• Gene id: 6533

Gene Summary

• Gene Symbol: SLC6A6   Gene   UCSC   Ensembl
• Aliases: TAUT
• Gene name: solute carrier family 6 member 6
• Alternate names: sodium- and chloride-dependent taurine transporter, solute carrier family 6 (neurotransmitter transporter, taurine), member 6,
• Gene location: 3p25.1 (229923233: 229763836)     Exons: 50     NC_000002.12
• Gene summary(Entrez): 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 spli
• OMIM: 186854

Protein Summary

• Protein general information: P31641  
  • Name: Sodium and chloride dependent taurine transporter (Solute carrier family 6 member 6)
  • Length: 620  
  • Mass: 69830
  • Tissue specificity: Expressed abundantly in placenta and skeletal muscle, at intermediate levels in heart, brain, lung, kidney and pancreas and at low levels in liver. {ECO
• Sequence:

  MATKEKLQCLKDFHKDILKPSPGKSPGTRPEDEAEGKPPQREKWSSKIDFVLSVAGGFVGLGNVWRFPYLCYKNG
  GGAFLIPYFIFLFGSGLPVFFLEIIIGQYTSEGGITCWEKICPLFSGIGYASVVIVSLLNVYYIVILAWATYYLF
  QSFQKELPWAHCNHSWNTPHCMEDTMRKNKSVWITISSTNFTSPVIEFWERNVLSLSPGIDHPGSLKWDLALCLL
  LVWLVCFFCIWKGVRSTGKVVYFTATFPFAMLLVLLVRGLTLPGAGAGIKFYLYPDITRLEDPQVWIDAGTQIFF
  SYAICLGAMTSLGSYNKYKYNSYRDCMLLGCLNSGTSFVSGFAIFSILGFMAQEQGVDIADVAESGPGLAFIAYP
  KAVTMMPLPTFWSILFFIMLLLLGLDSQFVEVEGQITSLVDLYPSFLRKGYRREIFIAFVCSISYLLGLTMVTEG
  GMYVFQLFDYYAASGVCLLWVAFFECFVIAWIYGGDNLYDGIEDMIGYRPGPWMKYSWAVITPVLCVGCFIFSLV
  KYVPLTYNKTYVYPNWAIGLGWSLALSSMLCVPLVIVIRLCQTEGPFLVRVKYLLTPREPNRWAVEREGATPYNS
  RTVMNGALVKPTHIIVETMM

• Structural information:
  • Interpro: IPR000175  IPR002434  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • CDD: cd11510
  • STRING: ENSP00000480890
• Other Databases: GeneCards:  SLC6A6  Malacards:  SLC6A6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015185	gamma-aminobutyric acid transmembrane transporter activity	ISS	molecular function
GO:0098739	import across plasma membrane	ISS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0098797	plasma membrane protein complex	ISS	is active in
GO:0051939	gamma-aminobutyric acid import	ISS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0043005	neuron projection	IBA	cellular component
GO:0042165	neurotransmitter binding	IBA	molecular function
GO:0015734	taurine transport	IBA	biological process
GO:0005332	gamma-aminobutyric acid:sodium symporter activity	IBA	molecular function
GO:0005368	taurine transmembrane transporter activity	IDA	molecular function
GO:0015734	taurine transport	IDA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005369	taurine:sodium symporter activity	IEA	molecular function
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005369	taurine:sodium symporter activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0015171	amino acid transmembrane transporter activity	TAS	molecular function
GO:0006865	amino acid transport	TAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0015734	taurine transport	TAS	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Multiple system atrophy	PMID:24304186
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881