SLC32A1
Vesicular inhibitory amino acid transporter
Also known as: bA122O1.1, VGAT, VIAAT, VIAAT_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9H598
- Gene
- SLC32A1
- Ensembl
- ENSG00000101438
- Chromosome
- 20
- Canonical length
- 525 aa
- Protein class
- Metabolic proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
525 residues, UniProt reviewed canonical sequence.
>Q9H598|SLC32A1
1 MATLLRSKLS NVATSVSNKS QAKMSGMFAR MGFQAATDEE AVGFAHCDDL DFEHRQGLQM
61 DILKAEGEPC GDEGAEAPVE GDIHYQRGSG APLPPSGSKD QVGGGGEFGG HDKPKITAWE
121 AGWNVTNAIQ GMFVLGLPYA ILHGGYLGLF LIIFAAVVCC YTGKILIACL YEENEDGEVV
181 RVRDSYVAIA NACCAPRFPT LGGRVVNVAQ IIELVMTCIL YVVVSGNLMY NSFPGLPVSQ
241 KSWSIIATAV LLPCAFLKNL KAVSKFSLLC TLAHFVINIL VIAYCLSRAR DWAWEKVKFY
301 IDVKKFPISI GIIVFSYTSQ IFLPSLEGNM QQPSEFHCMM NWTHIAACVL KGLFALVAYL
361 TWADETKEVI TDNLPGSIRA VVNIFLVAKA LLSYPLPFFA AVEVLEKSLF QEGSRAFFPA
421 CYSGDGRLKS WGLTLRCALV VFTLLMAIYV PHFALLMGLT GSLTGAGLCF LLPSLFHLRL
481 LWRKLLWHQV FFDVAIFVIG GICSVSGFVH SLEGLIEAYR TNAEDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC32A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.31
- Highest tissue expression
- 44 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 44 nTPM
- hypothalamus: 16 nTPM
- cerebral cortex: 13 nTPM
- cerebellum: 7.6 nTPM
- pituitary gland: 7.2 nTPM
- amygdala: 6.1 nTPM
Single-cell type
- retinal amacrine cells: 55 nCPM
- brain inhibitory neurons: 33 nCPM
- retinal horizontal cells: 32 nCPM
- other brain neurons: 28 nCPM
- pdcs: 28 nCPM
- corticotrophs: 4.2 nCPM
Immune cell
- plasmacytoid DC: 0.2 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- hypothalamus: 99 nTPM
- basal ganglia: 98 nTPM
- medulla oblongata: 44 nTPM
- amygdala: 37 nTPM
- cerebral cortex: 35 nTPM
- pons: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC32A1.
Disease | AllUniProt
Conditions SLC32A1 is implicated in, by any mechanism.
- Generalized epilepsy with febrile seizures plus 12 (GEFSP12) MIM:620755
- Developmental and epileptic encephalopathy 114 (DEE114) MIM:620774
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 95 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Generalized epilepsy with febrile seizures plus
- Generalized epilepsy with febrile seizures plus, type 12
- Seizure
- Intellectual disability
- Developmental and epileptic encephalopathy 114
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.32
- gnomAD pLI
- 0.97
- gnomAD missense Z
- 2.3
- DepMap mean gene effect
- 0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- beta-alanine transport
- gamma-aminobutyric acid import
- gamma-aminobutyric acid transport
- glycine transport
- hippocampus development
- monoatomic ion transport
- neurotransmitter loading into synaptic vesicle
- neurotransmitter secretion
Molecular functions
- amino acid transmembrane transporter activity
- gamma-aminobutyric acid transmembrane transporter activity
- glycine transmembrane transporter activity
- gamma-aminobutyric acid:proton antiporter activity
- gamma-aminobutyric acid:proton symporter activity
- glycine:proton antiporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC32A1 as an antibody target. Whether an autoantibody or antibody against SLC32A1 could matter depends on whether native SLC32A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC32A1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label SLC32A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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