• Gene id: 6536

Gene Summary

• Gene Symbol: SLC6A9   Gene   UCSC   Ensembl
• Aliases: GCENSG, GLYT1
• Gene name: solute carrier family 6 member 9
• Alternate names: sodium- and chloride-dependent glycine transporter 1, glyT-1, solute carrier family 6 (neurotransmitter transporter, glycine), member 9,
• Gene location: 1p34.1 (44031461: 43996482)     Exons: 18     NC_000001.11
• Gene summary(Entrez): The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]

Protein Summary

• Protein general information: P48067  
  • Name: Sodium and chloride dependent glycine transporter 1 (GlyT 1) (GlyT1) (Solute carrier family 6 member 9)
  • Length: 706  
  • Mass: 78260
  • Tissue specificity: Isoform GlyT-1A and isoform GlyT-1B can be found in brain, kidney, pancreas, lung, placenta and liver but isoform GlyT-1C is only found in brain.
• Sequence:

  MSGGDTRAAIARPRMAAAHGPVAPSSPEQVTLLPVQRSFFLPPFSGATPSTSLAESVLKVWHGAYNSGLLPQLMA
  QHSLAMAQNGAVPSEATKRDQNLKRGNWGNQIEFVLTSVGYAVGLGNVWRFPYLCYRNGGGAFMFPYFIMLIFCG
  IPLFFMELSFGQFASQGCLGVWRISPMFKGVGYGMMVVSTYIGIYYNVVICIAFYYFFSSMTHVLPWAYCNNPWN
  THDCAGVLDASNLTNGSRPAALPSNLSHLLNHSLQRTSPSEEYWRLYVLKLSDDIGNFGEVRLPLLGCLGVSWLV
  VFLCLIRGVKSSGKVVYFTATFPYVVLTILFVRGVTLEGAFDGIMYYLTPQWDKILEAKVWGDAASQIFYSLGCA
  WGGLITMASYNKFHNNCYRDSVIISITNCATSVYAGFVIFSILGFMANHLGVDVSRVADHGPGLAFVAYPEALTL
  LPISPLWSLLFFFMLILLGLGTQFCLLETLVTAIVDEVGNEWILQKKTYVTLGVAVAGFLLGIPLTSQAGIYWLL
  LMDNYAASFSLVVISCIMCVAIMYIYGHRNYFQDIQMMLGFPPPLFFQICWRFVSPAIIFFILVFTVIQYQPITY
  NHYQYPGWAVAIGFLMALSSVLCIPLYAMFRLCRTDGDTLLQRLKNATKPSRDWGPALLEHRTGRYAPTIAPSPE
  DGFEVQPLHPDKAQIPIVGSNGSSRLQDSRI

• Structural information:
  • Interpro: IPR000175  IPR003028  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000353791
• Other Databases: GeneCards:  SLC6A9  Malacards:  SLC6A9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005283	amino acid: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:0006865	amino acid transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0015375	glycine:sodium symporter activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0016020	membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0061537	glycine secretion, neurotransmission	IEA	biological process
GO:0015816	glycine transport	IEA	biological process
GO:0099055	integral component of postsynaptic membrane	IEA	cellular component
GO:0098688	parallel fiber to Purkinje cell synapse	IEA	cellular component
GO:0032279	asymmetric synapse	IEA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0015187	glycine transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0001504	neurotransmitter uptake	IEA	biological process
GO:0099056	integral component of presynaptic membrane	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:1903825	organic acid transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0003333	amino acid transmembrane transport	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Glycine encephalopathy with normal serum glycine	KEGG:H02419
Glycine encephalopathy with normal serum glycine	KEGG:H02419
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq