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Q9Y345

- SC6A5_HUMAN

UniProt

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: 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 be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses.

GO - Molecular functioni

  1. glycine:sodium symporter activity Source: FlyBase
  2. neurotransmitter:sodium symporter activity Source: InterPro

GO - Biological processi

  1. glycine import Source: FlyBase
  2. synaptic transmission Source: ProtInc
  3. synaptic transmission, glycinergic Source: FlyBase
  4. transmembrane transport Source: Reactome
  5. transport Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Neurotransmitter transport, Symport, Transport

Enzyme and pathway databases

ReactomeiREACT_20506. Na+/Cl- dependent neurotransmitter transporters.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:11051. SLC6A5.

Subcellular locationi

GO - Cellular componenti

  1. integral component of membrane Source: ProtInc
  2. plasma membrane Source: FlyBase
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperekplexia 3 (HKPX3) [MIM:614618]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti306 – 3061L → V in HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro. 1 Publication
VAR_044168
Natural varianti425 – 4251T → M in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044169
Natural varianti482 – 4821W → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044171
Natural varianti491 – 4911Y → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044172
Natural varianti509 – 5091N → S in HKPX3; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044174
Natural varianti510 – 5101S → R in HKPX3; results in the formation of large aggregates in the cytoplasm; impairs glycine transport. 1 Publication
VAR_044175

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi614618. phenotype.
Orphaneti3197. Hereditary hyperekplexia.
PharmGKBiPA35911.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 797797Sodium- and chloride-dependent glycine transporter 2PRO_0000214762Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi343 – 3431N-linked (GlcNAc...)Sequence Analysis
Glycosylationi353 – 3531N-linked (GlcNAc...)Sequence Analysis
Glycosylationi358 – 3581N-linked (GlcNAc...)Sequence Analysis
Glycosylationi364 – 3641N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9Y345.
PRIDEiQ9Y345.

PTM databases

PhosphoSiteiQ9Y345.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ9Y345.
CleanExiHS_NET1.
HS_SLC6A5.
ExpressionAtlasiQ9Y345. baseline.
GenevestigatoriQ9Y345.

Organism-specific databases

HPAiHPA039476.

Interactioni

Protein-protein interaction databases

BioGridi114599. 3 interactions.
STRINGi9606.ENSP00000298923.

Structurei

3D structure databases

ProteinModelPortaliQ9Y345.
SMRiQ9Y345. Positions 191-757.
ModBaseiSearch...
MobiDBiSearch...

Topological domain

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 199199CytoplasmicSequence AnalysisAdd
BLAST
Topological domaini292 – 393102ExtracellularSequence AnalysisAdd
BLAST
Topological domaini736 – 79762CytoplasmicSequence AnalysisAdd
BLAST

Transmembrane

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei200 – 22021Helical; Name=1Sequence AnalysisAdd
BLAST
Transmembranei228 – 24720Helical; Name=2Sequence AnalysisAdd
BLAST
Transmembranei271 – 29121Helical; Name=3Sequence AnalysisAdd
BLAST
Transmembranei394 – 41219Helical; Name=4Sequence AnalysisAdd
BLAST
Transmembranei421 – 43818Helical; Name=5Sequence AnalysisAdd
BLAST
Transmembranei474 – 49118Helical; Name=6Sequence AnalysisAdd
BLAST
Transmembranei503 – 52422Helical; Name=7Sequence AnalysisAdd
BLAST
Transmembranei557 – 57620Helical; Name=8Sequence AnalysisAdd
BLAST
Transmembranei604 – 62219Helical; Name=9Sequence AnalysisAdd
BLAST
Transmembranei638 – 65821Helical; Name=10Sequence AnalysisAdd
BLAST
Transmembranei679 – 69820Helical; Name=11Sequence AnalysisAdd
BLAST
Transmembranei717 – 73519Helical; Name=12Sequence AnalysisAdd
BLAST

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0733.
GeneTreeiENSGT00760000118857.
HOGENOMiHOG000116406.
HOVERGENiHBG071421.
InParanoidiQ9Y345.
KOiK05038.
OMAiGNALHCK.
OrthoDBiEOG793B71.
PhylomeDBiQ9Y345.
TreeFamiTF343812.

