Slc6a9 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Slc6a9provided by MGI
Official Full Name: solute carrier family 6 (neurotransmitter transporter, glycine), member 9provided by MGI
Primary source: MGI:MGI:95760
See related: Ensembl:ENSMUSG00000028542 AllianceGenome:MGI:95760
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Glyt1; Glyt-1
Summary: Enables glycine transmembrane transporter activity. Involved in glycine import across plasma membrane; neurotransmitter uptake; and positive regulation of cellular biosynthetic process. Acts upstream of or within glycine secretion, neurotransmission. Located in plasma membrane. Is expressed in several structures, including central nervous system; eye; genitourinary system; gut; and liver and biliary system. Used to study glycine encephalopathy. Orthologous to human SLC6A9 (solute carrier family 6 member 9). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in liver E14.5 (RPKM 33.4), cerebellum adult (RPKM 30.9) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D1; 4 53.62 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (117692240..117726502)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (117835258..117869305)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Oocyte-Specific Deletion of Slc6a9 Encoding the GLYT1 Glycine Transporter Eliminates Glycine Transport in Mouse Preimplantation Embryos and Their Ability to Counter Hypertonic Stress.
Title: Oocyte-Specific Deletion of Slc6a9 Encoding the GLYT1 Glycine Transporter Eliminates Glycine Transport in Mouse Preimplantation Embryos and Their Ability to Counter Hypertonic Stress.
Phosphomimetic Mutation of Glycine Transporter GlyT1 C-Terminal PDZ Binding Motif Inhibits its Interactions with PSD95.
Title: Phosphomimetic Mutation of Glycine Transporter GlyT1 C-Terminal PDZ Binding Motif Inhibits its Interactions with PSD95.
GlyT1 and not GlyT2 is essential for the replenishment of the presynaptic glycine pool in retinal AII amacrine cells and is a major determinant of the glycinergic phenotype of this cell population.
Title: GlyT1 determines the glycinergic phenotype of amacrine cells in the mouse retina.
the expression of inhibitory neurotransmitter transporters GlyT1, GAT-1, and GAT-3 in inferior colliculus and hippocampus astrocytes, was examined.
Title: Expression of functional inhibitory neurotransmitter transporters GlyT1, GAT-1, and GAT-3 by astrocytes of inferior colliculus and hippocampus.
Whole-exome sequencing revealed a novel homozygous missense variant in exon 9 of SLC6A9 NM_201649.3: c.1219 A>G (p.Ser407Gly) that segregates with the disease within the family. In murine model, knockout of Slc6a9 is associated with equivalent phenotype of non-ketotic hyperglycinemia (NKH), namely respiratory distress and hypotonia.
Title: Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
pharmacologic or genetic abolishment of GlyT1 activity in mice leads to mildly elevated glycine in the CSF but not in blood
Title: Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine.
Study demonstrated a biphasic response of GlyT1 expression during epileptogenesis with initial downregulation of GlyT1 after epileptogenesis-precipitating seizures followed by sustained pathological overexpression of GlyT1 in chronic epilepsy
Title: Glycine transporter 1 is a target for the treatment of epilepsy.
Results suggest that the excessive GAT-1 and GlyT-1/2 heterotransporter-mediated Glu release, in the spinal cord of SOD1(G93A) mice, is due to the heterotransporter over-expression at the nerve terminal membrane, promoted by the excessive Glu exocytosis
Title: Exocytosis regulates trafficking of GABA and glycine heterotransporters in spinal cord glutamatergic synapses: a mechanism for the excessive heterotransporter-induced release of glutamate in experimental amyotrophic lateral sclerosis.
the possible involvement of calmodulin or calmodulin-like interactions in the regulation of GlyT1 C-mediated transporter trafficking
Title: Calcium dependent interaction of calmodulin with the GlyT1 C-terminus.
Disruption of GlyT1 in forebrain neurons does not increase the risk of forming spurious and potentially maladaptive fear associations.
Title: Deletion of forebrain glycine transporter 1 enhances conditioned freezing to a reliable, but not an ambiguous, cue for threat in a conditioned freezing paradigm.

