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SLC18A1 Gene

protein-coding   GIFtS: 62
GCID: GC08M020002

Solute Carrier Family 18 (Vesicular Monoamine Transporter),...


(Previous symbols: VMAT1, VAT1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 18 (Vesicular Monoamine Transporter), Member
11 2
     Vesicular Amine Transporter 12 3
VAT11 2 3 5     CGAT2 5
VMAT11 2 3 5     Chromaffin Granule Amine Transporter2
Solute Carrier Family 18 Member 12 3     Solute Carrier Family 18 (Vesicular Monoamine), Member 12

External Ids:    HGNC: 109341   Entrez Gene: 65702   Ensembl: ENSG000000365657   OMIM: 1930025   UniProtKB: P542193   

Export aliases for SLC18A1 gene to outside databases

Previous GC identifers: GC08M019877 GC08M020064 GC08M020012 GC08M020046 GC08M018542


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC18A1 Gene:
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)

GeneCards Summary for SLC18A1 Gene:
SLC18A1 (solute carrier family 18 (vesicular monoamine transporter), member 1) is a protein-coding gene. Diseases associated with SLC18A1 include systemic mastocytosis, and bipolar i disorder. GO annotations related to this gene include drug transmembrane transporter activity and monoamine transmembrane transporter activity. An important paralog of this gene is SLC18B1.

UniProtKB/Swiss-Prot: VMAT1_HUMAN, P54219
Function: Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the
secretory vesicles of neuroendocrine and endocrine cells




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC18A1 gene promoter:
         AML1a   NRSF form 1   NRSF form 2   YY1   Arnt   Evi-1   C/EBPalpha   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC18A1 promoter sequence
   Search Chromatin IP Primers for SLC18A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC18A1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.3   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21.3

SLC18A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC18A1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M020002:  view genomic region     (about GC identifiers)

Start:
20,002,366 bp from pter      End:
20,040,717 bp from pter
Size:
38,352 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VMAT1_HUMAN, P54219 (See protein sequence)
Recommended Name: Chromaffin granule amine transporter  
Size: 525 amino acids; 56257 Da
Secondary accessions: E9PDJ5 Q9BRE4
Alternative splicing: 3 isoforms:  P54219-1   P54219-2   P54219-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC18A1: NX_P54219

Explore proteomics data for SLC18A1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn58, Asn87, Asn104
  • Modification sites at PhosphoSitePlus

  • See SLC18A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001129163.1  NP_001135796.1  NP_001135797.1  NP_003044.1  

    ENSEMBL proteins: 
     ENSP00000265808   ENSP00000276373   ENSP00000428001   ENSP00000429664   ENSP00000371021  
     ENSP00000428999   ENSP00000387549   ENSP00000413361  
    Reactome Protein details: P54219

    SLC18A1 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Vesicular monoamine transporter 1
    SLC18 family of vesicular amine transporters

    4 InterPro protein domains:
     IPR004734 Multidrug-R
     IPR011701 MFS
     IPR020846 MFS_dom
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry P54219

    ProtoNet protein and cluster: P54219

    UniProtKB/Swiss-Prot: VMAT1_HUMAN, P54219
    Similarity: Belongs to the major facilitator superfamily. Vesicular transporter family


    SLC18A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VMAT1_HUMAN, P54219
    Function: Involved in the transport of biogenic monoamines, such as serotonin, from the cytoplasm into the
    secretory vesicles of neuroendocrine and endocrine cells

         Genatlas biochemistry entry for SLC18A1:
    solute carrier family 18,member A1,vesicular monoamine transporter,expressed in adrenals

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008504monoamine transmembrane transporter activity TAS8643547
    GO:0015238drug transmembrane transporter activity IEA--
         
    SLC18A1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc18a1):
     behavior/neurological  cellular  nervous system  normal 

    SLC18A1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC18A1
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    miRNA
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    miRTarBase miRNAs that target SLC18A1:
    hsa-mir-335-5p (MIRT016832), hsa-mir-93-5p (MIRT048825)

    Block miRNA regulation of human, mouse, rat SLC18A1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate SLC18A1:
    hsa-miR-3678-3p hsa-miR-298 hsa-miR-125a-3p hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidSLC18A1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC18A1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VMAT1_HUMAN, P54219: Isoform 1: Cytoplasmic vesicle membrane; Multi-pass membrane protein
    VMAT1_HUMAN, P54219: Isoform 2: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0070083clathrin-sculpted monoamine transport vesicle membrane TAS--

    SLC18A1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for SLC18A1 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    Synaptic vesicle cycle0.50
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.47
    Na+/Cl- dependent neurotransmitter transporters0.00
    3Amphetamine addiction
    Cocaine addiction0.44
    Amphetamine addiction0.44
    4Circadian entrainment
    Dopaminergic synapse0.37
    Serotonergic synapse0.33
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC18A1
        Synaptic Vesicle Pathway