Family and domain databases

InterProiIPR000175. Na/ntran_symport.
[Graphical view]
PANTHERiPTHR11616. PTHR11616. 1 hit.
PfamiPF00209. SNF. 1 hit.
[Graphical view]
PRINTSiPR00176. NANEUSMPORT.
PROSITEiPS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9Y345 [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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti24 – 241G → S in AAD27892. (PubMed:10381548)Curated
Sequence conflicti155 – 1551S → G in AAD27892. (PubMed:10381548)Curated
Sequence conflicti188 – 1881N → D in AAD27892. (PubMed:10381548)Curated
Sequence conflicti362 – 3621Q → L in AAD27892. (PubMed:10381548)Curated
Sequence conflicti582 – 5821T → S in AAD27892. (PubMed:10381548)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891A → E No effect on subcellular location; no effect on glycine transport. 1 Publication
Corresponds to variant rs61736602 [ dbSNP | Ensembl ].
VAR_044163
Natural varianti102 – 1021G → S.1 Publication
Corresponds to variant rs1443547 [ dbSNP | Ensembl ].
VAR_044164
Natural varianti124 – 1241F → S.5 Publications
Corresponds to variant rs1443548 [ dbSNP | Ensembl ].
VAR_044165
Natural varianti132 – 1321A → G.
Corresponds to variant rs34243519 [ dbSNP | Ensembl ].
VAR_044166
Natural varianti162 – 1621A → G.5 Publications
Corresponds to variant rs1443549 [ dbSNP | Ensembl ].
VAR_044167
Natural varianti184 – 1841Q → R.1 Publication
VAR_011591
Natural varianti306 – 3061L → V in HKPX3; compound heterozygote with S-509; impairment of glycine transport when coexpressed with S-509 in vitro. 1 Publication
VAR_044168
Natural varianti425 – 4251T → M in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044169
Natural varianti457 – 4571K → N.
Corresponds to variant rs3740870 [ dbSNP | Ensembl ].
VAR_044170
Natural varianti463 – 4631D → N.1 Publication
Corresponds to variant rs1805091 [ dbSNP | Ensembl ].
VAR_011592
Natural varianti482 – 4821W → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044171
Natural varianti491 – 4911Y → C in HKPX3; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044172
Natural varianti499 – 4991Y → F.
Corresponds to variant rs7944684 [ dbSNP | Ensembl ].
VAR_044173
Natural varianti509 – 5091N → S in HKPX3; compound heterozygote with V-306; no effect on subcellular location; impairs glycine transport. 1 Publication
VAR_044174
Natural varianti510 – 5101S → R in HKPX3; results in the formation of large aggregates in the cytoplasm; impairs glycine transport. 1 Publication
VAR_044175
Natural varianti632 – 6321V → E in a breast cancer sample; somatic mutation. 1 Publication
VAR_036160
Natural varianti751 – 7511V → A.1 Publication
VAR_011593
Natural varianti767 – 7671G → R.
Corresponds to variant rs16906628 [ dbSNP | Ensembl ].
VAR_044176

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_004202.2. NM_004211.3.
UniGeneiHs.136557.

Genome annotation databases

EnsembliENST00000525748; ENSP00000434364; ENSG00000165970.
GeneIDi9152.
KEGGihsa:9152.
UCSCiuc001mqd.3. human.

Polymorphism databases

DMDMi296452967.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7854.1.
RefSeqi NP_004202.2. NM_004211.3.
UniGenei Hs.136557.

3D structure databases

ProteinModelPortali Q9Y345.
SMRi Q9Y345. Positions 191-757.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114599. 3 interactions.
STRINGi 9606.ENSP00000298923.

Chemistry

BindingDBi Q9Y345.
ChEMBLi CHEMBL3060.
DrugBanki DB00145. Glycine.
GuidetoPHARMACOLOGYi 936.

