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UniProtKB - P43005 (EAA3_HUMAN)

Entry version 184 (02 Dec 2020)
Sequence version 2 (01 Feb 1996)
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Protein

Excitatory amino acid transporter 3

Gene

SLC1A1

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-dependent, high-affinity amino acid transporter that mediates the uptake of L-glutamate and also L-aspartate and D-aspartate (PubMed:7914198, PubMed:7521911, PubMed:8857541, PubMed:26690923, PubMed:21123949). Can also transport L-cysteine (PubMed:21123949). Functions as a symporter that transports one amino acid molecule together with two or three Na+ ions and one proton, in parallel with the counter-transport of one K+ ion (PubMed:7521911, PubMed:8857541, PubMed:26690923). Mediates Cl- flux that is not coupled to amino acid transport; this avoids the accumulation of negative charges due to aspartate and Na+ symport (PubMed:8857541, PubMed:26690923). Plays an important role in L-glutamate and L-aspartate reabsorption in renal tubuli (PubMed:21123949). Plays a redundant role in the rapid removal of released glutamate from the synaptic cleft, which is essential for terminating the postsynaptic action of glutamate (By similarity). Contributes to glutathione biosynthesis and protection against oxidative stress via its role in L-glutamate and L-cysteine transport (By similarity). Negatively regulated by ARL6IP5 (By similarity).By similarity5 Publications

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=268 µM for L-glutamate1 Publication

    Sites

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">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 bindingi362Sodium 1; via carbonyl oxygenBy similarity1
    Metal bindingi364Sodium 2; via carbonyl oxygenBy similarity1
    Metal bindingi366Sodium 1By similarity1
    <p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei370AspartateBy similarity1
    Binding sitei444AspartateBy similarity1
    Metal bindingi451Sodium 1; via carbonyl oxygenBy similarity1
    Binding sitei451AspartateBy similarity1
    Metal bindingi455Sodium 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 processAmino-acid transport, Symport, Transport
    LigandChloride, Metal-binding, Potassium, Sodium

    Enzyme and pathway databases

    Pathway Commons web resource for biological pathway data

    More...    PathwayCommonsi    		P43005

    Reactome - a knowledgebase of biological pathways and processes

    More...    Reactomei    		R-HSA-210500, Glutamate Neurotransmitter Release Cycle
    R-HSA-425393, Transport of inorganic cations/anions and amino acids/oligopeptides
    R-HSA-5619067, Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)

    Protein family/group databases

    Transport Classification Database

    More...    TCDBi    		2.A.23.2.3, the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) 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%5Fand%5Ftaxonomy%5Fsection">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:
    Excitatory amino acid transporter 3
    Alternative name(s):
    Excitatory amino-acid carrier 1
    Neuronal and epithelial glutamate transporter
    Sodium-dependent glutamate/aspartate transporter 3
    Solute carrier family 1 member 1
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:SLC1A1
    Synonyms:EAAC1, EAAT3
    <p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 9

    Organism-specific databases

    Eukaryotic Pathogen and Host Database Resources

    More...    EuPathDBi    		HostDB:ENSG00000106688.11

    Human Gene Nomenclature Database

    More...    HGNCi    		HGNC:10939, SLC1A1

    Online Mendelian Inheritance in Man (OMIM)

