Human Gene SLC6A9 (ENST00000372310.8_11) from GENCODE V47lift37
  Description: solute carrier family 6 member 9, transcript variant 3 (from RefSeq NM_001024845.3)
Gencode Transcript: ENST00000372310.8_11
Gencode Gene: ENSG00000196517.13_15
Transcript (Including UTRs)
   Position: hg19 chr1:44,462,155-44,497,134 Size: 34,980 Total Exon Count: 14 Strand: -
Coding Region
   Position: hg19 chr1:44,463,217-44,489,949 Size: 26,733 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:44,462,155-44,497,134)mRNA (may differ from genome)Protein (633 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SC6A9_HUMAN
DESCRIPTION: RecName: Full=Sodium- and chloride-dependent glycine transporter 1; Short=GlyT-1; Short=GlyT1; AltName: Full=Solute carrier family 6 member 9;
FUNCTION: Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
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.
SIMILARITY: Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A9 subfamily.
SEQUENCE CAUTION: Sequence=AAB30784.1; Type=Frameshift; Positions=8; Sequence=AAB30785.1; Type=Frameshift; Positions=8; Sequence=CAI19428.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI19429.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC6A9
Diseases sorted by gene-association score: glycine encephalopathy with normal serum glycine* (1580), infantile glycine encephalopathy* (350), glycine encephalopathy (22), hyperekplexia (4), schizophrenia (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D001564 Benzo(a)pyrene
  • D013749 Tetrachlorodibenzodioxin
  • C037689 benzamide
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • D015655 1-Methyl-4-phenylpyridinium
  • C404910 2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C028451 3,4,3',4'-tetrachlorobiphenyl
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 22.14 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 204.69 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -104.50242-0.432 Picture PostScript Text
3' UTR -429.501062-0.404 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000175 - Na/ntran_symport
IPR003028 - Na/ntran_symport_glycine_GLY1

Pfam Domains:
PF00209 - Sodium:neurotransmitter symporter family

SCOP Domains:
161070 - SNF-like

ModBase Predicted Comparative 3D Structure on P48067
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005215 transporter activity
GO:0005283 sodium:amino acid symporter activity
GO:0005328 neurotransmitter:sodium symporter activity
GO:0015187 glycine transmembrane transporter activity
GO:0015293 symporter activity
GO:0015375 glycine:sodium symporter activity

Biological Process:
GO:0003333 amino acid transmembrane transport
GO:0006836 neurotransmitter transport
GO:0006865 amino acid transport
GO:0015816 glycine transport
GO:0055085 transmembrane transport
GO:0061537 glycine secretion, neurotransmission
GO:1903825 organic acid transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  AK295659 - Homo sapiens cDNA FLJ50533 complete cds, highly similar to Sodium-and chloride-dependent glycine transporter 1.
S70609 - glycine transporter type 1b [human, substantia nigra, mRNA, 2364 nt].
S70612 - glycine transporter type 1c {alternatively spliced} [human, substantia nigra, mRNA, 2202 nt].
AK304057 - Homo sapiens cDNA FLJ59814 complete cds, highly similar to Sodium-and chloride-dependent glycine transporter 1.
AK296438 - Homo sapiens cDNA FLJ56886 complete cds, highly similar to Sodium-and chloride-dependent glycine transporter 1.
AK298611 - Homo sapiens cDNA FLJ50609 complete cds, highly similar to Sodium-and chloride-dependent glycine transporter 1.
BC156979 - Synthetic construct Homo sapiens clone IMAGE:100062833, MGC:190627 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9) mRNA, encodes complete protein.
AK315233 - Homo sapiens cDNA, FLJ96233.
AK315933 - Homo sapiens cDNA, FLJ78832 complete cds, highly similar to Sodium- and chloride-dependent glycine transporter 1.
AK311136 - Homo sapiens cDNA, FLJ18178.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P48067 (Reactome details) participates in the following event(s):

R-HSA-444120 SLC6A5,9 cotransport Gly, Cl-, Na+ from extracellular region to cytosol
R-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425428 Amine compound SLC transporters
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A6NDH1, A6NII2, A6NNZ8, ENST00000372310.1, ENST00000372310.2, ENST00000372310.3, ENST00000372310.4, ENST00000372310.5, ENST00000372310.6, ENST00000372310.7, NM_001024845, P48067, Q5TAB8, Q5TAB9, Q5TAC0, SC6A9_HUMAN, uc318juv.1, uc318juv.2
UCSC ID: ENST00000372310.8_11
RefSeq Accession: NM_001024845.3
Protein: P48067 (aka SC6A9_HUMAN or S6A9_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC6A9:
glyt1-dis (GLYT1 Encephalopathy)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.