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
  • 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
  • VGAT 3 4

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 Cardiomyopathy, Familial Hypertrophic, 20 and Amelogenesis Imperfecta, Type Iiia. Among its related pathways are Synaptic vesicle cycle and GABAergic synapse. 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 SLC38A6.

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 for SLC32A1 Gene

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
GH20J038732 Promoter/Enhancer 1.1 Ensembl ENCODE 500.7 +1.2 1239 1 CTCF MYC REST ZBTB25 RAD21 ZBTB7A EZH2 SMC3 ZSCAN9 HDAC2 SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10
GH20J038734 Promoter 0.8 EPDnew 500.7 +0.0 5 0.1 EP300 ZBTB26 ZNF341 EZH2 ZFHX2 EGR1 GLIS1 JUND KLF16 MAZ SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10
GH20J038722 Enhancer 0.7 FANTOM5 510.7 -1.5 -1491 0.6 HINFP MXI1 SPI1 HDAC1 ZNF335 SUZ12 GLIS1 RNF2 MAZ EZH2 SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10 ENSG00000277965
GH20J038724 Promoter 0.7 EPDnew 500.7 +0.1 113 0.1 EP300 ZNF341 EZH2 ZNF335 SUZ12 POLR2A HNRNPLL SLC32A1 lnc-SLC32A1-1 lnc-KIAA1755-10
GH20J039049 Promoter/Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas 3.2 +325.6 325641 1.4 EP300 HNRNPK CTCF SIN3A NRF1 POLR2G SP1 GTF2E2 PHF8 ZIC2 DHX35 SLC32A1 PPP1R16B HSALNG0130031 piR-45412
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SLC32A1 Gene
chr20:38,724,462-38,729,372
(GRCh38/hg38)
Size:
4,911 bases
Orientation:
Plus strand
chr20:37,353,105-37,358,015
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for SLC32A1 Gene

Proteins for SLC32A1 Gene

  • 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

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

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

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 Model Products

  • Taconic Biosciences Mouse Models for SLC32A1

CRISPR Products

miRNA for SLC32A1 Gene

miRTarBase miRNAs that target SLC32A1

Inhibitory RNA Products

  • 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 IBA 21873635
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

(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 Full agonist, Agonist, Target 369
Vigabatrin Approved Pharma Inhibition, Inhibitor, inhibitor GABA-T inhibitor 25

(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

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 :

CRISPR Products

Inhibitory RNA Products

  • 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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)
genes like me logo Genes that share expression patterns with SLC32A1: view

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 31 30
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC32A1 31 30
  • 93.59 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC32A1 31 30
  • 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 17 31 30
  • 91.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC32A1 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC32A1 31 30
  • 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 31 30
  • 81.26 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011116 30
  • 61.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta VGAT 31 30
  • 58.06 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-47 31 30
  • 48.65 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AVT1 33 31
  • 17 (a)
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 (Ashbya 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 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

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

Variants for SLC32A1 Gene

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
780606 Benign: not provided 38,728,328(+) A/G MISSENSE_VARIANT
rs34517228 - p.Ser423Gly

Additional dbSNP identifiers (rs#s) for SLC32A1 Gene

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

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

Disorders for SLC32A1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC32A1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 20
  • cmh20
amelogenesis imperfecta, type iiia
  • ai3a
hyperekplexia
  • startle disease, familial
pervasive developmental disorder
  • pervasive development disorder
schizophrenia
  • sczd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC32A1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 54
  3. 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 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  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 54

Products for SLC32A1 Gene

Sources for SLC32A1 Gene