    More...    MIMi    		133550, gene

    neXtProt; the human protein knowledge platform

    More...    neXtProti    		NX_P43005

    <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%5Flocation%5Fsection">'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 – 18CytoplasmicCuratedAdd BLAST18
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei19 – 38HelicalSequence analysisAdd BLAST20
    Topological domaini39 – 61ExtracellularCuratedAdd BLAST23
    Transmembranei62 – 82HelicalSequence analysisAdd BLAST21
    Topological domaini83 – 93CytoplasmicCuratedAdd BLAST11
    Transmembranei94 – 114HelicalSequence analysisAdd BLAST21
    Topological domaini115 – 205ExtracellularCuratedAdd BLAST91
    Transmembranei206 – 229Helical; Name=4By similarityAdd BLAST24
    Topological domaini230 – 238CytoplasmicCurated9
    Transmembranei239 – 266Helical; Name=5By similarityAdd BLAST28
    Topological domaini267 – 286ExtracellularCuratedAdd BLAST20
    Transmembranei287 – 308Helical; Name=6By similarityAdd BLAST22
    Topological domaini309 – 313CytoplasmicCurated5
    <p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei314 – 344Discontinuously helicalBy similarityAdd BLAST31
    Topological domaini345 – 353CytoplasmicCurated9
    Transmembranei354 – 380Helical; Name=7By similarityAdd BLAST27
    Topological domaini381 – 393ExtracellularCuratedAdd BLAST13
    Intramembranei394 – 427Discontinuously helicalBy similarityAdd BLAST34
    Topological domaini428 – 440ExtracellularCuratedAdd BLAST13
    Transmembranei441 – 462Helical; Name=8By similarityAdd BLAST22
    Topological domaini463 – 524CytoplasmicCuratedAdd BLAST62

    Keywords - Cellular componenti

    Cell junction, Cell membrane, Endosome, Membrane, Synapse, Synaptosome

    <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

    Dicarboxylic aminoaciduria (DCBXA)1 Publication
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionAn autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with mental retardation.
    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_071953395Missing in DCBXA; inhibits L-glutamate and L-cysteine transport activities. 1 Publication1
    Natural variantiVAR_071954445R → W in DCBXA; reduces L-glutamate and L-cysteine transport activities; reduces cell membrane expression. 1 PublicationCorresponds to variant dbSNP:rs587777696EnsemblClinVar.1
    Schizophrenia 18 (SCZD18)2 Publications
    Disease susceptibility is associated with variations affecting the gene represented in this entry. A deletion at the chromosome 9p24.2 locus, including SLC1A1, has been identified in patients with psychotic disorders (PubMed:21982423). This 84 kb deletion is immediately upstream of the SLC1A1 gene in a regulatory region that contains the full native promoter sequence, extends through exon 1 of the SLC1A1 mRNA, co-segregates with disease in an extended 5-generation pedigree and increases disease risk more than 18-fold for family members (PubMed:23341099).2 Publications
    Disease descriptionA complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder.
    Related information in OMIM

    Keywords - Diseasei

    Disease mutation, Schizophrenia

    Organism-specific databases

    DisGeNET

    More...    DisGeNETi    		6505

    MalaCards human disease database

    More...    MalaCardsi    		SLC1A1
    MIMi222730, phenotype
    615232, phenotype

    Open Targets

    More...    OpenTargetsi    		ENSG00000106688

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

    More...    Orphaneti    		2195, Dicarboxylic aminoaciduria
    166412, Hot water reflex epilepsy

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...    PharmGKBi    		PA35826

    Miscellaneous databases

    Pharos NIH Druggable Genome Knowledgebase

    More...    Pharosi    		P43005, Tchem

    Chemistry databases

    ChEMBL database of bioactive drug-like small molecules

    More...    ChEMBLi    		CHEMBL2721

    Drug and drug target database

    More...    DrugBanki    		DB00128, Aspartic acid
    DB00142, Glutamic acid
    DB00230, Pregabalin

    DrugCentral

    More...    DrugCentrali    		P43005

    IUPHAR/BPS Guide to PHARMACOLOGY

    More...    GuidetoPHARMACOLOGYi    		870

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...    BioMutai    		SLC1A1

    Domain mapping of disease mutations (DMDM)

    More...    DMDMi    		1352332

    <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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002020651 – 524Excitatory amino acid transporter 3Add BLAST524

    Amino acid modifications

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi43N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi178N-linked (GlcNAc...) asparagineSequence analysis1
    Glycosylationi195N-linked (GlcNAc...) asparagineSequence analysis1
    <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 residuei517PhosphoserineBy similarity1
    Modified residuei522PhosphoserineBy similarity1

    <p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

    Glycosylated.

