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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC18A1 Gene

protein-coding   GIFtS: 60
GCID: GC08M020046

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


(Previous symbols: VMAT1, VAT1)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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 GC08M018542


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Synaptic Vesicle Pathway and Transmembrane transport of small molecules. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NT_167187.1  NC_018919.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC18A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC08M020046:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VMAT1_HUMAN, P54219 (See protein sequence)
Recommended Name: Chromaffin granule amine transporter  
Size: 525 amino acids; 56257 Da
Subcellular location: Isoform 1: Cytoplasmic vesicle membrane; Multi-pass membrane protein
Subcellular location: Isoform 2: Endoplasmic reticulum membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P54219

  • SLC18A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC18A1 Protein Expression
    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
    Human Recombinant Protein Products for SLC18A1: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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

    SLC18A1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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
     IPR020846 MFS_dom
     IPR011701 MFS
     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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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:
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC18A1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Synaptic vesicle cycle
    Synaptic vesicle cycle0.50
    Synaptic Vesicle Pathway0.50
    2SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    3Amine compound SLC transporters
    Amine compound SLC transporters0.63
    Na+/Cl- dependent neurotransmitter transporters0.63
    4Amphetamine addiction
    Amphetamine addiction0.44
    Cocaine addiction0.44
    5Circadian entrainment
    Dopaminergic synapse0.37
    Serotonergic synapse0.33

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for SLC18A1
        Synaptic Vesicle Pathway

    5        Reactome Pathways for SLC18A1
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Na+/Cl- dependent neurotransmitter transporters
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Amine compound SLC transporters

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

    5/7         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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC18A1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

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

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC18A1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about SLC18A1 / VMAT1

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional mRNA sequence: 

    AK313720.1 BC006317.2 U39905.1 

    5 DOTS entries:

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

    24/38 AceView cDNA sequences (see all 38):

    CR593627 BQ723381 AL526410 CR604993 CR612722 BX375143 CR621905 BX417564 
    BX332143 BF311109 BC009387 NM_003053 BX352730 BF206788 BQ888153 BX376808 
    U39905 BQ917568 BX394451 BX283515 BC006317 BX352923 BX374463 BX332142 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/7 selected tissues (see all 7) fully expand
     
     Kidney (Urinary System)    fully expand to see all 6 entries
             Proximal Tubule Cells Proximal Tubule
             Proximal Tubule
             visceral organ/mesonephros of male/mesonephric tubule of male   
     
     Neuron (Nervous System)    fully expand to see all 2 entries
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
             nerve   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             PERIPHERAL NERVOUS SYSTEM   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   
     
     Intestine (Gastrointestinal Tract)
             neonatal small intestine   

    See SLC18A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC18A1

    SOURCE GeneReport for Unigene cluster: Hs.158322
        SABiosciences Expression via Pathway-Focused PCR Array including SLC18A1: 
              cAMP / Ca2+ Signaling PathwayFinder in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC18A1 gene from 7/16 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 71.25(n)
    74.46(a)
      431330  XM_428881.2  XP_428881.2 
    lizard
    (Anolis carolinensis)
    Reptilia SLC18A16
    Uncharacterized protein
    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 66.73(n)
    69.51(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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1471 SNPs in SLC18A1 are shown (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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 193002    OMIM disorders: --

    16 diseases for SLC18A1:    About MalaCards
    systemic mastocytosis    bipolar i disorder    pancreatic endocrine tumor    langerhans-cell histiocytosis
    mastocytosis    irritable bowel syndrome    phaeochromocytoma    histiocytosis
    multiple endocrine neoplasia    neuroendocrine tumor    anorexia nervosa    narcolepsy
    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)
    About This Section

    PubMed articles for SLC18A1 gene, integrated from 9 sources (see all 47):
    (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. (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. (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. (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. (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. (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. (2008)
    7. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (2010)
    8. Association study of 182 candidate genes in anorexia nervosa. (PubMed id 20468064)1, 4 Pinheiro A.P....Woodside D.B. (2010)
    9. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (2009)
    10. Novel loci for major depression identified by genome- wide association study of Sequenced Treatment Alternatives to Relieve Depressio n and meta-analysis of three studies. (PubMed id 20038947)1, 4 Shyn S.I....Hamilton S.P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 6570 HGNC: 10934 AceView: SLC18A1 Ensembl:ENSG00000036565 euGenes: HUgn6570
    ECgene: SLC18A1 Kegg: 6570 H-InvDB: SLC18A1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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