    1 Reactome Pathway for SLC18A1
        Na+/Cl- dependent neurotransmitter transporters

    1 PharmGKB Pathway for SLC18A1
        Sympathetic Nerve Pathway (Neuroeffector Junction)

    Selected Kegg Pathways  (Kegg details for SLC18A1) (see all 7):
        Synaptic vesicle cycle
    Serotonergic synapse
    Dopaminergic synapse
    Parkinson's disease
    Cocaine addiction


    SLC18A1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLC18A1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLC18A1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC18A1 (ENSP000002763734) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRT1ENSP000002120154STRING: ENSP00000212015
    SIRT2ENSP000002493964STRING: ENSP00000249396
    SLC6A3ENSP000002703494STRING: ENSP00000270349
    SLC6A2ENSP000003692374STRING: ENSP00000369237
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006836neurotransmitter transport IEA--
    GO:0015844monoamine transport TAS8643547
    GO:0015893drug transport ----
    GO:0055085transmembrane transport TAS--

    SLC18A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SLC18A1 (VMAT1)

    3 DrugBank Compounds for SLC18A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    EphedraChinese jointfir (see all 3)--targetinhibitor9587917 17209801 15955613
    MMDA(+-)-mmda (see all 7)13674-05-0targetinhibitor9587917 17209801 15955613
    Methamphetamine(+ )-methylamphetamine (see all 46)537-46-2targetinhibitor9587917 17209801 15955613

    3 IUPHAR Ligands for SLC18A1 (Vesicular monoamine transporter 1)    About this table
    LigandTypeActionAffinityPubmed IDs
    reserpine
    InhibitorInhibition7.458643547
    ketanserin
    InhibitorInhibition5.88643547
    tetrabenazine
    InhibitorInhibition4.78643547

    4 Novoseek inferred chemical compound relationships for SLC18A1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amine 55.5 4 7905859 (1)
    acetylcholine 38.6 2 12827358 (1)
    dopamine 35.5 1 12955095 (1)
    tyrosine 0 1 11431013 (1)



    SLC18A1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SLC18A1 gene (4 alternative transcripts): 
    NM_001135691.2  NM_001142324.1  NM_001142325.1  NM_003053.3  

    Unigene Cluster for SLC18A1:

    Solute carrier family 18 (vesicular monoamine), member 1
    Hs.158322  [show with all ESTs]
    Unigene Representative Sequence: NM_001135691
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000265808 ENST00000276373(uc003wzm.3) ENST00000517776(uc010ltf.3)
    ENST00000519026 ENST00000381608 ENST00000519171 ENST00000522513 ENST00000524272
    ENST00000440926(uc011kyq.2 uc003wzn.3) ENST00000437980(uc011kyr.2)


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    hsa-miR-3678-3p hsa-miR-298 hsa-miR-125a-3p hsa-miR-4263
    SwitchGear 3'UTR luciferase reporter plasmidSLC18A1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat SLC18A1

    Additional mRNA sequence: 

    AK313720.1 BC006317.2 U39905.1 

    5 DOTS entries:

    DT.100782690  DT.100744163  DT.91682585  DT.100711569  DT.100782691 

    Selected AceView cDNA sequences (see all 38):

    CR612722 BQ723381 CR593627 BX375143 CR604993 AL526410 BX417564 CR621905 
    BX332143 BC009387 BX394451 BX283515 BQ917568 BQ888153 BF311109 BX376808 
    BX352730 U39905 BC006317 NM_003053 BF206788 BX352923 BX374536 BX464415 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC18A1 (see all 6)    About this scheme

    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:                                                                                                                                          


    ECgene alternative splicing isoforms for SLC18A1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SLC18A1 expression in normal human tissues (normalized intensities)      SLC18A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAAGAAGTT
    SLC18A1 Expression
    About this image


    SLC18A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Proximal Tubule Cells Proximal Tubule
             Metanephros
     
     Neurons
             Dopaminergic-like neurons
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain dopaminergic-like neurons
     
     Epithelial Cells
             Proximal Tubule Cells Proximal Tubule
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
    SLC18A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC18A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.158322
        Pathway & Disease-focused RT2 Profiler PCR Array including SLC18A1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC18A1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for SLC18A1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc18a11 , 5 solute carrier family 18 (vesicular monoamine), member more1, 5 84.07(n)1
    83.11(a)1
      8 (33.88 cM)5
    1108771  NM_153054.21  NP_694694.11 
     690377115 
    chicken
    (Gallus gallus)
    Aves SLC18A11 solute carrier family 18 (vesicular monoamine), member more 71.54(n)
    74.9(a)
      431330  XM_004947578.1  XP_004947635.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC18A16
    solute carrier family 18 (vesicular monoamine tran...
    70(a)
    1 ↔ 1
    GL343238.1(1007693-1034895)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC041717.12   -- 70.34(n)    BC041717.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003318991 chromaffin granule amine transporter-like 66.14(n)
    68.45(a)
      100331899  XM_002663216.2  XP_002663262.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG61193 monoamine transporter 63(a)
    (best of 2)
      50A15   --
    worm
    (Caenorhabditis elegans)
    Secernentea cat-13 synaptic vesicle amine transporter 42(a)   X(5740990-5742653)   --


