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SLC18A1 solute carrier family 18 member A1 [ Homo sapiens (human) ]

Gene ID: 6570, updated on 8-May-2016
Official Symbol
SLC18A1provided by HGNC
Official Full Name
solute carrier family 18 member A1provided by HGNC
Primary source
HGNC:HGNC:10934
See related
Ensembl:ENSG00000036565 HPRD:01897; MIM:193002; Vega:OTTHUMG00000097017
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CGAT; VAT1; VMAT1
Summary
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]
Orthologs
Location:
8p21.3
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (20144855..20183338, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (20002366..20040717, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379311 Neighboring gene ribosomal protein L30 pseudogene 9 Neighboring gene uncharacterized LOC105379312 Neighboring gene ATPase H+ transporting V1 subunit B2 Neighboring gene uncharacterized LOC105379313

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
NHGRI GWA Catalog
Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
NHGRI GWA Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
NHGRI GWA Catalog
Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies.
NHGRI GWA Catalog
  • Alcoholism, organism-specific biosystem (from KEGG)
    Alcoholism, organism-specific biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Alcoholism, conserved biosystem (from KEGG)
    Alcoholism, conserved biosystemAlcoholism, also called dependence on alcohol (ethanol), is a chronic relapsing disorder that is progressive and has serious detrimental health outcomes. As one of the primary mediators of the reward...
  • Amphetamine addiction, organism-specific biosystem (from KEGG)
    Amphetamine addiction, organism-specific biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
  • Amphetamine addiction, conserved biosystem (from KEGG)
    Amphetamine addiction, conserved biosystemAmphetamine is a psychostimulant drug that exerts persistent addictive effects. Most addictive drugs increase extracellular concentrations of dopamine (DA) in nucleus accumbens (NAc) and medial prefr...
  • Cocaine addiction, organism-specific biosystem (from KEGG)
    Cocaine addiction, organism-specific biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
  • Cocaine addiction, conserved biosystem (from KEGG)
    Cocaine addiction, conserved biosystemDrug addiction is a chronic, relapsing disorder in which compulsive drug-seeking and drug-taking behavior persists despite serious negative consequences.There is strong evidence that the dopaminergic...
  • Dopaminergic synapse, organism-specific biosystem (from KEGG)
    Dopaminergic synapse, organism-specific biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Dopaminergic synapse, conserved biosystem (from KEGG)
    Dopaminergic synapse, conserved biosystemDopamine (DA) is an important and prototypical slow neurotransmitter in the mammalian brain, where it controls a variety of functions including locomotor activity, motivation and reward, learning an...
  • Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystem (from REACTOME)
    Na+/Cl- dependent neurotransmitter transporters, organism-specific biosystemThe SLC6 gene family encodes proteins that mediate neurotransmitter uptake thus terminating a synaptic signal. The proteins mediate transport of GABA (gamma-aminobutyric acid), norepinephrine, dopami...
  • Parkinson's disease, organism-specific biosystem (from KEGG)
    Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic (DA) neurons in the substantia nigra pars compacta (SNc). Mutations...
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Serotonergic synapse, organism-specific biosystem (from KEGG)
    Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
  • Synaptic Vesicle Pathway, organism-specific biosystem (from WikiPathways)
    Synaptic Vesicle Pathway, organism-specific biosystemPathway depicting synaptic transmission of neurotransmitters from the presynaptic nerve terminal to the synaptic cleft upon depolarization. Synaptotagmin mediated transport along the nerve cell cytos...
  • Synaptic vesicle cycle, organism-specific biosystem (from KEGG)
    Synaptic vesicle cycle, organism-specific biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Synaptic vesicle cycle, conserved biosystem (from KEGG)
    Synaptic vesicle cycle, conserved biosystemCommunication between neurons is mediated by the release of neurotransmitter from synaptic vesicles (SVs). At the nerve terminal, SVs cycle through repetitive episodes of exocytosis and endocytosis. ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
drug transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
enzyme binding IEA
Inferred from Electronic Annotation
more info
 
monoamine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
serotonin transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to lithium ion IEA
Inferred from Electronic Annotation
more info
 
drug transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
monoamine transport TAS
Traceable Author Statement
more info
PubMed 
negative regulation of serotonin uptake IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dopamine secretion IEA
Inferred from Electronic Annotation
more info
 
serotonin uptake IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
clathrin-sculpted monoamine transport vesicle membrane TAS
Traceable Author Statement
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
presynapse IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
chromaffin granule amine transporter
Names
solute carrier family 18 (vesicular monoamine transporter), member 1
solute carrier family 18 (vesicular monoamine), member 1
solute carrier family 18 member 1
vesicular amine transporter 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001135691.2NP_001129163.1  chromaffin granule amine transporter isoform a