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...    EPDi    		P43005

    jPOST - Japan Proteome Standard Repository/Database

    More...    jPOSTi    		P43005

    MassIVE - Mass Spectrometry Interactive Virtual Environment

    More...    MassIVEi    		P43005

    MaxQB - The MaxQuant DataBase

    More...    MaxQBi    		P43005

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

    More...    PaxDbi    		P43005

    PeptideAtlas

    More...    PeptideAtlasi    		P43005

    PRoteomics IDEntifications database

    More...    PRIDEi    		P43005

    ProteomicsDB: a multi-organism proteome resource

    More...    ProteomicsDBi    		55571

    PTM databases

    GlyGen: Computational and Informatics Resources for Glycoscience

    More...    GlyGeni    		P43005, 4 sites, 1 O-linked glycan (1 site)

    iPTMnet integrated resource for PTMs in systems biology context

    More...    iPTMneti    		P43005

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

    More...    PhosphoSitePlusi    		P43005

    <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 all tissues tested including liver, muscle, testis, ovary, retinoblastoma cell line, neurons and brain (in which there was dense expression in substantia nigra, red nucleus, hippocampus and in cerebral cortical layers).3 Publications

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...    Bgeei    		ENSG00000106688, Expressed in caput epididymis and 202 other tissues

    ExpressionAtlas, Differential and Baseline Expression

    More...    ExpressionAtlasi    		P43005, baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...    Genevisiblei    		P43005, HS

    Organism-specific databases

    Human Protein Atlas

    More...    HPAi    		ENSG00000106688, Tissue enhanced (intestine, kidney)

    <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

    <p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

    Homotrimer (Probable).

    Interacts with ARL6IP5.

    Interacts with SORCS2; this interaction is important for normal expression at the cell membrane (By similarity).

    By similarityCurated

    <p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    Hide details

    GO - Molecular functioni

    Complete GO annotation on QuickGO ...

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGRID)

    More...    BioGRIDi    		112396, 51 interactors

    Protein interaction database and analysis system

    More...    IntActi    		P43005, 37 interactors

    STRING: functional protein association networks

    More...    STRINGi    		9606.ENSP00000262352

    Chemistry databases

    BindingDB database of measured binding affinities

    More...    BindingDBi    		P43005

    Miscellaneous databases

    RNAct, Protein-RNA interaction predictions for model organisms.

    More...    RNActi    		P43005, protein

    <p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

    Secondary structure

    1524
    Legend: HelixTurnBeta strandPDB Structure known for this area
    Show more details

    3D structure databases

    SWISS-MODEL Repository - a database of annotated 3D protein structure models

    More...    SMRi    		P43005

    Database of comparative protein structure models

    More...    ModBasei    		Search...

    Protein Data Bank in Europe - Knowledge Base

    More...    PDBe-KBi    		Search...

    <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

    Region

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni331 – 333Aspartate bindingBy similarity3
    Regioni411 – 415Aspartate bindingBy similarity5

    <p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

    Contains eight transmembrane regions plus two helical hairpins that dip into the membrane. These helical hairpin structures play an important role in the transport process. The first enters the membrane from the cytoplasmic side, the second one from the extracellular side. During the transport cycle, the regions involved in amino acid transport, and especially the helical hairpins, move vertically by about 15-18 Angstroms, alternating between exposure to the aqueous phase and reinsertion in the lipid bilayer. In contrast, the regions involved in trimerization do not move.By similarity

    <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 dicarboxylate/amino acid:cation symporter (DAACS) (TC 2.A.23) family. SLC1A1 subfamily. [View classification]Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...    eggNOGi    		KOG3787, Eukaryota

