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SLC32A1 solute carrier family 32 member 1 [ Homo sapiens (human) ]

Gene ID: 140679, updated on 2-Oct-2018

Summary

Official Symbol
SLC32A1provided by HGNC
Official Full Name
solute carrier family 32 member 1provided by HGNC
Primary source
HGNC:HGNC:11018
See related
Ensembl:ENSG00000101438 MIM:616440; Vega:OTTHUMG00000032457
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VGAT; VIAAT
Summary
The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward brain (RPKM 6.2) See more
Orthologs

Genomic context

See SLC32A1 in Genome Data Viewer
Location:
20q11.23
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 20 NC_000020.11 (38724462..38729372)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (37353105..37358015)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene Rho GTPase activating protein 40 Neighboring gene GINS complex subunit 2 (Psf2 homolog) pseudogene Neighboring gene GATA motif-containing MPRA enhancer 112/113 Neighboring gene RNA, 7SK small nuclear pseudogene 173 Neighboring gene ARP5 actin related protein 5 homolog Neighboring gene protein phosphatase 1 regulatory subunit 16B Neighboring gene RNA, 7SL, cytoplasmic 116, 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • GABA synthesis, release, reuptake and degradation, organism-specific biosystem (from REACTOME)
    GABA synthesis, release, reuptake and degradation, organism-specific biosystemGABA is a major inhibitory neurotransmitter in the mammalian central nervous system. GABA modulates neuronal excitability throughout the nervous system. Disruption of GABA neurotransmission leads to ...
  • GABAergic synapse, organism-specific biosystem (from KEGG)
    GABAergic synapse, organism-specific biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • GABAergic synapse, conserved biosystem (from KEGG)
    GABAergic synapse, conserved biosystemGamma aminobutyric acid (GABA) is the most abundant inhibitory neurotransmitter in the mammalian central nervous system (CNS). When released in the synaptic cleft, GABA binds to three major classes o...
  • Morphine addiction, organism-specific biosystem (from KEGG)
    Morphine addiction, organism-specific biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Morphine addiction, conserved biosystem (from KEGG)
    Morphine addiction, conserved biosystemMorphine is an alkaloid from the plant extracts of opium poppy. Although morphine is highly effective for the treatment of pain, it is also known to be intensely addictive. We now know that the most ...
  • Neuronal System, organism-specific biosystem (from REACTOME)
    Neuronal System, organism-specific biosystemThe human brain contains at least 100 billion neurons, each with the ability to influence many other cells. Clearly, highly sophisticated and efficient mechanisms are needed to enable communication a...
  • Neurotransmitter Release Cycle, organism-specific biosystem (from REACTOME)
    Neurotransmitter Release Cycle, organism-specific biosystemNeurotransmitter is stored in the synaptic vesicle in the pre-synaptic terminal prior to its release in the synaptic cleft upon depolarization of the pre-synaptic membrane. The release of the neurotr...
  • Nicotine addiction, organism-specific biosystem (from KEGG)
    Nicotine addiction, organism-specific biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Nicotine addiction, conserved biosystem (from KEGG)
    Nicotine addiction, conserved biosystemNicotine is one of the main psychoactive ingredients in tobacco that contributes to the harmful tobacco smoking habit. A common feature of addictive drugs, including nicotine, is that they increase d...
  • Retrograde endocannabinoid signaling, organism-specific biosystem (from KEGG)
    Retrograde endocannabinoid signaling, organism-specific biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • Retrograde endocannabinoid signaling, conserved biosystem (from KEGG)
    Retrograde endocannabinoid signaling, conserved biosystemEndogenous cannabinoids (endocannabinoids) serve as retrograde messengers at synapses in various regions of the brain. The family of endocannabinoids includes at least five derivatives of arachidonic...
  • 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...
  • 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
  • Transmission across Chemical Synapses, organism-specific biosystem (from REACTOME)
    Transmission across Chemical Synapses, organism-specific biosystemChemical synapses are specialized junctions that are used for communication between neurons, neurons and muscle or gland cells. The synapse involves a pre-synaptic neuron and a post-synaptic neuron,...
  • Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystem (from REACTOME)
    Transport of inorganic cations/anions and amino acids/oligopeptides, organism-specific biosystemTeleologically, one might argue that inorganic cation and anion transport would be evolutionarily among the oldest transport functions. Eight families comprise the group that transports exclusively i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
amino acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
amino acid transmembrane transporter activity TAS
Traceable Author Statement
more info
 
gamma-aminobutyric acid:proton symporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid:proton symporter activity TAS
Traceable Author Statement
more info
 
glycine transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
amino acid transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gamma-aminobutyric acid transport IEA
Inferred from Electronic Annotation
more info
 
glycine transport IEA
Inferred from Electronic Annotation
more info
 
hippocampus development IEA
Inferred from Electronic Annotation
more info
 
ion transport TAS
Traceable Author Statement
more info
 
neurotransmitter loading into synaptic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neurotransmitter secretion TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
cell tip IEA
Inferred from Electronic Annotation
more info
 
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS
Traceable Author Statement
more info
 
cone cell pedicle IEA
Inferred from Electronic Annotation
more info
 
dendrite IDA
Inferred from Direct Assay
more info
PubMed 
dendrite terminus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inhibitory synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of synaptic vesicle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection terminus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection terminus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
vesicular inhibitory amino acid transporter
Names
GABA and glycine transporter
hVIAAT
solute carrier family 32 (GABA vesicular transporter), member 1
vesicular GABA transporter

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_080552.2NP_542119.1  vesicular inhibitory amino acid transporter

    See identical proteins and their annotated locations for NP_542119.1

    Status: REVIEWED

    Source sequence(s)
    BC053582, BI488536
    Consensus CDS
    CCDS13307.1
    UniProtKB/Swiss-Prot
    Q9H598
    Related
    ENSP00000217420.1, OTTHUMP00000030977, ENST00000217420.1, OTTHUMT00000079206
    Conserved Domains (1) summary
    pfam01490
    Location:115512
    Aa_trans; Transmembrane amino acid transporter protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p12 Primary Assembly

    Range
    38724462..38729372
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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