter family.

-  MalaCards Disease Associations
  MalaCards Gene Search: SLC18A1
Diseases sorted by gene-association score: paranoid schizophrenia (7), schizophrenia (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.69 RPKM in Small Intestine - Terminal Ileum
Total median expression: 1.93 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -58.40197-0.296 Picture PostScript Text
3' UTR -257.80908-0.284 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011701 - MFS
IPR020846 - MFS_dom
IPR016196 - MFS_dom_general_subst_transpt
IPR004734 - Multidrug-R

Pfam Domains:
PF07690 - Major Facilitator Superfamily

ModBase Predicted Comparative 3D Structure on P54219
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008504 monoamine transmembrane transporter activity
GO:0015222 serotonin transmembrane transporter activity
GO:0015238 drug transmembrane transporter activity

Biological Process:
GO:0006836 neurotransmitter transport
GO:0006837 serotonin transport
GO:0006855 drug transmembrane transport
GO:0015842 aminergic neurotransmitter loading into synaptic vesicle
GO:0015844 monoamine transport
GO:0015893 drug transport
GO:0055085 transmembrane transport

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction
GO:0030659 cytoplasmic vesicle membrane
GO:0030672 synaptic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0045202 synapse
GO:0070083 clathrin-sculpted monoamine transport vesicle membrane


-  Descriptions from all associated GenBank mRNAs
  KJ897575 - Synthetic construct Homo sapiens clone ccsbBroadEn_06969 SLC18A1 gene, encodes complete protein.
KJ901746 - Synthetic construct Homo sapiens clone ccsbBroadEn_11140 SLC18A1 gene, encodes complete protein.
KR710373 - Synthetic construct Homo sapiens clone CCSBHm_00012038 SLC18A1 (SLC18A1) mRNA, encodes complete protein.
KR710374 - Synthetic construct Homo sapiens clone CCSBHm_00012039 SLC18A1 (SLC18A1) mRNA, encodes complete protein.
BC006317 - Homo sapiens solute carrier family 18 (vesicular monoamine), member 1, mRNA (cDNA clone MGC:12717 IMAGE:4125784), complete cds.
BC009387 - Homo sapiens solute carrier family 18 (vesicular monoamine), member 1, mRNA (cDNA clone MGC:15281 IMAGE:4127678), complete cds.
U39905 - Human vesicular monoamine transporter VMAT1 mRNA, complete cds.
JD551625 - Sequence 532649 from Patent EP1572962.
JD404184 - Sequence 385208 from Patent EP1572962.
JD303550 - Sequence 284574 from Patent EP1572962.
JD133572 - Sequence 114596 from Patent EP1572962.
JD496154 - Sequence 477178 from Patent EP1572962.
JD507573 - Sequence 488597 from Patent EP1572962.
JD489664 - Sequence 470688 from Patent EP1572962.
JD042068 - Sequence 23092 from Patent EP1572962.
JD180931 - Sequence 161955 from Patent EP1572962.
JD276148 - Sequence 257172 from Patent EP1572962.
JD165851 - Sequence 146875 from Patent EP1572962.
JD214768 - Sequence 195792 from Patent EP1572962.
JD133081 - Sequence 114105 from Patent EP1572962.
JD322278 - Sequence 303302 from Patent EP1572962.
JD456702 - Sequence 437726 from Patent EP1572962.
JD199306 - Sequence 180330 from Patent EP1572962.
JD133856 - Sequence 114880 from Patent EP1572962.
DQ892730 - Synthetic construct clone IMAGE:100005360; FLH189177.01X; RZPDo839C0574D solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1) gene, encodes complete protein.
DQ893445 - Synthetic construct Homo sapiens clone IMAGE:100006075; FLH263529.01X; RZPDo839H0982D solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1) gene, encodes complete protein.
AK313720 - Homo sapiens cDNA, FLJ94316, highly similar to Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), mRNA.
DQ895976 - Synthetic construct Homo sapiens clone IMAGE:100010436; FLH189173.01L; RZPDo839C0564D solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1) gene, encodes complete protein.
JD270696 - Sequence 251720 from Patent EP1572962.
JD491844 - Sequence 472868 from Patent EP1572962.
JD528761 - Sequence 509785 from Patent EP1572962.
JD527000 - Sequence 508024 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05012 - Parkinson's disease

Reactome (by CSHL, EBI, and GO)

Protein P54219 (Reactome details) participates in the following event(s):

R-HSA-444160 VMAT1/2 can mediate the transport of biogenic amines
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425428 Amine compound SLC transporters
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000276373.1, ENST00000276373.2, ENST00000276373.3, ENST00000276373.4, ENST00000276373.5, ENST00000276373.6, ENST00000276373.7, ENST00000276373.8, ENST00000276373.9, NM_003053, P54219, uc003wzm.1, uc003wzm.2, uc003wzm.3, uc003wzm.4, VAT1, VMAT1, VMAT1_HUMAN
UCSC ID: ENST00000276373.10
RefSeq Accession: NM_003053
Protein: P54219 (aka VMAT1_HUMAN)
CCDS: CCDS6013.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.