    Ensembl GeneTree

    More...    GeneTreei    		ENSGT00940000155397

    The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

    More...    HOGENOMi    		CLU_019375_3_2_1

    InParanoid: Eukaryotic Ortholog Groups

    More...    InParanoidi    		P43005

    Identification of Orthologs from Complete Genome Data

    More...    OMAi    		YLYIAVI

    Database of Orthologous Groups

    More...    OrthoDBi    		1184392at2759

    Database for complete collections of gene phylogenies

    More...    PhylomeDBi    		P43005

    TreeFam database of animal gene trees

    More...    TreeFami    		TF315206

    Family and domain databases

    Gene3D Structural and Functional Annotation of Protein Families

    More...    Gene3Di    		1.10.3860.10, 2 hits

    Integrated resource of protein families, domains and functional sites

    More...    InterProi    		View protein in InterPro
    IPR001991, Na-dicarboxylate_symporter
    IPR018107, Na-dicarboxylate_symporter_CS
    IPR036458, Na:dicarbo_symporter_sf

    Pfam protein domain database

    More...    Pfami    		View protein in Pfam
    PF00375, SDF, 1 hit

    Superfamily database of structural and functional annotation

    More...    SUPFAMi    		SSF118215, SSF118215, 1 hit

    PROSITE; a protein domain and family database

    More...    PROSITEi    		View protein in PROSITE
    PS00713, NA_DICARBOXYL_SYMP_1, 1 hit
    PS00714, NA_DICARBOXYL_SYMP_2, 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%5Flength">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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

    P43005-1 [UniParc]FASTAAdd to basket
    « Hide
            10         20         30         40         50
    MGKPARKGCE WKRFLKNNWV LLSTVAAVVL GITTGVLVRE HSNLSTLEKF 
            60         70         80         90        100
    YFAFPGEILM RMLKLIILPL IISSMITGVA ALDSNVSGKI GLRAVVYYFC 
           110        120        130        140        150
    TTLIAVILGI VLVVSIKPGV TQKVGEIART GSTPEVSTVD AMLDLIRNMF 
           160        170        180        190        200
    PENLVQACFQ QYKTKREEVK PPSDPEMNMT EESFTAVMTT AISKNKTKEY 
           210        220        230        240        250
    KIVGMYSDGI NVLGLIVFCL VFGLVIGKMG EKGQILVDFF NALSDATMKI 
           260        270        280        290        300
    VQIIMCYMPL GILFLIAGKI IEVEDWEIFR KLGLYMATVL TGLAIHSIVI 
           310        320        330        340        350
    LPLIYFIVVR KNPFRFAMGM AQALLTALMI SSSSATLPVT FRCAEENNQV 
           360        370        380        390        400
    DKRITRFVLP VGATINMDGT ALYEAVAAVF IAQLNDLDLG IGQIITISIT 
           410        420        430        440        450
    ATSASIGAAG VPQAGLVTMV IVLSAVGLPA EDVTLIIAVD WLLDRFRTMV 
           460        470        480        490        500
    NVLGDAFGTG IVEKLSKKEL EQMDVSSEVN IVNPFALEST ILDNEDSDTK 
           510        520 
    KSYVNGGFAV DKSDTISFTQ TSQF
    Length:524
    Mass (Da):57,100
    Last modified:February 1, 1996 - v2
    <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:iFC6244ADC9EA228F
    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
    H0Y7R2H0Y7R2_HUMAN
    Amino acid transporter
    SLC1A1
    		242Annotation score:

