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Q9Y345

- SC6A5_HUMAN

UniProt

Q9Y345 - SC6A5_HUMAN

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
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    • History
      Entry version 127 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ9Y345.
    BgeeiQ9Y345.
    CleanExiHS_NET1.
    HS_SLC6A5.
    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.
    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.

    Q9Y345-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDCSAPKEMN KLPANSPEAA AAQGHPDGPC APRTSPEQEL PAAAAPPPPR    50
    VPRSASTGAQ TFQSADARAC EAERPGVGSC KLSSPRAQAA SAALRDLREA 100
    QGAQASPPPG SSGPGNALHC KIPFLRGPEG DANVSVGKGT LERNNTPVVG 150
    WVNMSQSTVV LATDGITSVL PGSVATVATQ EDEQGDENKA RGNWSSKLDF 200
    ILSMVGYAVG LGNVWRFPYL AFQNGGGAFL IPYLMMLALA GLPIFFLEVS 250
    LGQFASQGPV SVWKAIPALQ GCGIAMLIIS VLIAIYYNVI ICYTLFYLFA 300
    SFVSVLPWGS CNNPWNTPEC KDKTKLLLDS CVISDHPKIQ IKNSTFCMTA 350
    YPNVTMVNFT SQANKTFVSG SEEYFKYFVL KISAGIEYPG EIRWPLALCL 400
    FLAWVIVYAS LAKGIKTSGK VVYFTATFPY VVLVILLIRG VTLPGAGAGI 450
    WYFITPKWEK LTDATVWKDA ATQIFFSLSA AWGGLITLSS YNKFHNNCYR 500
    DTLIVTCTNS ATSIFAGFVI FSVIGFMANE RKVNIENVAD QGPGIAFVVY 550
    PEALTRLPLS PFWAIIFFLM LLTLGLDTMF ATIETIVTSI SDEFPKYLRT 600
    HKPVFTLGCC ICFFIMGFPM ITQGGIYMFQ LVDTYAASYA LVIIAIFELV 650
    GISYVYGLQR FCEDIEMMIG FQPNIFWKVC WAFVTPTILT FILCFSFYQW 700
    EPMTYGSYRY PNWSMVLGWL MLACSVIWIP IMFVIKMHLA PGRFIERLKL 750
    VCSPQPDWGP FLAQHRGERY KNMIDPLGTS SLGLKLPVKD LELGTQC 797
    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.
    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

    ArrayExpressi Q9Y345.
    Bgeei Q9Y345.
    CleanExi HS_NET1.
    HS_SLC6A5.
    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

    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 1, 2014
    This is version 127 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