• Gene id: 388662

Gene Summary

• Gene Symbol: SLC6A17   Gene   UCSC   Ensembl
• Aliases: MRT48, NTT4
• Gene name: solute carrier family 6 member 17
• Alternate names: sodium-dependent neutral amino acid transporter SLC6A17, orphan sodium- and chloride-dependent neurotransmitter transporter NTT4,
• Gene location: 1p13.3 (110150493: 110202201)     Exons: 13     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the SLC6 family of transporters, which are responsible for the presynaptic uptake of most neurotransmitters. The encoded vesicular transporter is selective for proline, glycine, leucine and alanine. In mouse

Protein Summary

• Protein general information: Q9H1V8  
  • Name: Sodium dependent neutral amino acid transporter SLC6A17 (Sodium dependent neurotransmitter transporter NTT4) (Solute carrier family 6 member 17)
  • Length: 727  
  • Mass: 81001
• Sequence:

  MPKNSKVTQREHSSEHVTESVADLLALEEPVDYKQSVLNVAGEAGGKQKAVEEELDAEDRPAWNSKLQYILAQIG
  FSVGLGNIWRFPYLCQKNGGGAYLVPYLVLLIIIGIPLFFLELAVGQRIRRGSIGVWHYICPRLGGIGFSSCIVC
  LFVGLYYNVIIGWSIFYFFKSFQYPLPWSECPVVRNGSVAVVEAECEKSSATTYFWYREALDISDSISESGGLNW
  KMTLCLLVAWSIVGMAVVKGIQSSGKVMYFSSLFPYVVLACFLVRGLLLRGAVDGILHMFTPKLDKMLDPQVWRE
  AATQVFFALGLGFGGVIAFSSYNKQDNNCHFDAALVSFINFFTSVLATLVVFAVLGFKANIMNEKCVVENAEKIL
  GYLNTNVLSRDLIPPHVNFSHLTTKDYMEMYNVIMTVKEDQFSALGLDPCLLEDELDKSVQGTGLAFIAFTEAMT
  HFPASPFWSVMFFLMLINLGLGSMIGTMAGITTPIIDTFKVPKEMFTVGCCVFAFLVGLLFVQRSGNYFVTMFDD
  YSATLPLTLIVILENIAVAWIYGTKKFMQELTEMLGFRPYRFYFYMWKFVSPLCMAVLTTASIIQLGVTPPGYSA
  WIKEEAAERYLYFPNWAMALLITLIVVATLPIPVVFVLRHFHLLSDGSNTLSVSYKKGRMMKDISNLEENDETRF
  ILSKVPSEAPSPMPTHRSYLGPGSTSPLETSGNPNGRYGSGYLLASTPESEL

• Structural information:
  • Interpro: IPR000175  IPR002438  IPR037272  
  • Prosite: PS00610 PS00754 PS50267
  • STRING: ENSP00000330199
• Other Databases: GeneCards:  SLC6A17  Malacards:  SLC6A17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0015824	proline transport	IBA	biological process
GO:0032328	alanine transport	IBA	biological process
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0015816	glycine transport	IBA	biological process
GO:0015820	leucine transport	IBA	biological process
GO:0015820	leucine transport	ISS	biological process
GO:0015816	glycine transport	ISS	biological process
GO:0015804	neutral amino acid transport	ISS	biological process
GO:0008021	synaptic vesicle	ISS	cellular component
GO:0007420	brain development	ISS	biological process
GO:0032328	alanine transport	ISS	biological process
GO:0015824	proline transport	ISS	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0006836	neurotransmitter transport	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015293	symporter activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0030285	integral component of synaptic vesicle membrane	IEA	cellular component
GO:0015820	leucine transport	IEA	biological process
GO:0015816	glycine transport	IEA	biological process
GO:0015804	neutral amino acid transport	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0032328	alanine transport	IEA	biological process
GO:0015824	proline transport	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0098794	postsynapse	IEA	cellular component
GO:0030672	synaptic vesicle membrane	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray