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Protein

Sodium- and chloride-dependent glycine transporter 1

Gene

SLC6A9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

GO - Biological processi

  • glycine secretion, neurotransmission Source: Ensembl
  • transport Source: ProtInc

Keywordsi

Biological processAmino-acid transport, Neurotransmitter transport, Symport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-442660. Na+/Cl- dependent neurotransmitter transporters.

Protein family/group databases

TCDBi2.A.22.2.12. the neurotransmitter:sodium symporter (nss) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium- and chloride-dependent glycine transporter 1
Short name:
GlyT-1
Short name:
GlyT1
Alternative name(s):
Solute carrier family 6 member 9
Gene namesi
Name:SLC6A9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:11056. SLC6A9.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 108CytoplasmicSequence analysisAdd BLAST108
Transmembranei109 – 129Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei136 – 156Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei188 – 208Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini209 – 285ExtracellularSequence analysisAdd BLAST77
Transmembranei286 – 306Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei315 – 335Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei360 – 380Helical; Name=6Sequence analysisAdd BLAST21
Transmembranei407 – 427Helical; Name=7Sequence analysisAdd BLAST21
Transmembranei450 – 470Helical; Name=8Sequence analysisAdd BLAST21
Transmembranei506 – 526Helical; Name=9Sequence analysisAdd BLAST21
Transmembranei530 – 550Helical; Name=10Sequence analysisAdd BLAST21
Transmembranei570 – 590Helical; Name=11Sequence analysisAdd BLAST21
Transmembranei610 – 630Helical; Name=12Sequence analysisAdd BLAST21
Topological domaini631 – 706CytoplasmicSequence analysisAdd BLAST76

GO - Cellular componenti

  • integral component of plasma membrane Source: GO_Central
  • membrane Source: ProtInc
  • plasma membrane Source: Reactome
  • presynapse Source: GOC

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Glycine encephalopathy with normal serum glycine (GCENSG)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy.
See also OMIM:617301
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078074407S → G in GCENSG. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6536.
MIMi617301. phenotype.
OpenTargetsiENSG00000196517.
PharmGKBiPA35916.

Chemistry databases

ChEMBLiCHEMBL2337.
DrugBankiDB00145. Glycine.
GuidetoPHARMACOLOGYi935.

Polymorphism and mutation databases

BioMutaiSLC6A9.
DMDMi302393807.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002147801 – 706Sodium- and chloride-dependent glycine transporter 1Add BLAST706

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei673PhosphoserineBy similarity1
Modified residuei698PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiP48067.
PaxDbiP48067.
PeptideAtlasiP48067.
PRIDEiP48067.

PTM databases

iPTMnetiP48067.
PhosphoSitePlusiP48067.

Expressioni

Tissue specificityi

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.

Gene expression databases

BgeeiENSG00000196517.
CleanExiHS_SLC6A9.
ExpressionAtlasiP48067. baseline and differential.
GenevisibleiP48067. HS.

Organism-specific databases

HPAiHPA013977.

Interactioni

Protein-protein interaction databases

BioGridi112427. 5 interactors.
IntActiP48067. 4 interactors.
STRINGi9606.ENSP00000353791.

Chemistry databases

BindingDBiP48067.

Structurei

3D structure databases

ProteinModelPortaliP48067.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659. Eukaryota.
COG0733. LUCA.
GeneTreeiENSGT00760000118857.
HOVERGENiHBG071421.
InParanoidiP48067.
KOiK05038.
OrthoDBiEOG091G08PX.
PhylomeDBiP48067.
TreeFamiTF343812.