    Annotation score:2 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 conflicti10E → PS in AAA50430 (PubMed:7521911).Curated1
    Sequence conflicti92L → V in AAH33040 (PubMed:15489334).Curated1
    Sequence conflicti94A → V in AAA68628 (PubMed:7859077).Curated1
    Sequence conflicti94A → V in AAC27511 (PubMed:11317217).Curated1
    Sequence conflicti96V → L in AAA53215 (PubMed:7914198).Curated1
    Sequence conflicti170K → N in AAA53215 (PubMed:7914198).Curated1
    Sequence conflicti172P → A in AAA53215 (PubMed:7914198).Curated1
    Sequence conflicti260L → H in AAA53215 (PubMed:7914198).Curated1
    Sequence conflicti280R → A in AAA68628 (PubMed:7859077).Curated1
    Sequence conflicti376V → G in AAC25029 (Ref. 8) Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_02330927A → G. Corresponds to variant dbSNP:rs2229885Ensembl.1
    Natural variantiVAR_02330850F → Y. Corresponds to variant dbSNP:rs2228621EnsemblClinVar.1
    Natural variantiVAR_071953395Missing in DCBXA; inhibits L-glutamate and L-cysteine transport activities. 1 Publication1
    Natural variantiVAR_071954445R → W in DCBXA; reduces L-glutamate and L-cysteine transport activities; reduces cell membrane expression. 1 PublicationCorresponds to variant dbSNP:rs587777696EnsemblClinVar.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
    		U08989 mRNA Translation: AAA68628.1
    U06469 mRNA Translation: AAA53215.1
    U03506 mRNA Translation: AAA50430.1
    AF074911 AF074910 Genomic DNA Translation: AAC27511.3
    AB008536 mRNA Translation: BAB83767.1
    AL162587 Genomic DNA No translation available.
    AL136231 Genomic DNA No translation available.
    BC033040 mRNA Translation: AAH33040.1
    AF037982 mRNA Translation: AAC25029.1

    The Consensus CDS (CCDS) project

    More...    CCDSi    		CCDS6452.1

    Protein sequence database of the Protein Information Resource

    More...    PIRi    		A54856
    I38433
    I38560

    NCBI Reference Sequences

    More...    RefSeqi    		NP_004161.4, NM_004170.5

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...    Ensembli    		ENST00000262352; ENSP00000262352; ENSG00000106688

    Database of genes from NCBI RefSeq genomes

    More...    GeneIDi    		6505

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...    KEGGi    		hsa:6505

    UCSC genome browser

    More...    UCSCi    		uc003zij.3, 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
    		U08989 mRNA Translation: AAA68628.1
    U06469 mRNA Translation: AAA53215.1
    U03506 mRNA Translation: AAA50430.1
    AF074911 AF074910 Genomic DNA Translation: AAC27511.3
    AB008536 mRNA Translation: BAB83767.1
    AL162587 Genomic DNA No translation available.
    AL136231 Genomic DNA No translation available.
    BC033040 mRNA Translation: AAH33040.1
    AF037982 mRNA Translation: AAC25029.1
    CCDSiCCDS6452.1
    PIRiA54856
    I38433
    I38560
    RefSeqiNP_004161.4, NM_004170.5

    3D structure databases

    Select the link destinations:

    Protein Data Bank Europe

    More...    PDBei

    Protein Data Bank RCSB

    More...    RCSB PDBi

    Protein Data Bank Japan

    More...    PDBji
    Links Updated
    		PDB entryMethodResolution (Å)ChainPositionsPDBsum
    6S3Qelectron microscopy3.34A/B/C1-480[»]
    SMRiP43005
    ModBaseiSearch...
    PDBe-KBiSearch...

    Protein-protein interaction databases

    BioGRIDi112396, 51 interactors
    IntActiP43005, 37 interactors
    STRINGi9606.ENSP00000262352

    Chemistry databases

    BindingDBiP43005
    ChEMBLiCHEMBL2721
    DrugBankiDB00128, Aspartic acid
    DB00142, Glutamic acid
    DB00230, Pregabalin
    DrugCentraliP43005
    GuidetoPHARMACOLOGYi870

    Protein family/group databases

    TCDBi2.A.23.2.3, the dicarboxylate/amino acid:cation (na(+) or h(+)) symporter (daacs) family

    PTM databases

    GlyGeniP43005, 4 sites, 1 O-linked glycan (1 site)
    iPTMnetiP43005
    PhosphoSitePlusiP43005

    Polymorphism and mutation databases

    BioMutaiSLC1A1
    DMDMi1352332

    Proteomic databases

    EPDiP43005
    jPOSTiP43005
    MassIVEiP43005
    MaxQBiP43005
    PaxDbiP43005
    PeptideAtlasiP43005
    PRIDEiP43005
    ProteomicsDBi55571

