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Entry version 146 (13 Feb 2019)
Sequence version 3 (30 Nov 2010)
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Protein

Equilibrative nucleoside transporter 3

Gene

SLC29A3

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

Mediates both influx and efflux of nucleosides across the membrane (equilibrative transporter). Mediates transport of adenine, adenosine and uridine, as well as several nucleoside analog drugs, such as anticancer and antiviral agents, including cladribine, cordycepin, tubercidin and AZT. Does not transport hypoxanthine.1 Publication

<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=1.86 mM for adenosine1 Publication
  2. KM=2.02 mM for uridine1 Publication

    pH dependencei

    Optimum pH is 5.5 for adenosine uptake.1 Publication

    <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

    • nucleoside transmembrane transporter activity Source: GO_Central

    <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 processTransport

    Enzyme and pathway databases

    Reactome - a knowledgebase of biological pathways and processes

    More...
    Reactomei
    R-HSA-5619063 Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
    R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

    Protein family/group databases

    Transport Classification Database

    More...
    TCDBi
    2.A.57.1.6 the equilibrative nucleoside transporter (ent) 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:
    Equilibrative nucleoside transporter 3
    Short name:
    hENT3
    Alternative name(s):
    Solute carrier family 29 member 3
    <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:SLC29A3
    Synonyms:ENT3
    ORF Names:UNQ717/PRO1380
    <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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    <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 10

    Organism-specific databases

    Eukaryotic Pathogen Database Resources

    More...
    EuPathDBi
    HostDB:ENSG00000198246.7

    Human Gene Nomenclature Database

    More...
    HGNCi
    HGNC:23096 SLC29A3

    Online Mendelian Inheritance in Man (OMIM)

    More...
    MIMi
    612373 gene

    neXtProt; the human protein knowledge platform

    More...
    neXtProti
    NX_Q9BZD2

    <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; 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 – 53CytoplasmicSequence analysisAdd BLAST53
    <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>Transmembranei54 – 74HelicalSequence analysisAdd BLAST21
    Topological domaini75 – 105ExtracellularSequence analysisAdd BLAST31
    Transmembranei106 – 126HelicalSequence analysisAdd BLAST21
    Topological domaini127 – 134CytoplasmicSequence analysis8
    Transmembranei135 – 155HelicalSequence analysisAdd BLAST21
    Topological domaini156 – 162ExtracellularSequence analysis7
    Transmembranei163 – 183HelicalSequence analysisAdd BLAST21
    Topological domaini184 – 199CytoplasmicSequence analysisAdd BLAST16
    Transmembranei200 – 220HelicalSequence analysisAdd BLAST21
    Topological domaini221 – 230ExtracellularSequence analysis10
    Transmembranei231 – 251HelicalSequence analysisAdd BLAST21
    Topological domaini252 – 305CytoplasmicSequence analysisAdd BLAST54
    Transmembranei306 – 326HelicalSequence analysisAdd BLAST21
    Topological domaini327 – 337ExtracellularSequence analysisAdd BLAST11
    Transmembranei338 – 358HelicalSequence analysisAdd BLAST21
    Topological domaini359 – 377CytoplasmicSequence analysisAdd BLAST19
    Transmembranei378 – 398HelicalSequence analysisAdd BLAST21
    Topological domaini399 – 415ExtracellularSequence analysisAdd BLAST17
    Transmembranei416 – 436HelicalSequence analysisAdd BLAST21
    Topological domaini437 – 454CytoplasmicSequence analysisAdd BLAST18
    Transmembranei455 – 475HelicalSequence analysisAdd BLAST21

    Keywords - Cellular componenti

    Endosome, Lysosome, 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

    Histiocytosis-lymphadenopathy plus syndrome (HLAS)9 Publications
    The disease is caused by mutations affecting the gene represented in this entry.
    Disease descriptionA syndrome characterized by the combination of features from 2 or more of four histiocytic disorders, originally thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). FHC features include joint deformities, sensorineural hearing loss, and subsequent development of generalized lymphadenopathy and swellings in the eyelids that contain histiocytes. SHML causes lymph node enlargement in children frequently accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate, and polyclonal hypergammaglobulinemia. H syndrome is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism; hearing loss is found in about half of patients. PHID is characterized by predominantly antibody-negative insulin-dependent diabetes mellitus associated with pigmented hypertrichosis and variable occurrence of other features of H syndrome.
    See also OMIM:602782
    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_067801116M → R in HLAS; partially retained in the endoplasmic reticulum; results in reduced nucleoside transport. 2 PublicationsCorresponds to variant dbSNP:rs267607057EnsemblClinVar.1
    Natural variantiVAR_067802134R → C in HLAS. 1 PublicationCorresponds to variant dbSNP:rs1430557607Ensembl.1
    Natural variantiVAR_067804184S → R in HLAS. 1 PublicationCorresponds to variant dbSNP:rs1023257012Ensembl.1
    Natural variantiVAR_067806363R → Q in HLAS. 2 PublicationsCorresponds to variant dbSNP:rs387907066EnsemblClinVar.1
    Natural variantiVAR_067807363R → W in HLAS. 1 PublicationCorresponds to variant dbSNP:rs387907067EnsemblClinVar.1
    Natural variantiVAR_057884427G → S in HLAS; almost total loss of nucleoside transport. 3 PublicationsCorresponds to variant dbSNP:rs121912583EnsemblClinVar.1
    Natural variantiVAR_057885437G → R in HLAS; results in reduced nucleoside transport. 7 PublicationsCorresponds to variant dbSNP:rs121912584EnsemblClinVar.1
    Natural variantiVAR_067809449T → R in HLAS; results in reduced nucleoside transport. 2 PublicationsCorresponds to variant dbSNP:rs267607058EnsemblClinVar.1

    Mutagenesis

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi31L → A: Localization at the cell surface; when associated with A-32. 1 Publication1
    Mutagenesisi32L → A: Localization at the cell surface; when associated with A-31. 1 Publication1
    Mutagenesisi427G → A, F, Y or T: Results in impaired nucleoside transport. 1 Publication1

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    DisGeNET

    More...
    DisGeNETi
    55315

    MalaCards human disease database

    More...
    MalaCardsi
    SLC29A3
    MIMi602782 phenotype

    Open Targets

    More...
    OpenTargetsi
    ENSG00000198246

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

    More...
    Orphaneti
    1782 Dysosteosclerosis
    168569 H syndrome

    The Pharmacogenetics and Pharmacogenomics Knowledge Base

    More...
    PharmGKBi
    PA134950750

    Polymorphism and mutation databases

    BioMuta curated single-nucleotide variation and disease association database

    More...
    BioMutai
    SLC29A3

    Domain mapping of disease mutations (DMDM)

    More...
    DMDMi
    313104188

    <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_00002093431 – 475Equilibrative nucleoside transporter 3Add BLAST475

    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 residuei21PhosphoserineBy similarity1
    Modified residuei23PhosphoserineCombined sources1
    <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>Glycosylationi84N-linked (GlcNAc...) asparagineSequence analysis1

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    Encyclopedia of Proteome Dynamics

    More...
    EPDi
    Q9BZD2

    jPOST - Japan Proteome Standard Repository/Database

    More...
    jPOSTi
    Q9BZD2

    MaxQB - The MaxQuant DataBase

    More...
    MaxQBi
    Q9BZD2

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

    More...
    PaxDbi
    Q9BZD2

    PeptideAtlas

    More...
    PeptideAtlasi
    Q9BZD2

    PRoteomics IDEntifications database

    More...
    PRIDEi
    Q9BZD2

    ProteomicsDB human proteome resource

    More...
    ProteomicsDBi
    79812
    79813 [Q9BZD2-2]

    PTM databases

    iPTMnet integrated resource for PTMs in systems biology context

    More...
    iPTMneti
    Q9BZD2

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

    More...
    PhosphoSitePlusi
    Q9BZD2

    <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

    Widely expressed in both adult and fetal tissues. Highest levels in placenta, uterus, ovary, spleen, lymph node and bone marrow. Lowest levels in brain and heart.1 Publication

    Gene expression databases

    Bgee dataBase for Gene Expression Evolution

    More...
    Bgeei
    ENSG00000198246 Expressed in 190 organ(s), highest expression level in chorionic villus

    ExpressionAtlas, Differential and Baseline Expression

    More...
    ExpressionAtlasi
    Q9BZD2 baseline and differential

    Genevisible search portal to normalized and curated expression data from Genevestigator

    More...
    Genevisiblei
    Q9BZD2 HS

    Organism-specific databases

    Human Protein Atlas

    More...
    HPAi
    HPA046085
    HPA054976
    HPA057905

    <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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

    WithEntry#Exp.IntActNotes
    CREB3O43889-23EBI-12701374,EBI-625022

    Protein-protein interaction databases

    The Biological General Repository for Interaction Datasets (BioGrid)

    More...
    BioGridi
    120597, 1 interactor

    Protein interaction database and analysis system

    More...
    IntActi
    Q9BZD2, 1 interactor

    STRING: functional protein association networks

    More...
    STRINGi
    9606.ENSP00000362285

    <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

    3D structure databases

    Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

    More...
    ProteinModelPortali
    Q9BZD2

    Database of comparative protein structure models

    More...
    ModBasei
    Search...

    MobiDB: a database of protein disorder and mobility annotations

    More...
    MobiDBi
    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

    <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

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    evolutionary genealogy of genes: Non-supervised Orthologous Groups

    More...
    eggNOGi
    KOG1479 Eukaryota
    ENOG410Y3MT LUCA

    Ensembl GeneTree

    More...
    GeneTreei
    ENSGT00940000153807

    The HOVERGEN Database of Homologous Vertebrate Genes

    More...
    HOVERGENi
    HBG108444

    InParanoid: Eukaryotic Ortholog Groups

    More...
    InParanoidi
    Q9BZD2

    KEGG Orthology (KO)

    More...
    KOi
    K15014

    Identification of Orthologs from Complete Genome Data

    More...
    OMAi
    CNYQPRV

    Database of Orthologous Groups

    More...
    OrthoDBi
    559763at2759

    Database for complete collections of gene phylogenies

    More...
    PhylomeDBi
    Q9BZD2

    TreeFam database of animal gene trees

    More...
    TreeFami
    TF313950

    Family and domain databases

    Integrated resource of protein families, domains and functional sites

    More...
    InterProi
    View protein in InterPro
    IPR030193 ENT3
    IPR002259 Eqnu_transpt

    The PANTHER Classification System

    More...
    PANTHERi
    PTHR10332 PTHR10332, 1 hit
    PTHR10332:SF17 PTHR10332:SF17, 1 hit

    Pfam protein domain database

    More...
    Pfami
    View protein in Pfam
    PF01733 Nucleoside_tran, 1 hit

    PIRSF; a whole-protein classification database

    More...
    PIRSFi
    PIRSF016379 ENT, 1 hit

    Protein Motif fingerprint database; a protein domain database

    More...
    PRINTSi
    PR01130 DERENTRNSPRT

    <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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)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 describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

