SLC6A6
entrez
6533
canonical
uniprot
P31641
canonical
ensembl
ENSG00000131389
resolver
ensp
ENSP00000480890
resolver
ensp
ENSP00000481625
resolver
ensp
ENSP00000482560
resolver
ensp
ENSP00000593386
resolver
enst
ENST00000613060
resolver
genesymbol
SLC6A6
resolver
hgnc
HGNC:11052
resolver
uniprot
A0A087WY96
resolver
uniprot
B2RNU7
resolver
uniprot
B4E140
resolver
uniprot
Q59GD7
resolver
uniprot
Q9BRI2
resolver
uniprot
Q9BXB0
resolver
uniprot_entry
A0A087WY96_HUMAN
resolver
uniprot_entry
B4E140_HUMAN
resolver
uniprot_entry
Q59GD7_HUMAN
resolver
uniprot_entry
SC6A6_HUMAN
resolver
uniprot_sec
B2RNU7
resolver
uniprot_sec
Q9BRI2
resolver
uniprot_sec
Q9BXB0
resolver
activity_regulation
ACTIVITY REGULATION: Taurine transport activity is stimulated by thyrotropin (PubMed:8382624). Taurine transport activity is inhibited by GABA, hypotaurine and beta-alanine (PubMed:39837997, PubMed:40108165, PubMed:8010975, PubMed:8654117). GABA transport activity is inhibited by taurine and beta-alanine (By similarity). Taurine transport activity is inhibited by L-alanine, guanidinoethane sulfonate (GES), piperidine-4-sulfonic acid, imidazole-4-acetatic acid, 5-aminovaleric acid, nipecotic acid, homotaurine and phorbol 12-myristate 13-acetate (PubMed:40789850, PubMed:41269860). Taurine transport activity is stimulated by hypertonic stress (By similarity). {ECO:0000250|UniProtKB:P31643, ECO:0000250|UniProtKB:Q9MZ34, ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0000269|PubMed:8010975, ECO:0000269|PubMed:8382624, ECO:0000269|PubMed:8654117}.
uniprot
proteins
amino_acid_sequence
MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNGGGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLFQSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLLLVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFFSYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYPKAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEGGMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLVKYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNSRTVMNGALVKPTHIIVETMM
uniprot
proteins
disease_involvement
DISEASE: Hypotaurinemic retinal degeneration and cardiomyopathy (HTRDC) [MIM:145350]: An autosomal recessive disorder characterized by low plasma taurine, childhood-onset progressive retinal degeneration, and cardiomyopathy. {ECO:0000269|PubMed:31345061, ECO:0000269|PubMed:31903486}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Mediates sodium- and chloride-dependent transport of taurine, a key amino acid (PubMed:31345061, PubMed:31903486, PubMed:39837997, PubMed:40108165, PubMed:40108449, PubMed:40615403, PubMed:40789850, PubMed:41269860, PubMed:41652173, PubMed:8010975, PubMed:8382624, PubMed:8654117). Taurine acts as an anti-aging agent by reducing cellular senescence and combating oxidative stress: levels decline with age and supplementation has been shown to extend lifespan (By similarity). In addition to mediate extracellular taurine uptake, also able to mediate transport of taurine into mitochondria, sustaining mitochondrial translation (PubMed:41652173). Can also mediate transport of beta-alanine, hypotaurine and gamma-aminobutyric acid (GABA) (PubMed:39837997, PubMed:40108165, PubMed:40789850, PubMed:41269860, PubMed:8010975). {ECO:0000250|UniProtKB:O35316, ECO:0000269|PubMed:31345061, ECO:0000269|PubMed:31903486, ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0000269|PubMed:41652173, ECO:0000269|PubMed:8010975, ECO:0000269|PubMed:8382624, ECO:0000269|PubMed:8654117}.