Submit: New GeneRIF Correction See all GeneRIFs (33)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (9) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Glyt1 (e-PCR), detects polymorphism
- UniSTS:143225

RH141917 (e-PCR)
- UniSTS:223908

Slc6a9 (e-PCR), detects polymorphism
- UniSTS:496053

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables amino acid:sodium symporter activity	IEA Inferred from Electronic Annotation more info
enables glycine transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glycine transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables glycine transmembrane transporter activity	ISO Inferred from Sequence Orthology more info
enables glycine:sodium symporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycine:sodium symporter activity	IDA Inferred from Direct Assay more info	PubMed
enables glycine:sodium symporter activity	ISO Inferred from Sequence Orthology more info
enables symporter activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within amino acid transport	IEA Inferred from Electronic Annotation more info
involved_in glycine import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in glycine import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycine import across plasma membrane	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within glycine secretion, neurotransmission	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glycine transport	IDA Inferred from Direct Assay more info	PubMed
involved_in glycine transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of negative regulation of NMDA glutamate receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter transport	IEA Inferred from Electronic Annotation more info
involved_in neurotransmitter uptake	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotransmitter uptake	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of heme biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of hemoglobin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic transmission, glycinergic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic transmission, glycinergic	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in asymmetric synapse	ISO Inferred from Sequence Orthology more info
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in dense core granule	ISO Inferred from Sequence Orthology more info
located_in endosome	ISO Inferred from Sequence Orthology more info
is_active_in hippocampal mossy fiber to CA3 synapse	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IC Inferred by Curator more info	PubMed
is_active_in parallel fiber to Purkinje cell synapse	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic density	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic membrane	ISO Inferred from Sequence Orthology more info
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: sodium- and chloride-dependent glycine transporter 1

Names: glycine transporter 1; solute carrier family 6 member 9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001355175.2 → NP_001342104.1 sodium- and chloride-dependent glycine transporter 1 isoform 2

Status: VALIDATED

Source sequence(s)

AL627128

UniProtKB/TrEMBL

E9Q3V0

Related

ENSMUSP00000127289.2, ENSMUST00000163288.2

Conserved Domains (1) summary

cd11498
Location:30 → 613

SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain
NM_001369016.1 → NP_001355945.1 sodium- and chloride-dependent glycine transporter 1 isoform 1

Status: VALIDATED

Source sequence(s)

AL627128

Consensus CDS

CCDS18538.1

UniProtKB/TrEMBL

E9Q3V0

Related

ENSMUSP00000066102.5, ENSMUST00000063857.11

Conserved Domains (1) summary

cd11498
Location:11 → 594

SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain
NM_001369017.1 → NP_001355946.1 sodium- and chloride-dependent glycine transporter 1 isoform 3

Status: VALIDATED

Source sequence(s)

AL627128

UniProtKB/TrEMBL

E9Q517

Related

ENSMUSP00000127093.2, ENSMUST00000169885.8

Conserved Domains (1) summary

cl00456
Location:1 → 529

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain
NM_008135.4 → NP_032161.2 sodium- and chloride-dependent glycine transporter 1 isoform 1

See identical proteins and their annotated locations for NP_032161.2

Status: VALIDATED

Source sequence(s)

AL627128

Consensus CDS

CCDS18538.1

UniProtKB/TrEMBL

E9Q3V0

Related

ENSMUSP00000030269.8, ENSMUST00000030269.14

Conserved Domains (1) summary

cd11498
Location:11 → 594

SLC6sbd_GlyT1; Na(+)- and Cl(-)-dependent glycine transporter GlyT1; solute-binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

117692240..117726502

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163684.1 → XP_036019577.1 sodium- and chloride-dependent glycine transporter 1 isoform X1

Conserved Domains (1) summary

cl00456
Location:1 → 323

SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain