SLC6A6
Sodium- and chloride-dependent taurine transporter
Also known as: SC6A6_HUMAN, TAUT
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P31641
- Gene
- SLC6A6
- Ensembl
- ENSG00000131389
- Chromosome
- 3
- Canonical length
- 620 aa
- Protein class
- Disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Cell Junctions,Cytosol
OverviewNCBI Gene
This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseudogene for this gene on chromosome 21. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Canonical amino-acid sequenceUniProt
620 residues, UniProt reviewed canonical sequence.
>P31641|SLC6A6
1 MATKEKLQCL KDFHKDILKP SPGKSPGTRP EDEAEGKPPQ REKWSSKIDF VLSVAGGFVG
61 LGNVWRFPYL CYKNGGGAFL IPYFIFLFGS GLPVFFLEII IGQYTSEGGI TCWEKICPLF
121 SGIGYASVVI VSLLNVYYIV ILAWATYYLF QSFQKELPWA HCNHSWNTPH CMEDTMRKNK
181 SVWITISSTN FTSPVIEFWE RNVLSLSPGI DHPGSLKWDL ALCLLLVWLV CFFCIWKGVR
241 STGKVVYFTA TFPFAMLLVL LVRGLTLPGA GAGIKFYLYP DITRLEDPQV WIDAGTQIFF
301 SYAICLGAMT SLGSYNKYKY NSYRDCMLLG CLNSGTSFVS GFAIFSILGF MAQEQGVDIA
361 DVAESGPGLA FIAYPKAVTM MPLPTFWSIL FFIMLLLLGL DSQFVEVEGQ ITSLVDLYPS
421 FLRKGYRREI FIAFVCSISY LLGLTMVTEG GMYVFQLFDY YAASGVCLLW VAFFECFVIA
481 WIYGGDNLYD GIEDMIGYRP GPWMKYSWAV ITPVLCVGCF IFSLVKYVPL TYNKTYVYPN
541 WAIGLGWSLA LSSMLCVPLV IVIRLCQTEG PFLVRVKYLL TPREPNRWAV EREGATPYNS
601 RTVMNGALVK PTHIIVETMMLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC6A6 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)
- 0.23
- Highest tissue expression
- 134 nTPM
Expression across tissuesHPA
Tissue
- retina: 134 nTPM
- bone marrow: 60 nTPM
- ovary: 32 nTPM
- skeletal muscle: 30 nTPM
- heart muscle: 26 nTPM
- adrenal gland: 26 nTPM
Single-cell type
- rod photoreceptor cells: 1,194 nCPM
- cone photoreceptor cells: 1,099 nCPM
- neutrophils: 1,044 nCPM
- endometrial glandular cells: 344 nCPM
- conjunctival goblet cells: 338 nCPM
- retinal pigment epithelial cells: 290 nCPM
Immune cell
- neutrophil: 57 nTPM
- non-classical monocyte: 11 nTPM
- T-reg: 8.7 nTPM
- classical monocyte: 8.2 nTPM
- eosinophil: 8 nTPM
- intermediate monocyte: 6.5 nTPM
Brain region
- thalamus: 46 nTPM
- medulla oblongata: 40 nTPM
- midbrain: 33 nTPM
- basal ganglia: 32 nTPM
- cerebral cortex: 32 nTPM
- pons: 31 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC6A6.
Disease | AllUniProt
Conditions SLC6A6 is implicated in, by any mechanism.
- Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) MIM:145350
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 98 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Retinal degeneration
- Hypotaurinemic retinal degeneration and cardiomyopathy
- Retinal dystrophy
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)
- 0.29
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 3.39
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- alanine transport
- amino acid import across plasma membrane
- amino acid transport
- gamma-aminobutyric acid import
- import across plasma membrane
- modulation of chemical synaptic transmission
- neurotransmitter transport
- positive regulation of cell differentiation
- sodium ion transmembrane transport
- taurine transmembrane transport
- transport across blood-brain barrier
Molecular functions
- alanine transmembrane transporter activity
- amino acid transmembrane transporter activity
- amino acid:sodium symporter activity
- gamma-aminobutyric acid transmembrane transporter activity
- gamma-aminobutyric acid:sodium:chloride symporter activity
- taurine 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, taurine
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC6A6 as an antibody target. Whether an autoantibody or antibody against SLC6A6 could matter depends on whether native SLC6A6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC6A6 is annotated at the cell surface, where native SLC6A6 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 SLC6A6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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