uniprot
proteins
mass_dalton
69830
uniprot
proteins
mutagenesis
MUTAGEN 1..41; /note="MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQR->MATAEALQCLADFAADILAPSPGASPGTAPEDEAEGAPPQA: Abolished localization to mitochondria."; /evidence="ECO:0000269|PubMed:41652173"; MUTAGEN 21..25; /note="SPGKS->APGKA: Abolished phosphorylation by PKA, leading to decreased localization to the plasma membrane and increased mitochondrial localization."; /evidence="ECO:0000269|PubMed:41652173"; MUTAGEN 57; /note="G->Y: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850"; MUTAGEN 58; /note="F->A: Reduced taurine transport. Increased gamma-aminobutyric acid (GABA) transport."; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40789850"; MUTAGEN 60; /note="G->E,A,T: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:40615403"; MUTAGEN 62; /note="G->A: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40615403"; MUTAGEN 63; /note="N->A: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40789850"; MUTAGEN 138; /note="Y->A,F: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:41269860"; MUTAGEN 262; /note="V->A: Decreased but not abolished taurine transport."; /evidence="ECO:0000269|PubMed:40615403"; MUTAGEN 262; /note="V->R,E: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:40615403"; MUTAGEN 265; /note="L->A: Decreased but not abolished taurine transport."; /evidence="ECO:0000269|PubMed:40615403"; MUTAGEN 265; /note="L->R,E: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:40615403"; MUTAGEN 300; /note="F->A: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860"; MUTAGEN 301; /note="S->A: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860"; MUTAGEN 308; /note="A->S: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:39837997"; MUTAGEN 333; /note="N->A: Reducer taurine transport."; /evidence="ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40789850"; MUTAGEN 337; /note="S->A: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:40108165"; MUTAGEN 401; /note="D->A: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:40789850"; MUTAGEN 402; /note="S->A: Abolished taurine transport."; /evidence="ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860"; MUTAGEN 405; /note="V->C: Reduced taurine transport; on its own and when associated with T-406. Increased gamma-aminobutyric acid (GABA) transport."; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40615403"; MUTAGEN 406; /note="E->A,D: Reduced taurine transport."; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860"; MUTAGEN 406; /note="E->C,T: Reduced taurine transport and increased gamma-aminobutyric acid (GABA) transport."; /evidence="ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850"; MUTAGEN 406; /note="E->T: Reduces taurine transport; on its own and when associated with C-405."; /evidence="ECO:0000269|PubMed:39837997"; MUTAGEN 464; /note="Missing: Increased taurine transport."; /evidence="ECO:0000269|PubMed:40108449
uniprot
proteins
post_translational_modification
PTM: Phosphorylation at Ser-21 and Ser-25 by PKA promotes localization at the plasma while inhibiting mitochondrial localization (PubMed:41652173). Taurine transport activity is down-regulated upon Ser-322 phosphorylation (By similarity). {ECO:0000250|UniProtKB:Q00589, ECO:0000269|PubMed:41652173}.
uniprot
proteins
protein_family
SLC6A6 subfamily
uniprot
proteins
protein_family
Sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
19349973
uniprot
proteins
pubmed
31345061
uniprot
proteins
pubmed
31903486
uniprot
proteins
pubmed
39837997
uniprot
proteins
pubmed
40108165
uniprot
proteins
pubmed
40108449
uniprot
proteins
pubmed
40601627
uniprot
proteins
pubmed
40615403
uniprot
proteins
pubmed
40789850
uniprot
proteins
pubmed
41269860
uniprot
proteins
pubmed
41652173
uniprot
proteins
pubmed
8010975
uniprot
proteins
pubmed
8382624
uniprot
proteins
pubmed
8654117
uniprot
proteins
sequence_length
620
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:31345061, ECO:0000269|PubMed:31903486}; Multi-pass membrane protein {ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165}. Mitochondrion inner membrane {ECO:0000305|PubMed:41652173}; Multi-pass membrane protein {ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165}. Note=Phosphorylation at Ser-21 and Ser-25 by PKA promotes localization at the plasma while inhibiting mitochondrial localization. {ECO:0000269|PubMed:41652173}.
uniprot
proteins
transmembrane_region
TRANSMEM 50..70; /note="Helical; Name=1"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 79..102; /note="Helical; Name=2"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 128..150; /note="Helical; Name=3"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 216..236; /note="Helical; Name=4"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 245..265; /note="Helical; Name=5"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 290..310; /note="Helical; Name=6"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 337..352; /note="Helical; Name=7"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 380..400; /note="Helical; Name=8"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 430..458; /note="Helical; Name=9"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 465..482; /note="Helical; Name=10"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 506..525; /note="Helical; Name=11"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN"; TRANSMEM 545..563; /note="Helical; Name=12"; /evidence="ECO:0000269|PubMed:39837997, ECO:0000269|PubMed:40108165, ECO:0000269|PubMed:40108449, ECO:0000269|PubMed:40601627, ECO:0000269|PubMed:40615403, ECO:0000269|PubMed:40789850, ECO:0000269|PubMed:41269860, ECO:0007744|PDB:9J7M, ECO:0007744|PDB:9J7N, ECO:0007744|PDB:9J7O, ECO:0007744|PDB:9JCV, ECO:0007744|PDB:9JCZ, ECO:0007744|PDB:9JD5, ECO:0007744|PDB:9JD6, ECO:0007744|PDB:9JLN
uniprot
proteins