    Protocols and materials databases

    ABCD curated depository of sequenced antibodies

    More...    ABCDi    		P43005, 1 sequenced antibody

    Antibodypedia a portal for validated antibodies

    More...    Antibodypediai    		3650, 346 antibodies

    The DNASU plasmid repository

    More...    DNASUi    		6505

    Genome annotation databases

    EnsembliENST00000262352; ENSP00000262352; ENSG00000106688
    GeneIDi6505
    KEGGihsa:6505
    UCSCiuc003zij.3, human

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...    CTDi    		6505
    DisGeNETi6505
    EuPathDBiHostDB:ENSG00000106688.11

    GeneCards: human genes, protein and diseases

    More...    GeneCardsi    		SLC1A1
    HGNCiHGNC:10939, SLC1A1
    HPAiENSG00000106688, Tissue enhanced (intestine, kidney)
    MalaCardsiSLC1A1
    MIMi133550, gene
    222730, phenotype
    615232, phenotype
    neXtProtiNX_P43005
    OpenTargetsiENSG00000106688
    Orphaneti2195, Dicarboxylic aminoaciduria
    166412, Hot water reflex epilepsy
    PharmGKBiPA35826

    GenAtlas: human gene database

    More...    GenAtlasi    		Search...

    Phylogenomic databases

    eggNOGiKOG3787, Eukaryota
    GeneTreeiENSGT00940000155397
    HOGENOMiCLU_019375_3_2_1
    InParanoidiP43005
    OMAiYLYIAVI
    OrthoDBi1184392at2759
    PhylomeDBiP43005
    TreeFamiTF315206

    Enzyme and pathway databases

    PathwayCommonsiP43005
    ReactomeiR-HSA-210500, Glutamate Neurotransmitter Release Cycle
    R-HSA-425393, Transport of inorganic cations/anions and amino acids/oligopeptides
    R-HSA-5619067, Defective SLC1A1 is implicated in schizophrenia 18 (SCZD18) and dicarboxylic aminoaciduria (DCBXA)

    Miscellaneous databases

    BioGRID ORCS database of CRISPR phenotype screens

    More...    BioGRID-ORCSi    		6505, 5 hits in 842 CRISPR screens

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

    More...    ChiTaRSi    		SLC1A1, human

    The Gene Wiki collection of pages on human genes and proteins

    More...    GeneWikii    		SLC1A1

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

    More...    GenomeRNAii    		6505
    PharosiP43005, Tchem

    Protein Ontology

    More...    PROi    		PR:P43005
    RNActiP43005, protein

    The Stanford Online Universal Resource for Clones and ESTs

    More...    SOURCEi    		Search...

    Gene expression databases

    BgeeiENSG00000106688, Expressed in caput epididymis and 202 other tissues
    ExpressionAtlasiP43005, baseline and differential
    GenevisibleiP43005, HS

    Family and domain databases

    Gene3Di1.10.3860.10, 2 hits
    InterProiView protein in InterPro
    IPR001991, Na-dicarboxylate_symporter
    IPR018107, Na-dicarboxylate_symporter_CS
    IPR036458, Na:dicarbo_symporter_sf
    PfamiView protein in Pfam
    PF00375, SDF, 1 hit
    SUPFAMiSSF118215, SSF118215, 1 hit
    PROSITEiView protein in PROSITE
    PS00713, NA_DICARBOXYL_SYMP_1, 1 hit
    PS00714, NA_DICARBOXYL_SYMP_2, 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 nameiEAA3_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: P43005
    Secondary accession number(s): O75587
    , Q5VZ24, Q8N199, Q9UEW2
    <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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1995
    Last sequence update: February 1, 1996
    Last modified: December 2, 2020
    This is version 184 of the entry and version 2 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

    3D-structure, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    3. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    4. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    5. SIMILARITY comments
      Index of protein domains and families
    6. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
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