    ENSEMBL Gene Tree for SLC18A1 (if available)
    TreeFam Gene Tree for SLC18A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC18A1 gene
    SLC18B12  SLC18A22  SLC18A32  
    3 SIMAP similar genes for SLC18A1 using alignment to 4 protein entries:     VMAT1_HUMAN (see all proteins):
    SLC18A2    VMAT2    SLC18A3

    SLC18A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SLC18A1 (see all 1471)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1904060321,2
    --20001876(+) ATCATC/TTGCAT 4 -- int10--------
    rs1487795381,2
    --20001883(+) GCATGA/GTGAAG 4 -- int10--------
    rs70038581,2
    C,F,A,H--20001995(+) TCCAGA/GTAAAG 4 -- int130Minor allele frequency- G:0.36EA NA NS WA CSA 2750
    rs1171047061,2
    C,F--20002094(+) TATTTC/ACCACC 4 -- int11Minor allele frequency- A:0.03EA 120
    rs1423985311,2
    C--20002126(+) GTTCAC/TACTTG 4 -- int10--------
    rs1163138261,2
    C,F--20002253(+) ATCCCA/GTCACC 4 -- int11Minor allele frequency- G:0.02WA 118
    rs170920831,2
    C,F,H--20002256(+) CCATCA/GCCCAA 4 -- int18Minor allele frequency- G:0.05NA NS EA WA 678
    rs1479691171,2
    --20002319(+) ATTTGC/GCCATA 4 -- int10--------
    rs749721791,2
    C,F--20002350(+) CAACAT/CCTAGT 4 -- int11Minor allele frequency- C:0.02WA 118
    rs1827821801,2
    --20002402(+) TATGAA/GCAATG 4 -- ut310--------

    HapMap Linkage Disequilibrium report for SLC18A1 (20002366 - 20040717 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for SLC18A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675168CNV Deletion23128226
    nsv824563CNV Loss20364138
    dgv7753n71CNV Loss21882294
    dgv7754n71CNV Loss21882294
    nsv508498CNV Loss20534489
    nsv438045CNV Loss16468122
    nsv8312CNV Gain18304495
    nsv522185CNV Gain19592680
    essv1565CNV CNV17122850

    Human Gene Mutation Database (HGMD): SLC18A1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC18A1
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC18A1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 193002    OMIM disorders: --

    16 diseases for SLC18A1:    About MalaCards
    systemic mastocytosis    bipolar i disorder    phaeochromocytoma    pancreatic endocrine tumors
    mastocytosis    irritable bowel syndrome    langerhans-cell histiocytosis    histiocytosis
    multiple endocrine neoplasia    narcolepsy    anorexia nervosa    neuroendocrine tumor
    schizophrenia    parkinson's disease    pancreatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SLC18A1:
    Schizophrenia

    SLC18A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for SLC18A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoid 53 4 10473967 (2), 11745679 (1)
    schizophrenia 32.8 5 17134514 (3), 20419435 (2)
    tumors 0 8 12871984 (4), 11159212 (2), 10473967 (1)

    Genetic Association Database (GAD): SLC18A1
    Human Genome Epidemiology (HuGE) Navigator: SLC18A1 (8 documents)

    Export disorders for SLC18A1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for SLC18A1 gene, integrated from 10 sources (see all 46):
    (articles sorted by number of sources associating them with SLC18A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of a novel splicing variant of vesicular monoamine transporter 1. (PubMed id 16326835)1, 2, 9 Essand M.... Giandomenico V. (J. Mol. Endocrinol. 2005)
    2. Association study of the vesicular monoamine transporter 1 (VMAT1) gene with schizophrenia in a Japanese population. (PubMed id 17134514)1, 4, 9 Richards M....Kunugi H. (Behav Brain Funct 2006)
    3. Association between polymorphisms in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) on chromosome 8p and schizophrenia. (PubMed id 18451639)1, 4, 9 Lohoff F.W....Berrettini W.H. (Neuropsychobiology 2008)
    4. Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder. (PubMed id 16936705)1, 4, 9 Lohoff F.W....Berrettini W.H. (Neuropsychopharmacology 2006)
    5. Distinct pharmacological properties and distribution in neurons and endocrine cells of two isoforms of the human vesicular monoamine transporter. (PubMed id 8643547)1, 2, 9 Erickson J.D.... Weihe E. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    6. Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits. (PubMed id 18249496)1, 4, 9 Lohoff F.W....Gallinat J. (Neurosci. Lett. 2008)
    7. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PubMed id 20038947)1, 4 Shyn S.I....Hamilton S.P. (Mol. Psychiatry 2011)
    8. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    9. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    10. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (Eur. J. Hum. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6570 HGNC: 10934 AceView: SLC18A1 Ensembl:ENSG00000036565 euGenes: HUgn6570
    ECgene: SLC18A1 Kegg: 6570 H-InvDB: SLC18A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SLC18A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for SLC18A1 gene:
    Search GeneIP for patents involving SLC18A1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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