    See identical proteins and their annotated locations for NP_001129163.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest protein (isoform a). Variants 1 and 2 both encode the same protein.
    Source sequence(s)
    AC025853, BC006317, BC009387, U39905
    Consensus CDS
    CCDS6013.1
    UniProtKB/Swiss-Prot
    P54219
    UniProtKB/TrEMBL
    Q96GL6
    Related
    ENSP00000387549, ENST00000440926
    Conserved Domains (2) summary
    cd06174
    Location:139479
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139445
    MFS_1; Major Facilitator Superfamily
  2. NM_001142324.1NP_001135796.1  chromaffin granule amine transporter isoform b

    See identical proteins and their annotated locations for NP_001135796.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the central coding region, compared to variant 1. The resulting isoform (b) has the same N- and C-termini but lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AC025853, BC006317, BC009387, U39905
    Consensus CDS
    CCDS47814.1
    UniProtKB/Swiss-Prot
    P54219
    UniProtKB/TrEMBL
    Q96GL6
    Related
    ENSP00000265808, OTTHUMP00000224712, ENST00000265808, OTTHUMT00000375117
    Conserved Domains (2) summary
    cd06174
    Location:139447
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139413
    MFS_1; Major Facilitator Superfamily
  3. NM_001142325.1NP_001135797.1  chromaffin granule amine transporter isoform c

    See identical proteins and their annotated locations for NP_001135797.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), also known as VMAT1delta15, lacks an alternate exon in the 3' coding region resulting in a frameshift, compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AC025853, BC006317, BC009387, U39905
    Consensus CDS
    CCDS47815.1
    UniProtKB/Swiss-Prot
    P54219
    UniProtKB/TrEMBL
    Q96GL6
    Related
    ENSP00000413361, ENST00000437980
    Conserved Domains (2) summary
    cd06174
    Location:139444
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139444
    MFS_1; Major Facilitator Superfamily
  4. NM_003053.3NP_003044.1  chromaffin granule amine transporter isoform a

    See identical proteins and their annotated locations for NP_003044.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein (isoform a).
    Source sequence(s)
    AC025853, BC006317, BC009387, U39905
    Consensus CDS
    CCDS6013.1
    UniProtKB/Swiss-Prot
    P54219
    UniProtKB/TrEMBL
    Q96GL6
    Related
    ENSP00000276373, OTTHUMP00000122508, ENST00000276373, OTTHUMT00000214106
    Conserved Domains (2) summary
    cd06174
    Location:139479
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139445
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    20144855..20183338 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544624.1XP_011542926.1  

    See identical proteins and their annotated locations for XP_011542926.1

    UniProtKB/Swiss-Prot
    P54219
    Conserved Domains (2) summary
    cd06174
    Location:139479
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139445
    MFS_1; Major Facilitator Superfamily
  2. XM_011544625.1XP_011542927.1  

    Conserved Domains (2) summary
    cd06174
    Location:139451
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139417
    MFS_1; Major Facilitator Superfamily
  3. XM_011544626.1XP_011542928.1  

    See identical proteins and their annotated locations for XP_011542928.1

    UniProtKB/Swiss-Prot
    P54219
    Related
    ENSP00000429664, OTTHUMP00000224714, ENST00000519026, OTTHUMT00000375119
    Conserved Domains (2) summary
    cd06174
    Location:139447
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139413
    MFS_1; Major Facilitator Superfamily
  4. XM_011544628.1XP_011542930.1  

    See identical proteins and their annotated locations for XP_011542930.1

    UniProtKB/Swiss-Prot
    P54219
    Related
    ENSP00000371021, OTTHUMP00000237226, ENST00000381608, OTTHUMT00000396903
    Conserved Domains (2) summary
    cd06174
    Location:139444
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139444
    MFS_1; Major Facilitator Superfamily
  5. XM_011544627.1XP_011542929.1  

    See identical proteins and their annotated locations for XP_011542929.1

    UniProtKB/Swiss-Prot
    P54219
    Related
    ENSP00000428001, OTTHUMP00000224713, ENST00000517776, OTTHUMT00000375118
    Conserved Domains (2) summary
    cd06174
    Location:139444
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139444
    MFS_1; Major Facilitator Superfamily
  6. XM_011544623.1XP_011542925.1  

    See identical proteins and their annotated locations for XP_011542925.1

    UniProtKB/Swiss-Prot
    P54219
    Conserved Domains (2) summary
    cd06174
    Location:139479
    MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    pfam07690
    Location:139445
    MFS_1; Major Facilitator Superfamily

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    20204176..20242504 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)