SLC32A1 Gene (Protein Coding)

Solute Carrier Family 32 Member 1

GC20P038724
GIFtS:
44
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] See more...

Aliases for SLC32A1 Gene

Aliases for SLC32A1 Gene

  • Solute Carrier Family 32 Member 1 2 3 4 5
  • Vesicular Inhibitory Amino Acid Transporter 2 3 4
  • VGAT 2 3 4
  • Solute Carrier Family 32 (GABA Vesicular Transporter), Member 1 2 3
  • GABA And Glycine Transporter 3 4
  • Vesicular GABA Transporter 3 4
  • HVIAAT 3 4
  • VIAAT 3 4
  • BA122O1.1 2
  • SLC32A1 5

External Ids for SLC32A1 Gene

Previous HGNC Symbols for SLC32A1 Gene

  • VIAAT

Previous GeneCards Identifiers for SLC32A1 Gene

  • GC00U990497
  • GC20P036787
  • GC20P037353
  • GC20P034090

Summaries for SLC32A1 Gene

Entrez Gene Summary for SLC32A1 Gene

  • 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]

GeneCards Summary for SLC32A1 Gene

SLC32A1 (Solute Carrier Family 32 Member 1) is a Protein Coding gene. Diseases associated with SLC32A1 include Generalized Epilepsy With Febrile Seizures Plus and Amelogenesis Imperfecta, Type Iiia. Among its related pathways are Nicotine addiction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include amino acid transmembrane transporter activity and gamma-aminobutyric acid:proton symporter activity. An important paralog of this gene is SLC38A2.

UniProtKB/Swiss-Prot Summary for SLC32A1 Gene

  • Involved in the uptake of GABA and glycine into the synaptic vesicles.

Gene Wiki entry for SLC32A1 Gene

Additional gene information for SLC32A1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC32A1 Gene

Genomics for SLC32A1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC32A1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J038734 Promoter 0.7 EPDnew 250.7 0.0 -19 0.1 ZNF341 KLF16 GLIS1 SP1 EZH2 PATZ1 POLR2A ZFHX2 EGR1 ZBTB26 HSALNG0130002 HSALNG0130003 SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10 ARHGAP40
GH20J038726 Enhancer 0.7 ENCODE 250.7 +1.6 1567 0.2 MXD4 CTCF REST ZSCAN9 SMC3 YY1 RAD21 MBD1 MYRF MXD3 SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10 ACTR5
GH20J038722 Enhancer 0.6 FANTOM5 260.7 -1.5 -1515 0.6 SPI1 GLIS1 SP7 ZSCAN4 EZH2 POLR2A GLIS2 ZNF335 ZNF600 SLC32A1 HSALNG0130002 HSALNG0130003 lnc-SLC32A1-1 lnc-KIAA1755-10 ENSG00000277965 ARHGAP40
GH20J038732 Enhancer 0.6 ENCODE 250.7 +0.9 887 0.1 ETS1 REST CTCF SP2 EGR1 SP1 POU5F1 EZH2 EGR2 RAD21 HSALNG0130002 SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10 ACTR5
GH20J038724 Promoter 0.6 EPDnew 250.7 +0.1 89 0.1 ZNF341 EZH2 POLR2A ZNF335 HSALNG0130002 HSALNG0130003 SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10 ACTR5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC32A1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC32A1

Top Transcription factor binding sites by QIAGEN in the SLC32A1 gene promoter:
  • ATF-2
  • ATF6
  • CRE-BP1
  • GATA-1
  • LCR-F1
  • Pax-4a
  • Pax-5
  • RelA
  • XBP-1

Genomic Locations for SLC32A1 Gene

Latest Assembly
chr20:38,724,486-38,729,372
(GRCh38/hg38)
Size:
4,887 bases
Orientation:
Plus strand

Previous Assembly
chr20:37,353,129-37,358,015
(GRCh37/hg19 by Entrez Gene)
Size:
4,887 bases
Orientation:
Plus strand

chr20:37,353,105-37,358,015
(GRCh37/hg19 by Ensembl)
Size:
4,911 bases
Orientation:
Plus strand

