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UniProtKB - Q9Y345 (SC6A5_HUMAN)

Entry version 170 (11 Dec 2019)
Sequence version 3 (18 May 2010)
Previous versions | rss
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Protein

Sodium- and chloride-dependent glycine transporter 2

Gene

SLC6A5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Sodium- and chloride-dependent glycine transporter (PubMed:9845349, PubMed:10381548, PubMed:10606742, PubMed:31370103). Terminates the action of glycine by its high affinity sodium-dependent reuptake into presynaptic terminals (PubMed:9845349). May be responsible for the termination of neurotransmission at strychnine-sensitive glycinergic synapses (PubMed:9845349).4 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC6A5
Synonyms:GLYT2, NET1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000165970.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:11051 SLC6A5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604159 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y345

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 199CytoplasmicSequence analysisAdd BLAST199
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hyperekplexia 3 (HKPX3)2 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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_082588429P → L in HKPX3; impairs glycine transport; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs745539706Ensembl.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

DisGeNET

More...DisGeNETi		9152

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SLC6A5

MalaCards human disease database

More...MalaCardsi		SLC6A5
MIMi614618 phenotype

Open Targets

More...OpenTargetsi		ENSG00000165970

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3197 Hereditary hyperekplexia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA35911

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y345 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL3060

Drug and drug target database

More...DrugBanki		DB00145 Glycine

DrugCentral

More...DrugCentrali		Q9Y345

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		936

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC6A5

Domain mapping of disease mutations (DMDM)

More...DMDMi		296452967

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002147621 – 797Sodium- and chloride-dependent glycine transporter 2Add BLAST797

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei56PhosphoserineBy similarity1
Modified residuei57PhosphothreonineBy similarity1
Modified residuei84PhosphoserineBy similarity1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi311 ↔ 320By similarity
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi343N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi353N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi358N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi364N-linked (GlcNAc...) asparagineSequence analysis1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

N-glycosylated.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y345

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y345

PeptideAtlas

More...PeptideAtlasi		Q9Y345

PRoteomics IDEntifications database

More...PRIDEi		Q9Y345

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85975

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y345

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y345

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000165970 Expressed in 25 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y345 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y345 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB079052

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		114599, 13 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y345, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000434364

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9Y345

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y345 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3659 Eukaryota
COG0733 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000154963

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000116406

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y345

KEGG Orthology (KO)

More...KOi		K05038

Identification of Orthologs from Complete Genome Data

More...OMAi		ICSVIWI

Database of Orthologous Groups

More...OrthoDBi		250396at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y345

TreeFam database of animal gene trees

More...TreeFami		TF343812

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000175 Na/ntran_symport
IPR037272 SNS_sf

The PANTHER Classification System

More...PANTHERi		PTHR11616 PTHR11616, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00209 SNF, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00176 NANEUSMPORT

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF161070 SSF161070, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00610 NA_NEUROTRAN_SYMP_1, 1 hit
PS00754 NA_NEUROTRAN_SYMP_2, 1 hit
PS50267 NA_NEUROTRAN_SYMP_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i47D8A9B179896CE0
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KNC4J3KNC4_HUMAN
Sodium- and chloride-dependent glyc...
SLC6A5
187Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_082588429P → L in HKPX3; impairs glycine transport; no effect on subcellular location. 1 PublicationCorresponds to variant dbSNP:rs745539706Ensembl.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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7854.1

NCBI Reference Sequences

More...RefSeqi		NP_001305298.1, NM_001318369.1
NP_004202.3, NM_004211.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000525748; ENSP00000434364; ENSG00000165970

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9152

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9152

UCSC genome browser

More...UCSCi		uc001mqd.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGridi114599, 13 interactors
IntActiQ9Y345, 10 interactors
STRINGi9606.ENSP00000434364

Chemistry databases

BindingDBiQ9Y345
ChEMBLiCHEMBL3060
DrugBankiDB00145 Glycine
DrugCentraliQ9Y345
GuidetoPHARMACOLOGYi936

Protein family/group databases

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

PTM databases

iPTMnetiQ9Y345
PhosphoSitePlusiQ9Y345

Polymorphism and mutation databases

BioMutaiSLC6A5
DMDMi296452967

Proteomic databases

MassIVEiQ9Y345
PaxDbiQ9Y345
PeptideAtlasiQ9Y345
PRIDEiQ9Y345
ProteomicsDBi85975

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9152
DisGeNETi9152
EuPathDBiHostDB:ENSG00000165970.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC6A5
GeneReviewsiSLC6A5
HGNCiHGNC:11051 SLC6A5
HPAiCAB079052
MalaCardsiSLC6A5
MIMi604159 gene
614618 phenotype
neXtProtiNX_Q9Y345
OpenTargetsiENSG00000165970
Orphaneti3197 Hereditary hyperekplexia
PharmGKBiPA35911

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3659 Eukaryota
COG0733 LUCA
GeneTreeiENSGT00940000154963
HOGENOMiHOG000116406
InParanoidiQ9Y345
KOiK05038
OMAiICSVIWI
OrthoDBi250396at2759
PhylomeDBiQ9Y345
TreeFamiTF343812

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC6A5 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Glycine_transporter_2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9152
PharosiQ9Y345 Tchem

Protein Ontology

More...PROi		PR:Q9Y345
RNActiQ9Y345 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000165970 Expressed in 25 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ9Y345 baseline and differential
GenevisibleiQ9Y345 HS

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, 1 hit
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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSC6A5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y345
Secondary accession number(s): O95288, Q4VAM7, Q9BX77
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: May 18, 2010
Last modified: December 11, 2019
This is version 170 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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