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UniProtKB - Q9Y345 (SC6A5_HUMAN)

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Protein

Sodium- and chloride-dependent glycine transporter 2

Gene

SLC6A5

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

Functioni

Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals. May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses.3 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi206Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi208Sodium 2; via carbonyl oxygenBy similarity1
Metal bindingi209Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi213Sodium 2By similarity1
Metal bindingi477Sodium 2By similarity1
Metal bindingi509Sodium 2By similarity1
Metal bindingi574Sodium 1; via carbonyl oxygenBy similarity1
Metal bindingi577Sodium 1By similarity1

GO - Molecular functioni

  • glycine:sodium symporter activity Source: FlyBase
  • metal ion binding Source: UniProtKB-KW
View the complete GO annotation on QuickGO ...

GO - Biological processi

  • chemical synaptic transmission Source: ProtInc
  • glycine import across plasma membrane Source: FlyBase
  • synaptic transmission, glycinergic Source: FlyBase
View the complete GO annotation on QuickGO ...

Keywordsi

Biological processNeurotransmitter transport, Symport, Transport
LigandMetal-binding, Sodium

Enzyme and pathway databases

ReactomeiR-HSA-442660 Na+/Cl- dependent neurotransmitter transporters
R-HSA-5619089 Defective SLC6A5 causes hyperekplexia 3 (HKPX3)

Protein family/group databases

TCDBi2.A.22.2.10 the neurotransmitter:sodium symporter (nss) family

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium- and chloride-dependent glycine transporter 2
Short name:
GlyT-2
Short name:
GlyT2
Alternative name(s):
Solute carrier family 6 member 5
Gene namesi
Name:SLC6A5
Synonyms:GLYT2, NET1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000165970.11
HGNCiHGNC:11051 SLC6A5
MIMi604159 gene
neXtProtiNX_Q9Y345

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 199CytoplasmicSequence analysisAdd BLAST199
Transmembranei200 – 220Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei228 – 247Helical; Name=2Sequence analysisAdd BLAST20
Transmembranei271 – 291Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini292 – 393ExtracellularSequence analysisAdd BLAST102
Transmembranei394 – 412Helical; Name=4Sequence analysisAdd BLAST19
Transmembranei421 – 438Helical; Name=5Sequence analysisAdd BLAST18
Transmembranei474 – 491Helical; Name=6Sequence analysisAdd BLAST18
Transmembranei503 – 524Helical; Name=7Sequence analysisAdd BLAST22
Transmembranei557 – 576Helical; Name=8Sequence analysisAdd BLAST20
Transmembranei604 – 622Helical; Name=9Sequence analysisAdd BLAST19
Transmembranei638 – 658Helical; Name=10Sequence analysisAdd BLAST21
Transmembranei679 – 698Helical; Name=11Sequence analysisAdd BLAST20
Transmembranei717 – 735Helical; Name=12Sequence analysisAdd BLAST19
Topological domaini736 – 797CytoplasmicSequence analysisAdd BLAST62

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperekplexia 3 (HKPX3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.
See also OMIM:614618
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_044168306L → V in HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro. 1 PublicationCorresponds to variant dbSNP:rs121908496EnsemblClinVar.1
Natural variantiVAR_044169425T → M in HKPX3; no effect on subcellular location; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs121908498EnsemblClinVar.1
Natural variantiVAR_044171482W → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication1
Natural variantiVAR_044172491Y → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs121908494EnsemblClinVar.1
Natural variantiVAR_044174509N → S in HKPX3; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs121908497EnsemblClinVar.1
Natural variantiVAR_044175510S → R in HKPX3; results in the formation of large aggregates in the cytoplasm; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs281864926EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9152
GeneReviewsiSLC6A5
MalaCardsiSLC6A5
MIMi614618 phenotype
OpenTargetsiENSG00000165970
Orphaneti3197 Hereditary hyperekplexia
PharmGKBiPA35911

