SLC6A9
Sodium- and chloride-dependent glycine transporter 1
Also known as: GlyT-1, GLYT1, SC6A9_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P48067
- Gene
- SLC6A9
- Ensembl
- ENSG00000196517
- Chromosome
- 1
- Canonical length
- 706 aa
- Protein class
- Disease related genes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoplasm,Golgi apparatus
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
706 residues, UniProt reviewed canonical sequence.
>P48067|SLC6A9
1 MSGGDTRAAI ARPRMAAAHG PVAPSSPEQV TLLPVQRSFF LPPFSGATPS TSLAESVLKV
61 WHGAYNSGLL PQLMAQHSLA MAQNGAVPSE ATKRDQNLKR GNWGNQIEFV LTSVGYAVGL
121 GNVWRFPYLC YRNGGGAFMF PYFIMLIFCG IPLFFMELSF GQFASQGCLG VWRISPMFKG
181 VGYGMMVVST YIGIYYNVVI CIAFYYFFSS MTHVLPWAYC NNPWNTHDCA GVLDASNLTN
241 GSRPAALPSN LSHLLNHSLQ RTSPSEEYWR LYVLKLSDDI GNFGEVRLPL LGCLGVSWLV
301 VFLCLIRGVK SSGKVVYFTA TFPYVVLTIL FVRGVTLEGA FDGIMYYLTP QWDKILEAKV
361 WGDAASQIFY SLGCAWGGLI TMASYNKFHN NCYRDSVIIS ITNCATSVYA GFVIFSILGF
421 MANHLGVDVS RVADHGPGLA FVAYPEALTL LPISPLWSLL FFFMLILLGL GTQFCLLETL
481 VTAIVDEVGN EWILQKKTYV TLGVAVAGFL LGIPLTSQAG IYWLLLMDNY AASFSLVVIS
541 CIMCVAIMYI YGHRNYFQDI QMMLGFPPPL FFQICWRFVS PAIIFFILVF TVIQYQPITY
601 NHYQYPGWAV AIGFLMALSS VLCIPLYAMF RLCRTDGDTL LQRLKNATKP SRDWGPALLE
661 HRTGRYAPTI APSPEDGFEV QPLHPDKAQI PIVGSNGSSR LQDSRILocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC6A9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 12
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 77 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 77 nTPM
- skin: 43 nTPM
- midbrain: 34 nTPM
- adrenal gland: 29 nTPM
- vagina: 23 nTPM
- esophagus: 22 nTPM
Single-cell type
- epicardial cells: 96 nCPM
- adrenal cortex cells: 53 nCPM
- retinal pigment epithelial cells: 51 nCPM
- suprabasal keratinocytes: 36 nCPM
- cone photoreceptor cells: 35 nCPM
- retinal bipolar cells: 35 nCPM
Immune cell
- naive CD4 T-cell: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
Brain region
- white matter: 148 nTPM
- medulla oblongata: 139 nTPM
- cerebellum: 111 nTPM
- pons: 100 nTPM
- spinal cord: 96 nTPM
- thalamus: 95 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC6A9.
Disease | AllUniProt
Conditions SLC6A9 is implicated in, by any mechanism.
- Glycine encephalopathy with normal serum glycine (GCENSG) MIM:617301
Disease | GeneticClinVar
14 pathogenic / likely-pathogenic of 382 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Atypical glycine encephalopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.63
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.98
- DepMap mean gene effect
- -0.24
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- glycine import across plasma membrane
- glycine transport
- neurotransmitter uptake
- positive regulation of heme biosynthetic process
- positive regulation of hemoglobin biosynthetic process
- sodium ion transmembrane transport
- transport across blood-brain barrier
- glycine secretion, neurotransmission
- regulation of synaptic transmission, glycinergic
Molecular functions
- amino acid:sodium symporter activity
- glycine transmembrane transporter activity
- glycine:sodium symporter activity
Cellular components
- apical plasma membrane
- basal plasma membrane
- basolateral plasma membrane
- dense core granule
- endosome
- hippocampal mossy fiber to CA3 synapse
- lateral plasma membrane
- membrane
- parallel fiber to Purkinje cell synapse
- plasma membrane
- postsynaptic density
- postsynaptic membrane
- presynaptic membrane
- synaptic vesicle membrane
Protein domainsUniProt · Pfam · InterPro
- Sodium:neurotransmitter symporter
- Sodium:neurotransmitter symporter superfamily
- Sodium:neurotransmitter symporter family
- Sodium:neurotransmitter symporter, glycine, type 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC6A9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC6A9 as an antibody target. Whether an autoantibody or antibody against SLC6A9 could matter depends on whether native SLC6A9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC6A9 is annotated at the cell surface, where native SLC6A9 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC6A9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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