Genomic View for SLC32A1 Gene

Genes around SLC32A1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC32A1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC32A1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC32A1 Gene

Proteins for SLC32A1 Gene

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  • Protein details for SLC32A1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H598-VIAAT_HUMAN
    Recommended name:
    Vesicular inhibitory amino acid transporter
    Protein Accession:
    Q9H598
    Secondary Accessions:
    • Q8N489

    Protein attributes for SLC32A1 Gene

    Size:
    525 amino acids
    Molecular mass:
    57415 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH36458.2; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC32A1 Gene

Protein Expression for SLC32A1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC32A1 Gene

  • Glycosylation at Asn341
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC32A1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC32A1 Gene

Domains & Families for SLC32A1 Gene

Gene Families for SLC32A1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC32A1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC32A1 Gene

GenScript: Design optimal peptide antigens:
  • Vesicular GABA transporter (VIAAT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H598

UniProtKB/Swiss-Prot:

VIAAT_HUMAN :
  • Belongs to the amino acid/polyamine transporter 2 family.
Family:
  • Belongs to the amino acid/polyamine transporter 2 family.
genes like me logo Genes that share domains with SLC32A1: view

Function for SLC32A1 Gene

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  6. Cell Lines for research

Molecular function for SLC32A1 Gene

UniProtKB/Swiss-Prot Function:
Involved in the uptake of GABA and glycine into the synaptic vesicles.

Phenotypes From GWAS Catalog for SLC32A1 Gene

Gene Ontology (GO) - Molecular Function for SLC32A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015187 glycine transmembrane transporter activity IEA --
GO:0015495 gamma-aminobutyric acid:proton symporter activity TAS --
genes like me logo Genes that share ontologies with SLC32A1: view
genes like me logo Genes that share phenotypes with SLC32A1: view

Animal Models for SLC32A1 Gene

MGI Knock Outs for SLC32A1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC32A1

miRNA for SLC32A1 Gene

miRTarBase miRNAs that target SLC32A1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC32A1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SLC32A1 Gene

Localization for SLC32A1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC32A1 Gene

Cytoplasmic vesicle membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC32A1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for SLC32A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030285 integral component of synaptic vesicle membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with SLC32A1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC32A1 Gene

Pathways & Interactions for SLC32A1 Gene

genes like me logo Genes that share pathways with SLC32A1: view

Gene Ontology (GO) - Biological Process for SLC32A1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003333 amino acid transmembrane transport IEA --
GO:0006811 ion transport TAS --
GO:0006836 neurotransmitter transport IEA --
GO:0007269 neurotransmitter secretion TAS --
GO:0007568 aging IEA --
genes like me logo Genes that share ontologies with SLC32A1: view

No data available for SIGNOR curated interactions for SLC32A1 Gene

Drugs & Compounds for SLC32A1 Gene

Products:

  1. Drug products for research

(8) Drugs for SLC32A1 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycine Approved, Vet_approved Nutra Transporter, substrate 202
Vigabatrin Approved Pharma Inhibitor, Inhibition GABA-T inhibitor 29

(2) Additional Compounds for SLC32A1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC32A1: view

Transcripts for SLC32A1 Gene

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  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for SLC32A1 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC32A1

Alternative Splicing Database (ASD) splice patterns (SP) for SLC32A1 Gene

No ASD Table

Relevant External Links for SLC32A1 Gene

GeneLoc Exon Structure for
SLC32A1

Expression for SLC32A1 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC32A1 Gene

mRNA expression in normal human tissues for SLC32A1 Gene
mRNA expression by BioGPS for SLC32A1 GenemRNA expression by GTEx for SLC32A1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC32A1 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x12.3), Brain - Putamen (basal ganglia) (x8.8), Brain - Caudate (basal ganglia) (x6.9), and Brain - Hypothalamus (x4.3).

