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

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; AllianceGenome:HGNC:11018
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; DEE114; GEFSP12; VIAAT GEFSP12
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: mouse all
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Genomic context

Location:: 20q11.23

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (38724486..38729372)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (40454638..40459524)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (37353129..37358015)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Title: Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
Data indicate that GABAergic axons were labeled with vesicular inhibitory aa transporter (VIAAT) antibodies, whereas glutamatergic axons were detected with antisera against the major vesicular glutamate transporter (VGLUT) isoforms, VGLUT1 and VGLUT2.
Title: Glutamatergic and GABAergic innervation of human gonadotropin-releasing hormone-I neurons.
We examined the ratio of excitatory to inhibitory vesicular neurotransmitter transporter mRNAs (VGluT1 to VGAT) and their ratio in the dorsolateral prefrontal cortex during normal human development and in people with schizophrenia
Title: Expression of VGluT1 and VGAT mRNAs in human dorsolateral prefrontal cortex during development and in schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetical genomic determinants of alcohol consumption in rats and humans.
Subjects with schizophrenia exhibited expression deficits in GABA transpter 1.
Title: Alterations in GABA-related transcriptome in the dorsolateral prefrontal cortex of subjects with schizophrenia.
VIATT has been identified in horizontal cells of the adult outer retina in culture, either at their terminals or throughout the entire cell.
Title: Cellular localization of the vesicular inhibitory amino acid transporter in the mouse and human retina.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy 114 MedGen: C5935598 OMIM: 620774 GeneReviews: Not available	not available
Generalized epilepsy with febrile seizures plus, type 12 MedGen: C5935592 OMIM: 620755 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-16167 (e-PCR)
- UniSTS:34823

AL030975 (e-PCR)
- UniSTS:69550

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables amino acid transmembrane transporter activity	TAS Traceable Author Statement more info
enables gamma-aminobutyric acid transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables gamma-aminobutyric acid:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables gamma-aminobutyric acid:proton symporter activity	TAS Traceable Author Statement more info
enables glycine transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycine transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables glycine:proton antiporter activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in amino acid transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in beta-alanine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid import	ISS Inferred from Sequence or Structural Similarity more info
involved_in gamma-aminobutyric acid transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gamma-aminobutyric acid transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycine transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycine transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	TAS Traceable Author Statement more info
involved_in neurotransmitter loading into synaptic vesicle	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotransmitter secretion	TAS Traceable Author Statement more info
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in GABA-ergic synapse	IEA Inferred from Electronic Annotation more info
located_in cell surface	IEA Inferred from Electronic Annotation more info
located_in cell tip	IEA Inferred from Electronic Annotation more info
located_in clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS Traceable Author Statement more info
located_in cone cell pedicle	IEA Inferred from Electronic Annotation more info
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
is_active_in dendrite terminus	IBA Inferred from Biological aspect of Ancestor more info
located_in inhibitory synapse	IEA Inferred from Electronic Annotation more info
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection terminus	IBA Inferred from Biological aspect of Ancestor more info
located_in neuron projection terminus	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in presynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info
located_in synaptic vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in synaptic vesicle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic vesicle membrane	TAS Traceable Author Statement more info

General protein information

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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)

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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.