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FLASH GENE
Symbol SLC6A9 contributors: mct/npt - updated : 02-06-2015
HGNC name solute carrier family 6 (neurotransmitter transporter, glycine), member 9
HGNC id 11056
Corresponding disease
SLC6A9D SLC6A9 deficiency
Location 1p34.1      Physical location : 44.462.155 - 44.497.134
Synonym name
  • sodium- and chloride-dependent glycine transporter 1
  • solute carrier family 6 member 9
  • Synonym symbol(s) GLYT1, DKFZp547A1118
    DNA
    TYPE functioning gene
    STRUCTURE 34.98 kb     14 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    EBNA1BP2 1p35-p33 EBNA1 binding protein 2 FLJ32000 1p34.1 hypothetical protein FLJ32000 LOC256339 1p34.1 similar to ENSANGP00000010412 MGC17299 1p34.1 hypothetical protein MGC17299 MGC52423 1p34.1 hypothetical protein MGC52423 TIE 1p34 tyrosine kinase with immunoglobulin and epidermal growth factor homology domains CDC20 9q13-q21 CDC20 cell division cycle 20 homolog (S. cerevisiae) MPL 1p34 myeloproliferative leukemia virus oncogene ELOVL1 1p34.1 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 1 MED8 1p34.1 mediator of RNA polymerase II transcription, subunit 8 homolog (yeast) LOC388625 1 similar to FLJ00408 protein HT036 1p34.1 hypothetical protein HT036 PTPRF 1p34 protein tyrosine phosphatase, receptor type, F JMJD2 1p34.1 jumonji domain containing 2 SIAT6 1p34.1 sialyltransferase 6 (N-acetyllacosaminide alpha 2,3-sialyltransferase) ARTN 1p32-p31.3 artemin IPO13 1p34.1 importin 13 DPH2L2 1p34 diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae) ATP6V0B 1p32.3 ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c'' B4GALT2 1p34-p33 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 MGC45441 1p34.1 hypothetical protein MGC45441 SLC6A9 1p33 solute carrier family 6 (neurotransmitter transporter, glycine), member 9 LOC391034 1 similar to keratin 8; cytokeratin 8; keratin, type II cytoskeletal 8 FLJ40160 1p34.1 hypothetical protein FLJ40160 LOC128208 1p34.1 similar to dJ675G8.1 (novel zinc finger protein) DMAP1 1p34 DNA methyltransferase 1 associated protein 1 PRNPIP 1p32 prion protein interacting protein FLJ10597 1p34.1 hypothetical protein FLJ10597 FLJ22353 1p34.1 hypothetical protein FLJ22353 LOC339541 1p34.1 hypothetical LOC339541 LOC256686 1p34.1 hypothetical LOC256686 KIF2C 1p32.2 kinesin family member 2C RPS8 1p32.2-p32.1 ribosomal protein S8 LOC391035 1 similar to 40S ribosomal protein S15a VMD2L2 1p33-p32.3 Homo sapiens vitelliform macular dystrophy 2-like protein 2 (VMD2L2), mRNA. CNK 1p34.1 cytokine-inducible kinase LOC343521 1p34.1 similar to hypothetical protein 4833401D15 LOC388626 1 LOC388626
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 3206 - 633 - Geerlings (2002)
    14 - 3375 - 706 - Geerlings (2002)
    13 - 3213 - 652 - Geerlings (2002)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortex   Homo sapiens
     brainlimbic systemhippocampus   Rattus norvegicus
    Reproductivefemale systemuteruscervix  
     female systembreastmammary gland  
    Visualeyeretina  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte Rattus norvegicus
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 12 transmembrane segments (12TM)
  • C-terminus, which regulates transporter trafficking and cellular surface density, and contains PDZ binding motif responsible for SLC6A9 interaction with trafficking and clustering proteins
  • conjugated GlycoP
    HOMOLOGY
    Homologene
    FAMILY
  • sodium: neurotransmitter symporter (SNF) family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic,vesicle
    text
  • being present mainly on the plasma membrane (López-Corcuera 2001)
  • with membrane rafts are co-localized in the membrane, and this influences the rate of glycine transport (Liu 2009)
  • astrocytes express functional SLC6A5, which challenge previous findings that those cells would express only SLC6A9, whereas SLC6A5 was supposed to be restricted to the glycinergic nerve terminals
  • expressed not only at the plasma membrane of glutamatergic neurons, but also at synaptic vesicles
  • is located predominantly on astrocytes
  • basic FUNCTION
  • Na+ (and Cl-) dependent plasma membrane transporter
  • plays a pivotal role in maintaining the glycine level at the glutamatergic synapse
  • may play a role in regulation of glycine levels in NMDA receptor-mediated neurotransmission
  • likely mediating glycine uptake in cortical fiber cells, but not responsible for the accumulation of glycine in the center of the lens
  • most likely mediates glycine transport at the inner blood-retinal barrier and is expected to play an important role in regulating the glycine concentration in the neural retina (Okamoto 2009)
  • regulates both glycinergic and glutamatergic neurotransmission by controlling the reuptake of glycine at synapse (Fernández-Sánchez 2009)
  • plays important role in maintaining accurate glycine concentration in local brain microenvironment
  • glycine transport by SLC6A9 is inhibited by lithium whereas SLC6A5 transport is stimulated, and this effect is more evident at increased glycine concentrations
  • essential role in glycine mediated cytoprotection in intestinal absorptive cells
  • neuronal and glial SLC6A9 may regulate cognitive functions via dissociable mechanisms
  • mainly glial glycine transporter, primarily responsible for the completion of inhibitory neurotransmission
  • SLC6A5, SLC6A9 are the transporters responsible for glycine uptake from the synaptic cleft
  • functional role of SLC6A9 in a subpopulation of glutamatergic vesicles
  • SLC6A5, SLC6A9 are responsible for the termination of glycine-mediated synaptic activity through removal of neurotransmitter from synaptic cleft
  • is essential for the clearance of glycine from the extracellular space and termination of glycinergic neurotransmission
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HMGN3
  • GSK3B is important for stabilizing and/or controlling the expression of functional SLC6A5, SLC6A9 on the neural cell surface
  • BDNF, via truncated NTRK2, modulates SLC6A9 and SLC6A5 in astrocytes
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SLC6A9D
    Susceptibility
  • to methamphetamine dependence and psychosis
  • to essential hypertension
  • Variant & Polymorphism SNP
  • increasing the risk of methamphetamine dependence and psychosis
  • association between SLC6A9 gene polymorphisms rs2286245 and essential hypertension (Ueno 2009)
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyepilepsy 
    SLC6A9 inhibitors constitute a new class of antiictogenic drugs
    ANIMAL & CELL MODELS
  • Slc6a9-null mice die several hours after birth as a result of generalized hypotonia and respiratory failure