Protein differential expression in normal tissues from HIPED for SLC32A1 Gene

This gene is overexpressed in Fetal Brain (35.2), Frontal cortex (16.1), and Retina (15.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC32A1 Gene



Protein tissue co-expression partners for SLC32A1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC32A1

SOURCE GeneReport for Unigene cluster for SLC32A1 Gene:

Hs.179080

mRNA Expression by UniProt/SwissProt for SLC32A1 Gene:

Q9H598-VIAAT_HUMAN
Tissue specificity: Retina. Expressed throughout the horizontal cells or more specifically at the terminals.

Evidence on tissue expression from TISSUES for SLC32A1 Gene

  • Nervous system(4.8)
  • Eye(2.5)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with SLC32A1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC32A1 Gene

Orthologs for SLC32A1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC32A1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC32A1 30 31
  • 99.43 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC32A1 30 31
  • 93.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SLC32A1 30 31
  • 93.46 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC32A1 31
  • 93 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc32a1 30
  • 92.18 (n)
Mouse
(Mus musculus)
 Mammalia Slc32a1 30 17 31
  • 91.92 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC32A1 31
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves SLC32A1 30 31
  • 80.23 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC32A1 31
  • 91 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc32a1 30
  • 75.87 (n)
African clawed frog
(Xenopus laevis)
 Amphibia MGC68938 30
Zebrafish
(Danio rerio)
 Actinopterygii slc32a1 30 31
  • 81.26 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011116 30
  • 61.44 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta VGAT 30 31
  • 58.06 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea unc-47 30 31
  • 48.65 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AVT1 31 33
  • 17 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT2G41190 30
  • 37.62 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 39 (a)
 OneToOne
Species where no ortholog for SLC32A1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC32A1 Gene

ENSEMBL:
Gene Tree for SLC32A1 (if available)
TreeFam:
Gene Tree for SLC32A1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC32A1: view image

Paralogs for SLC32A1 Gene

Paralogs for SLC32A1 Gene

genes like me logo Genes that share paralogs with SLC32A1: view

Variants for SLC32A1 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC32A1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
918042 Likely Pathogenic: Generalized epilepsy with febrile seizures plus 38,728,464(+) T/C
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro) 		MISSENSE
918043 Likely Pathogenic: Generalized epilepsy with febrile seizures plus 38,728,050(+) T/C
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr) 		MISSENSE
918044 Likely Pathogenic: Generalized epilepsy with febrile seizures plus 38,728,452(+) C/G
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg) 		MISSENSE
918045 Uncertain Significance: Generalized epilepsy with febrile seizures plus 38,727,849(+) T/C
NM_080552.3(SLC32A1):c.788T>C (p.Val263Ala) 		MISSENSE
918046 Likely Pathogenic: Generalized epilepsy with febrile seizures plus 38,728,443(+) G/A
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC32A1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC32A1 Gene

Variant ID Type Subtype PubMed ID
nsv1058457 CNV loss 25217958
nsv954035 CNV deletion 24416366

Variation tolerance for SLC32A1 Gene

Residual Variation Intolerance Score: 20.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC32A1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC32A1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC32A1 Gene

Disorders for SLC32A1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for SLC32A1 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC32A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC32A1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC32A1 Gene

Publications for SLC32A1 Gene

  1. Vesicular inhibitory amino acid transporter is a Cl-/gamma-aminobutyrate Co-transporter. (PMID: 19843525) Juge N … Moriyama Y (The Journal of biological chemistry 2009) 2 3 23
  2. Genetical genomic determinants of alcohol consumption in rats and humans. (PMID: 19874574) Tabakoff B … WHO/ISBRA Study on State and Trait Markers of Alcoholism (BMC biology 2009) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The SLC32 transporter, a key protein for the synaptic release of inhibitory amino acids. (PMID: 12750892) Gasnier B (Pflugers Archiv : European journal of physiology 2004) 3 23

ExternalLinks

View latest publications for SLC32A1 gene in Mastermind

Products for SLC32A1 Gene

Sources for SLC32A1 Gene