Family and domain databases

InterProiView protein in InterPro
IPR000175. Na/ntran_symport.
IPR003028. Na/ntran_symport_glycine_GLY1.
PANTHERiPTHR11616. PTHR11616. 1 hit.
PfamiView protein in Pfam
PF00209. SNF. 1 hit.
PRINTSiPR01204. GLY1TRNSPORT.
PR00176. NANEUSMPORT.
PROSITEiView protein in PROSITE
PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform GlyT-1C (identifier: P48067-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSGGDTRAAI ARPRMAAAHG PVAPSSPEQV TLLPVQRSFF LPPFSGATPS
60 70 80 90 100
TSLAESVLKV WHGAYNSGLL PQLMAQHSLA MAQNGAVPSE ATKRDQNLKR
110 120 130 140 150
GNWGNQIEFV LTSVGYAVGL GNVWRFPYLC YRNGGGAFMF PYFIMLIFCG
160 170 180 190 200
IPLFFMELSF GQFASQGCLG VWRISPMFKG VGYGMMVVST YIGIYYNVVI
210 220 230 240 250
CIAFYYFFSS MTHVLPWAYC NNPWNTHDCA GVLDASNLTN GSRPAALPSN
260 270 280 290 300
LSHLLNHSLQ RTSPSEEYWR LYVLKLSDDI GNFGEVRLPL LGCLGVSWLV
310 320 330 340 350
VFLCLIRGVK SSGKVVYFTA TFPYVVLTIL FVRGVTLEGA FDGIMYYLTP
360 370 380 390 400
QWDKILEAKV WGDAASQIFY SLGCAWGGLI TMASYNKFHN NCYRDSVIIS
410 420 430 440 450
ITNCATSVYA GFVIFSILGF MANHLGVDVS RVADHGPGLA FVAYPEALTL
460 470 480 490 500
LPISPLWSLL FFFMLILLGL GTQFCLLETL VTAIVDEVGN EWILQKKTYV
510 520 530 540 550
TLGVAVAGFL LGIPLTSQAG IYWLLLMDNY AASFSLVVIS CIMCVAIMYI
560 570 580 590 600
YGHRNYFQDI QMMLGFPPPL FFQICWRFVS PAIIFFILVF TVIQYQPITY
610 620 630 640 650
NHYQYPGWAV AIGFLMALSS VLCIPLYAMF RLCRTDGDTL LQRLKNATKP
660 670 680 690 700
SRDWGPALLE HRTGRYAPTI APSPEDGFEV QPLHPDKAQI PIVGSNGSSR

LQDSRI
Length:706
Mass (Da):78,260
Last modified:August 10, 2010 - v3
Checksum:i654B208568F843F4
GO
Isoform GlyT-1A (identifier: P48067-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: MSGGDTRAAI...MAQHSLAMAQ → MVGKGAKGML

Show »
Length:633
Mass (Da):70,583
Checksum:i7D72C44BC76E80EA
GO
Isoform GlyT-1B (identifier: P48067-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     29-82: Missing.

Show »
Length:652
Mass (Da):72,482
Checksum:iAA1FDD1DF09E7BCA
GO

Sequence cautioni

The sequence AAB30784 differs from that shown. Reason: Frameshift at position 8.Curated
The sequence AAB30785 differs from that shown. Reason: Frameshift at position 8.Curated
The sequence CAI19428 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAI19429 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti373G → A in AAB30784 (PubMed:8183239).Curated1
Sequence conflicti373G → A in AAB30785 (PubMed:8183239).Curated1
Sequence conflicti682P → S in AAB30784 (PubMed:8183239).Curated1
Sequence conflicti682P → S in AAB30785 (PubMed:8183239).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078074407S → G in GCENSG. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0062701 – 83MSGGD…LAMAQ → MVGKGAKGML in isoform GlyT-1A. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_00627129 – 82Missing in isoform GlyT-1B. 1 PublicationAdd BLAST54

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S70609 mRNA. Translation: AAB30784.1. Frameshift.
S70612 mRNA. Translation: AAB30785.1. Frameshift.
AL139220 Genomic DNA. Translation: CAI19428.1. Different initiation.
AL139220 Genomic DNA. Translation: CAI19429.1. Different initiation.
AL139220 Genomic DNA. Translation: CAI19430.1.
CH471059 Genomic DNA. Translation: EAX07056.1.
CH471059 Genomic DNA. Translation: EAX07057.1.
CCDSiCCDS30695.1. [P48067-2]
CCDS41316.1. [P48067-3]
CCDS41317.1. [P48067-1]
PIRiI57956.
I77912.
RefSeqiNP_001020016.1. NM_001024845.2. [P48067-2]
NP_001315558.1. NM_001328629.1. [P48067-2]
NP_008865.2. NM_006934.3. [P48067-3]
NP_964012.2. NM_201649.3. [P48067-1]
UniGeneiHs.442590.

Genome annotation databases

EnsembliENST00000357730; ENSP00000350362; ENSG00000196517. [P48067-3]
ENST00000360584; ENSP00000353791; ENSG00000196517. [P48067-1]
ENST00000372310; ENSP00000361384; ENSG00000196517. [P48067-2]
GeneIDi6536.
KEGGihsa:6536.
UCSCiuc001cll.5. human. [P48067-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiSC6A9_HUMAN
AccessioniPrimary (citable) accession number: P48067
Secondary accession number(s): A6NDH1
, A6NII2, A6NNZ8, Q5TAB8, Q5TAB9, Q5TAC0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: August 10, 2010
Last modified: May 10, 2017
This is version 146 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families