SLC6A11
Sodium- and chloride-dependent GABA transporter 3
Also known as: GAT3, S6A11_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P48066
- Gene
- SLC6A11
- Ensembl
- ENSG00000132164
- Chromosome
- 3
- Canonical length
- 632 aa
- Protein class
- Metabolic proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Vesicles
OverviewNCBI Gene
The protein encoded by this gene is a sodium-dependent transporter that uptakes gamma-aminobutyric acid (GABA), an inhibitory neurotransmitter, which ends the GABA neurotransmission. Defects in this gene may result in epilepsy, behavioral problems, or intellectual problems. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Canonical amino-acid sequenceUniProt
632 residues, UniProt reviewed canonical sequence.
>P48066|SLC6A11
1 MTAEKALPLG NGKAAEEARE SEAPGGGCSS GGAAPARHPR VKRDKAVHER GHWNNKVEFV
61 LSVAGEIIGL GNVWRFPYLC YKNGGGAFLI PYVVFFICCG IPVFFLETAL GQFTSEGGIT
121 CWRKVCPLFE GIGYATQVIE AHLNVYYIII LAWAIFYLSN CFTTELPWAT CGHEWNTENC
181 VEFQKLNVSN YSHVSLQNAT SPVMEFWEHR VLAISDGIEH IGNLRWELAL CLLAAWTICY
241 FCIWKGTKST GKVVYVTATF PYIMLLILLI RGVTLPGASE GIKFYLYPDL SRLSDPQVWV
301 DAGTQIFFSY AICLGCLTAL GSYNNYNNNC YRDCIMLCCL NSGTSFVAGF AIFSVLGFMA
361 YEQGVPIAEV AESGPGLAFI AYPKAVTMMP LSPLWATLFF MMLIFLGLDS QFVCVESLVT
421 AVVDMYPKVF RRGYRRELLI LALSVISYFL GLVMLTEGGM YIFQLFDSYA ASGMCLLFVA
481 IFECICIGWV YGSNRFYDNI EDMIGYRPPS LIKWCWMIMT PGICAGIFIF FLIKYKPLKY
541 NNIYTYPAWG YGIGWLMALS SMLCIPLWIC ITVWKTEGTL PEKLQKLTTP STDLKMRGKL
601 GVSPRMVTVN DCDAKLKSDG TIAAITEKET HFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC6A11 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 78 nTPM
Expression across tissuesHPA
Tissue
- midbrain: 78 nTPM
- hypothalamus: 48 nTPM
- basal ganglia: 27 nTPM
- cerebral cortex: 24 nTPM
- amygdala: 16 nTPM
- retina: 10 nTPM
Single-cell type
- astrocytes: 300 nCPM
- retinal amacrine cells: 121 nCPM
- müller glia: 53 nCPM
- brain inhibitory neurons: 53 nCPM
- extravillous trophoblasts: 44 nCPM
- peritubular myoid cells: 44 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 314 nTPM
- midbrain: 254 nTPM
- hypothalamus: 189 nTPM
- basal ganglia: 148 nTPM
- pons: 116 nTPM
- medulla oblongata: 110 nTPM
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)
- 0.64
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.56
- DepMap mean gene effect
- 0.06
- 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
- amino acid transport
- gamma-aminobutyric acid reuptake
- monocarboxylic acid transport
- response to xenobiotic stimulus
- sodium ion transmembrane transport
Molecular functions
- amino acid binding
- gamma-aminobutyric acid:sodium:chloride symporter activity
- monocarboxylic acid transmembrane transporter activity
- taurine:sodium symporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Sodium:neurotransmitter symporter
- Sodium:neurotransmitter symporter superfamily
- Sodium:neurotransmitter symporter family
- Sodium:neurotransmitter symporter, GABA, GAT-3
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC6A11 as an antibody target. Whether an autoantibody or antibody against SLC6A11 could matter depends on whether native SLC6A11 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC6A11 is annotated at the cell surface, where native SLC6A11 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC6A11 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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