Protein family/group databases

TCDBi 2.A.22.2.10. the neurotransmitter:sodium symporter (nss) family.

PTM databases

PhosphoSitei Q9Y345.

Polymorphism databases

DMDMi 296452967.

Proteomic databases

PaxDbi Q9Y345.
PRIDEi Q9Y345.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000525748 ; ENSP00000434364 ; ENSG00000165970 .
GeneIDi 9152.
KEGGi hsa:9152.
UCSCi uc001mqd.3. human.

Organism-specific databases

CTDi 9152.
GeneCardsi GC11P020620.
GeneReviewsi SLC6A5.
H-InvDB HIX0035860.
HGNCi HGNC:11051. SLC6A5.
HPAi HPA039476.
MIMi 604159. gene.
614618. phenotype.
neXtProti NX_Q9Y345.
Orphaneti 3197. Hereditary hyperekplexia.
PharmGKBi PA35911.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0733.
GeneTreei ENSGT00760000118857.
HOGENOMi HOG000116406.
HOVERGENi HBG071421.
InParanoidi Q9Y345.
KOi K05038.
OMAi GNALHCK.
OrthoDBi EOG793B71.
PhylomeDBi Q9Y345.
TreeFami TF343812.

Enzyme and pathway databases

Reactomei REACT_20506. Na+/Cl- dependent neurotransmitter transporters.

Miscellaneous databases

GeneWikii Glycine_transporter_2.
GenomeRNAii 9152.
NextBioi 34335.
PROi Q9Y345.
SOURCEi Search...

Gene expression databases

Bgeei Q9Y345.
CleanExi HS_NET1.
HS_SLC6A5.
ExpressionAtlasi Q9Y345. baseline.
Genevestigatori Q9Y345.

Family and domain databases

InterProi IPR000175. Na/ntran_symport.
[Graphical view ]
PANTHERi PTHR11616. PTHR11616. 1 hit.
Pfami PF00209. SNF. 1 hit.
[Graphical view ]
PRINTSi PR00176. NANEUSMPORT.
PROSITEi PS00610. NA_NEUROTRAN_SYMP_1. 1 hit.
PS00754. NA_NEUROTRAN_SYMP_2. 1 hit.
PS50267. NA_NEUROTRAN_SYMP_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and functional expression of the human glycine transporter GlyT2 and chromosomal localisation of the gene in the human genome."
    Morrow J.A., Collie I.T., Dunbar D.R., Walker G.B., Shahid M., Hill D.R.
    FEBS Lett. 439:334-340(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-124 AND GLY-162.
  2. "Characterization of multiple forms of the human glycine transporter type-2."
    Gallagher M.J., Burgess L.H., Brunden K.R.
    Brain Res. Mol. Brain Res. 70:101-115(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-102; SER-124 AND GLY-162.
    Tissue: Spinal cord.
  3. "Cloning, functional characterisation and population analysis of a variant form of the human glycine type 2 transporter."
    Evans J., Herdon H., Cairns W., O'Brien E., Chapman C., Terrett J., Gloger I.
    FEBS Lett. 463:301-306(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-124; GLY-162; ARG-184; ASN-463 AND ALA-751.
    Tissue: Spinal cord.
  4. "Cloning and expression of a human glycine transporter type II."
    Luyten W.
    Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-124 AND GLY-162.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-124 AND GLY-162.
  7. Cited for: VARIANTS HKPX3 VAL-306; MET-425; CYS-482; CYS-491; SER-509 AND ARG-510, VARIANT GLU-89, CHARACTERIZATION OF VARIANTS HKPX3 VAL-306; MET-425; CYS-482; CYS-491; SER-509 AND ARG-510, CHARACTERIZATION OF VARIANT GLU-89.
  8. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-632.

Entry informationi

Entry nameiSC6A5_HUMAN
AccessioniPrimary (citable) accession number: Q9Y345
Secondary accession number(s): O95288, Q4VAM7, Q9BX77
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 128 of the entry and version 3 of the sequence. [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

External Data

Dasty 3