Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	140679
Gene name	Solute carrier family 32 member 1
Gene symbol	SLC32A1
Synonyms (NCBI Gene)	DEE114GEFSP12VGATVIAATVIAAT GEFSP12
Chromosome	20
Chromosome location	20q11.23
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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019437	hsa-miR-148b-3p	Microarray	17612493
MIRT1359901	hsa-miR-138	CLIP-seq
MIRT1359902	hsa-miR-1587	CLIP-seq
MIRT1359903	hsa-miR-1908	CLIP-seq
MIRT1359904	hsa-miR-3180	CLIP-seq
MIRT1359905	hsa-miR-3180-3p	CLIP-seq
MIRT1359906	hsa-miR-3196	CLIP-seq
MIRT1359907	hsa-miR-339-5p	CLIP-seq
MIRT1359908	hsa-miR-378g	CLIP-seq
MIRT1359909	hsa-miR-4447	CLIP-seq
MIRT1359910	hsa-miR-4456	CLIP-seq
MIRT1359911	hsa-miR-4472	CLIP-seq
MIRT1359912	hsa-miR-4488	CLIP-seq
MIRT1359913	hsa-miR-4492	CLIP-seq
MIRT1359914	hsa-miR-4498	CLIP-seq
MIRT1359915	hsa-miR-4656	CLIP-seq
MIRT1359916	hsa-miR-4675	CLIP-seq
MIRT1359917	hsa-miR-4697-5p	CLIP-seq
MIRT1359918	hsa-miR-4741	CLIP-seq
MIRT1359919	hsa-miR-4762-3p	CLIP-seq
MIRT1359920	hsa-miR-520g	CLIP-seq
MIRT1359921	hsa-miR-520h	CLIP-seq
MIRT1359922	hsa-miR-541	CLIP-seq
MIRT1359923	hsa-miR-654-5p	CLIP-seq
MIRT1359924	hsa-miR-663	CLIP-seq
MIRT1359925	hsa-miR-762	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001762	Process	Beta-alanine transport	IEA
GO:0001762	Process	Beta-alanine transport	ISS
GO:0003333	Process	Amino acid transmembrane transport	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0007269	Process	Neurotransmitter secretion	TAS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	ISS
GO:0009986	Component	Cell surface	IEA
GO:0015171	Function	Amino acid transmembrane transporter activity	TAS
GO:0015185	Function	Gamma-aminobutyric acid transmembrane transporter activity	IEA
GO:0015185	Function	Gamma-aminobutyric acid transmembrane transporter activity	ISS
GO:0015187	Function	Glycine transmembrane transporter activity	IBA
GO:0015187	Function	Glycine transmembrane transporter activity	IEA
GO:0015187	Function	Glycine transmembrane transporter activity	ISS
GO:0015495	Function	Gamma-aminobutyric acid:proton symporter activity	TAS
GO:0015812	Process	Gamma-aminobutyric acid transport	IBA
GO:0015812	Process	Gamma-aminobutyric acid transport	IEA
GO:0015812	Process	Gamma-aminobutyric acid transport	ISS
GO:0015816	Process	Glycine transport	IBA
GO:0015816	Process	Glycine transport	IEA
GO:0015816	Process	Glycine transport	IEA
GO:0015816	Process	Glycine transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0030425	Component	Dendrite	IDA	12115694
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	12115694
GO:0043005	Component	Neuron projection	IEA
GO:0044292	Component	Dendrite terminus	IBA
GO:0044292	Component	Dendrite terminus	IEA
GO:0044306	Component	Neuron projection terminus	IBA
GO:0044306	Component	Neuron projection terminus	IDA	12115694
GO:0044306	Component	Neuron projection terminus	IEA
GO:0044316	Component	Cone cell pedicle	IEA
GO:0045202	Component	Synapse	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0051286	Component	Cell tip	IEA
GO:0051939	Process	Gamma-aminobutyric acid import	IEA
GO:0051939	Process	Gamma-aminobutyric acid import	ISS
GO:0060077	Component	Inhibitory synapse	IEA
GO:0061202	Component	Clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IBA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098793	Component	Presynapse	ISS
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0140799	Function	Glycine:proton antiporter activity	IEA
GO:0140799	Function	Glycine:proton antiporter activity	ISS
GO:0140800	Function	Gamma-aminobutyric acid:proton antiporter activity	IEA
GO:0140800	Function	Gamma-aminobutyric acid:proton antiporter activity	ISS
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
616440	11018	ENSG00000101438

Q9H598

Protein name

Vesicular inhibitory amino acid transporter (GABA and glycine transporter) (Solute carrier family 32 member 1) (Vesicular GABA transporter) (hVIAAT)

Protein function

Antiporter that exchanges vesicular protons for cytosolic 4-aminobutanoate or to a lesser extend glycine, thus allowing their secretion from nerve terminals. The transport is equally dependent on the chemical and electrical components of the pro

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01490	Aa_trans	114 → 513	Transmembrane amino acid transporter protein	Family

Tissue specificity

TISSUE SPECIFICITY: Retina. Expressed throughout the horizontal cells or more specifically at the terminals. {ECO:0000269|PubMed:12115694}.

