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

Gene ID: 6570, updated on 7-Jun-2020

Summary

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 MIM:193002
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]
Expression
Biased expression in adrenal (RPKM 13.1), colon (RPKM 1.0) and 1 other tissue See more
Orthologs

Genomic context

See SLC18A1 in Genome Data Viewer
Location:
8p21.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (20144855..20183206, 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 RNA, U6 small nuclear 892, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
monoamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
monoamine transmembrane transporter activity TAS
Traceable Author Statement
more info
PubMed 
serotonin:sodium symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
xenobiotic transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aminergic neurotransmitter loading into synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
monoamine transport TAS
Traceable Author Statement
more info
PubMed 
neurotransmitter transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serotonin uptake IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
xenobiotic transport 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
 
synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
terminal bouton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    ENSP00000387549.1, ENST00000440926.3
    Conserved Domains (3) summary
    cd06174
    Location:302479
    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 ...
    TIGR00880
    Location:140281
    2_A_01_02; Multidrug resistance protein
    pfam07690
    Location:139445
    MFS_1; Major Facilitator Superfamily
  2. NM_001142324.2NP_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
    ENSP00000265808.7, ENST00000265808.11
    Conserved Domains (3) summary
    cd06174
    Location:305447
    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 ...
    TIGR00880
    Location:140281
    2_A_01_02; Multidrug resistance protein
    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
    ENSP00000413361.1, ENST00000437980.3
    Conserved Domains (3) summary
    cd06174
    Location:302445
    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 ...
    TIGR00880
    Location:140281
    2_A_01_02; Multidrug resistance protein
    pfam07690
    Location:139444
    MFS_1; Major Facilitator Superfamily
  4. NM_003053.4NP_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
    ENSP00000276373.5, ENST00000276373.10
    Conserved Domains (3) summary
    cd06174
    Location:302479
    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 ...
    TIGR00880
    Location:140281
    2_A_01_02; Multidrug resistance protein
    pfam07690
    Location:139445
    MFS_1; Major Facilitator Superfamily

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    20144855..20183206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544625.1XP_011542927.1  chromaffin granule amine transporter isoform X1

    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
  2. XM_011544626.1XP_011542928.1  chromaffin granule amine transporter isoform X2

    See identical proteins and their annotated locations for XP_011542928.1

    UniProtKB/Swiss-Prot
    P54219
    Related
    ENSP00000429664.1, ENST00000519026.5
    Conserved Domains (3) summary
    cd06174
    Location:305447
    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 ...
    TIGR00880
    Location:140281
    2_A_01_02; Multidrug resistance protein
    pfam07690
    Location:139413
    MFS_1; Major Facilitator Superfamily
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