Chemistry databases

ChEMBLiCHEMBL3060
DrugBankiDB00145 Glycine
GuidetoPHARMACOLOGYi936

Polymorphism and mutation databases

BioMutaiSLC6A5
DMDMi296452967

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002147621 – 797Sodium- and chloride-dependent glycine transporter 2Add BLAST797

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei56PhosphoserineBy similarity1
Modified residuei57PhosphothreonineBy similarity1
Modified residuei84PhosphoserineBy similarity1
Disulfide bondi311 ↔ 320By similarity
Glycosylationi343N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi353N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi358N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi364N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9Y345
PeptideAtlasiQ9Y345
PRIDEiQ9Y345
ProteomicsDBi85975

PTM databases

iPTMnetiQ9Y345
PhosphoSitePlusiQ9Y345

Expressioni

Tissue specificityi

Expressed in medulla, and to a lesser extent in spinal cord and cerebellum.

Gene expression databases

BgeeiENSG00000165970
CleanExiHS_NET1
HS_SLC6A5
ExpressionAtlasiQ9Y345 baseline and differential
GenevisibleiQ9Y345 HS

Interactioni

Protein-protein interaction databases

BioGridi114599, 13 interactors
STRINGi9606.ENSP00000434364

Chemistry databases

BindingDBiQ9Y345

Structurei

3D structure databases

ProteinModelPortaliQ9Y345
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sodium:neurotransmitter symporter (SNF) (TC 2.A.22) family. SLC6A5 subfamily. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00760000118857
HOGENOMiHOG000116406
HOVERGENiHBG071421
InParanoidiQ9Y345
KOiK05038
OMAiVIWIPIM
OrthoDBiEOG091G08PX
PhylomeDBiQ9Y345
TreeFamiTF343812

Family and domain databases

InterProiView protein in InterPro
IPR000175 Na/ntran_symport
IPR037272 SNS_sf
PANTHERiPTHR11616 PTHR11616, 1 hit
PfamiView protein in Pfam
PF00209 SNF, 1 hit
PRINTSiPR00176 NANEUSMPORT
SUPFAMiSSF161070 SSF161070, 2 hits
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

Sequencei

Sequence statusi: Complete.