Sequence

MATLLRSKLSNVATSVSNKSQAKMSGMFARMGFQAATDEEAVGFAHCDDLDFEHRQGLQM
DILKAEGEPCGDEGAEAPVEGDIHYQRGSGAPLPPSGSKDQVGGGGEFGGHDKPKITAWE
AGWNVTNAIQGMFVLGLPYAILHGGYLGLFLIIFAAVVCCYTGKILIACLYEENEDGEVV
RVRDSYVAIANACCAPRFPTLGGRVVNVAQIIELVMTCILYVVVSGNLMYNSFPGLPVSQ
KSWSIIATAVLLPCAFLKNLKAVSKFSLLCTLAHFVINILVIAYCLSRARDWAWEKVKFY
IDVKKFPISIGIIVFSYTSQIFLPSLEGNMQQPSEFHCMMNWTHIAACVLKGLFALVAYL
TWADETKEVITDNLPGSIRAVVNIFLVAKALLSYPLPFFAAVEVLEKSLFQEGSRAFFPA
CYSGDGRLKSWGLTLRCALVVFTLLMAIYVPHFALLMGLTGSLTGAGLCFLLPSLFHLRL
LWRKLLWHQVFFDVAIFVIGGICSVSGFVHSLEGLIEAYRTNAED

Sequence length

525

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Synaptic vesicle cycle	Transport of inorganic cations/anions and amino acids/oligopeptides
Retrograde endocannabinoid signaling	GABA synthesis, release, reuptake and degradation
GABAergic synapse
Morphine addiction
Nicotine addiction

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy 114	Likely pathogenic; Pathogenic	rs2145650130, rs2145650002	RCV003989131 RCV003989157	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus	Likely pathogenic; Pathogenic	rs2084284179, rs2084286998	RCV001260921 RCV001260920	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Generalized epilepsy with febrile seizures plus, type 12	Likely pathogenic; Pathogenic	rs2084284179, rs2084286998	RCV003985020 RCV003985019	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs2145650002, rs2145650130	RCV001800257 RCV001800258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs2145650002, rs2145650130	RCV001800257 RCV001800258	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (12)
ANOREXIA NERVOSA	—	GWAS catalog	33686288, 36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	36073542	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	34038384,36073542	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED SEIZURES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized-onset seizure	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC EPILEPSY WITH FEBRILE SEIZURE PLUS	—	Orphanet	34038384	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild global developmental delay	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	36137488	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	36137488	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	38839884	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	28991256, 31740837, 33686288, 35396580, 36137488, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (22)
Alzheimer Disease	Alzheimer disease	Pubtator	39650656	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	28129110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28129110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31133774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	BEFREE	25027639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	28885452		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	29343737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17711980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	34038384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Epilepsy With Febrile Seizures Plus Type 1	Generalized epilepsy with febrile seizures plus	Pubtator	34038384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33059718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21723258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30066910	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21723258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	17471287		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	21145444, 21396926		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	34174930	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tauopathies	Tauopathies	BEFREE	28129110		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	33445520	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	25027639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28669028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	33059718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GABRA5	2	["Developmental and epileptic encephalopathy","Seizures"]	4	["Retrograde endocannabinoid signaling","GABAergic synapse","Morphine addiction","Nicotine addiction"]	5	["Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)"]
KCNB1	3	["Anorexia nervosa","Developmental and epileptic encephalopathy","Obsessive-compulsive disorder"]	0	[]	7	["GWAS catalog (Anorexia nervosa)","Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","GWAS catalog (Obsessive-compulsive disorder)"]
ACTR5	3	["Anorexia nervosa","Obsessive-compulsive disorder","Willis-ekbom disease"]	0	[]	3	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Willis-ekbom disease)"]
GABRG2	3	["Developmental and epileptic encephalopathy","Generalized epilepsy with febrile seizures plus","Seizures"]	4	["Retrograde endocannabinoid signaling","GABAergic synapse","Morphine addiction","Nicotine addiction"]	7	["Orphanet (Developmental and epileptic encephalopathy)","Disgenet (Developmental and epileptic encephalopathy)","HPO (Developmental and epileptic encephalopathy)","ClinVar (Developmental and epileptic encephalopathy)","GWAS catalog (Developmental and epileptic encephalopathy)","Disgenet (Generalized epilepsy with febrile seizures plus)","Orphanet (Generalized epilepsy with febrile seizures plus)"]
GABRD	2	["Developmental and epileptic encephalopathy","Generalized epilepsy with febrile seizures plus"]	4	["Retrograde endocannabinoid signaling","GABAergic synapse","Morphine addiction","Nicotine addiction"]	3	["Disgenet (Developmental and epileptic encephalopathy)","Disgenet (Generalized epilepsy with febrile seizures plus)","Orphanet (Generalized epilepsy with febrile seizures plus)"]

SLC32A1 (solute carrier family 32 member 1)

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