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

    Gene ID: 6570, updated on 28-Oct-2024

    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; AllianceGenome:HGNC:10934
    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
    NEW
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    Genomic context

    See SLC18A1 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (20144855..20183136, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (20409985..20448250, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (20002366..20040647, 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:20021901-20023100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18971 Neighboring gene ATPase H+ transporting V1 subunit B2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27064 Neighboring gene RNA, U6 small nuclear 892, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

    Description
    Amerindian-specific regions under positive selection harbour new lipid variants in Latinos.
    EBI GWAS Catalog
    Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS 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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monoamine transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables monoamine:proton antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serotonin:sodium:chloride symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables xenobiotic transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in aminergic neurotransmitter loading into synaptic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in dopamine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoamine transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in norepinephrine uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in serotonin uptake IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in xenobiotic transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in clathrin-sculpted monoamine transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in presynapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in secretory granule membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    NEW Try the new Transcript table

    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_001135691.3NP_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
      E9PDJ5, P54219, Q9BRE4
      UniProtKB/TrEMBL
      B2R9B6
      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/TrEMBL
      B2R9B6
      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_001142325.2NP_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/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
      E9PDJ5, P54219, Q9BRE4
      UniProtKB/TrEMBL
      B2R9B6
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      20144855..20183136 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422119.1XP_047278075.1  chromaffin granule amine transporter isoform X3

    2. XM_011544625.2XP_011542927.1  chromaffin granule amine transporter isoform X1

      UniProtKB/TrEMBL
      B2R9B6
      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_011544626.2XP_011542928.1  chromaffin granule amine transporter isoform X2

      See identical proteins and their annotated locations for XP_011542928.1

      UniProtKB/TrEMBL
      B2R9B6
      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      20409985..20448250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361043.1XP_054217018.1  chromaffin granule amine transporter isoform X3

    2. XM_054361041.1XP_054217016.1  chromaffin granule amine transporter isoform X1

    3. XM_054361042.1XP_054217017.1  chromaffin granule amine transporter isoform X2