Q9Y345-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDCSAPKEMN KLPANSPEAA AAQGHPDGPC APRTSPEQEL PAAAAPPPPR 
        60         70         80         90        100
VPRSASTGAQ TFQSADARAC EAERPGVGSC KLSSPRAQAA SAALRDLREA 
       110        120        130        140        150
QGAQASPPPG SSGPGNALHC KIPFLRGPEG DANVSVGKGT LERNNTPVVG 
       160        170        180        190        200
WVNMSQSTVV LATDGITSVL PGSVATVATQ EDEQGDENKA RGNWSSKLDF 
       210        220        230        240        250
ILSMVGYAVG LGNVWRFPYL AFQNGGGAFL IPYLMMLALA GLPIFFLEVS 
       260        270        280        290        300
LGQFASQGPV SVWKAIPALQ GCGIAMLIIS VLIAIYYNVI ICYTLFYLFA 
       310        320        330        340        350
SFVSVLPWGS CNNPWNTPEC KDKTKLLLDS CVISDHPKIQ IKNSTFCMTA 
       360        370        380        390        400
YPNVTMVNFT SQANKTFVSG SEEYFKYFVL KISAGIEYPG EIRWPLALCL 
       410        420        430        440        450
FLAWVIVYAS LAKGIKTSGK VVYFTATFPY VVLVILLIRG VTLPGAGAGI 
       460        470        480        490        500
WYFITPKWEK LTDATVWKDA ATQIFFSLSA AWGGLITLSS YNKFHNNCYR 
       510        520        530        540        550
DTLIVTCTNS ATSIFAGFVI FSVIGFMANE RKVNIENVAD QGPGIAFVVY 
       560        570        580        590        600
PEALTRLPLS PFWAIIFFLM LLTLGLDTMF ATIETIVTSI SDEFPKYLRT 
       610        620        630        640        650
HKPVFTLGCC ICFFIMGFPM ITQGGIYMFQ LVDTYAASYA LVIIAIFELV 
       660        670        680        690        700
GISYVYGLQR FCEDIEMMIG FQPNIFWKVC WAFVTPTILT FILCFSFYQW 
       710        720        730        740        750
EPMTYGSYRY PNWSMVLGWL MLACSVIWIP IMFVIKMHLA PGRFIERLKL 
       760        770        780        790 
VCSPQPDWGP FLAQHRGERY KNMIDPLGTS SLGLKLPVKD LELGTQC
Length:797
Mass (Da):87,434
Last modified:May 18, 2010 - v3
Checksum:i47D8A9B179896CE0
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti24G → S in AAD27892 (PubMed:10381548).Curated1
Sequence conflicti155S → G in AAD27892 (PubMed:10381548).Curated1
Sequence conflicti188N → D in AAD27892 (PubMed:10381548).Curated1
Sequence conflicti362Q → L in AAD27892 (PubMed:10381548).Curated1
Sequence conflicti582T → S in AAD27892 (PubMed:10381548).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04416389A → E No effect on subcellular location; no effect on glycine transport. 1 PublicationCorresponds to variant dbSNP:rs61736602EnsemblClinVar.1
Natural variantiVAR_044164102G → S1 PublicationCorresponds to variant dbSNP:rs1443547EnsemblClinVar.1
Natural variantiVAR_044165124F → S5 PublicationsCorresponds to variant dbSNP:rs1443548EnsemblClinVar.1
Natural variantiVAR_044166132A → G. Corresponds to variant dbSNP:rs34243519EnsemblClinVar.1
Natural variantiVAR_044167162A → G5 PublicationsCorresponds to variant dbSNP:rs1443549Ensembl.1
Natural variantiVAR_011591184Q → R1 Publication1
Natural variantiVAR_044168306L → V in HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro. 1 PublicationCorresponds to variant dbSNP:rs121908496EnsemblClinVar.1
Natural variantiVAR_044169425T → M in HKPX3; no effect on subcellular location; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs121908498EnsemblClinVar.1
Natural variantiVAR_044170457K → N. Corresponds to variant dbSNP:rs3740870EnsemblClinVar.1
Natural variantiVAR_011592463D → N1 PublicationCorresponds to variant dbSNP:rs1805091EnsemblClinVar.1
Natural variantiVAR_044171482W → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication1
Natural variantiVAR_044172491Y → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs121908494EnsemblClinVar.1
Natural variantiVAR_044173499Y → F. Corresponds to variant dbSNP:rs7944684EnsemblClinVar.1
Natural variantiVAR_044174509N → S in HKPX3; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs121908497EnsemblClinVar.1
Natural variantiVAR_044175510S → R in HKPX3; results in the formation of large aggregates in the cytoplasm; impairs glycine transport. 1 PublicationCorresponds to variant dbSNP:rs281864926EnsemblClinVar.1
Natural variantiVAR_036160632V → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_011593751V → A1 Publication1
Natural variantiVAR_044176767G → R. Corresponds to variant dbSNP:rs16906628EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF085412 mRNA Translation: AAC95145.1
AF142501 mRNA Translation: AAD27892.1
AF352733 mRNA Translation: AAK29670.1
AF117999 mRNA Translation: AAK12641.1
AC090707 Genomic DNA No translation available.
BC096319 mRNA Translation: AAH96319.1
CCDSiCCDS7854.1
RefSeqiNP_001305298.1, NM_001318369.1
NP_004202.3, NM_004211.4
UniGeneiHs.136557

Genome annotation databases

EnsembliENST00000525748; ENSP00000434364; ENSG00000165970
GeneIDi9152
KEGGihsa:9152
UCSCiuc001mqd.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSC6A5_HUMAN
AccessioniPrimary (citable) accession number: Q9Y345
Secondary accession number(s): O95288, Q4VAM7, Q9BX77
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 158 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 11
    Human chromosome 11: 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

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