    This entry has 2 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

    Isoform 1 (identifier: Q9BZD2-1) [UniParc]FASTAAdd to basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide
            10         20         30         40         50
    MAVVSEDDFQ HSSNSTYRTT SSSLRADQEA LLEKLLDRPP PGLQRPEDRF
    60 70 80 90 100
    CGTYIIFFSL GIGSLLPWNF FITAKEYWMF KLRNSSSPAT GEDPEGSDIL
    110 120 130 140 150
    NYFESYLAVA STVPSMLCLV ANFLLVNRVA VHIRVLASLT VILAIFMVIT
    160 170 180 190 200
    ALVKVDTSSW TRGFFAVTIV CMVILSGAST VFSSSIYGMT GSFPMRNSQA
    210 220 230 240 250
    LISGGAMGGT VSAVASLVDL AASSDVRNSA LAFFLTATVF LVLCMGLYLL
    260 270 280 290 300
    LSRLEYARYY MRPVLAAHVF SGEEELPQDS LSAPSVASRF IDSHTPPLRP
    310 320 330 340 350
    ILKKTASLGF CVTYVFFITS LIYPAICTNI ESLNKGSGSL WTTKFFIPLT
    360 370 380 390 400
    TFLLYNFADL CGRQLTAWIQ VPGPNSKALP GFVLLRTCLI PLFVLCNYQP
    410 420 430 440 450
    RVHLKTVVFQ SDVYPALLSS LLGLSNGYLS TLALLYGPKI VPRELAEATG
    460 470
    VVMSFYVCLG LTLGSACSTL LVHLI
    Length:475
    Mass (Da):51,815
    Last modified:November 30, 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:iDBF0918ECA6D5A70
    GO
    Isoform 2 (identifier: Q9BZD2-2) [UniParc]FASTAAdd to basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-146: Missing.

    Note: No experimental confirmation available.
    Show »
    Length:329
    Mass (Da):35,502
    Checksum:iA06B3DCAB26EB536
    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 are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
    EntryEntry nameProtein names
    Gene namesLengthAnnotation
    A0A2R8YDR8A0A2R8YDR8_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    397Annotation 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>
    A0A2R8Y4B7A0A2R8Y4B7_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    196Annotation 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>
    A0A2R8Y4I0A0A2R8Y4I0_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    122Annotation 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>
    A0A2R8Y657A0A2R8Y657_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    222Annotation 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>
    A0A2R8YDA4A0A2R8YDA4_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    144Annotation 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>
    A0A2R8Y5R8A0A2R8Y5R8_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    148Annotation 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>
    A0A2R8Y863A0A2R8Y863_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    99Annotation 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>
    A0A2R8YGC2A0A2R8YGC2_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    198Annotation 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>
    A0A2R8Y5U2A0A2R8Y5U2_HUMAN
    Equilibrative nucleoside transporte...
    SLC29A3
    120Annotation 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>

    <p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

    The sequence BAA92041 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    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 conflicti32L → P in BAG37097 (PubMed:14702039).Curated1
    Sequence conflicti112T → A in BAA92041 (PubMed:14702039).Curated1
    Sequence conflicti306A → S in BAG65311 (PubMed:14702039).Curated1
    Sequence conflicti370Q → R in BAA92041 (PubMed:14702039).Curated1
    Sequence conflicti453M → I in BAG65311 (PubMed:14702039).Curated1

    Natural variant

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    Natural variantiVAR_01866218R → G1 PublicationCorresponds to variant dbSNP:rs2277257EnsemblClinVar.1
    Natural variantiVAR_067801116M → R in HLAS; partially retained in the endoplasmic reticulum; results in reduced nucleoside transport. 2 PublicationsCorresponds to variant dbSNP:rs267607057EnsemblClinVar.1
    Natural variantiVAR_067802134R → C in HLAS. 1 PublicationCorresponds to variant dbSNP:rs1430557607Ensembl.1
    Natural variantiVAR_018663158S → F4 PublicationsCorresponds to variant dbSNP:rs780668EnsemblClinVar.1
    Natural variantiVAR_067803163G → V1 PublicationCorresponds to variant dbSNP:rs143557881EnsemblClinVar.1
    Natural variantiVAR_067804184S → R in HLAS. 1 PublicationCorresponds to variant dbSNP:rs1023257012Ensembl.1
    Natural variantiVAR_018664239V → I5 PublicationsCorresponds to variant dbSNP:rs2252996EnsemblClinVar.1
    Natural variantiVAR_067805281L → P1 PublicationCorresponds to variant dbSNP:rs79737301EnsemblClinVar.1
    Natural variantiVAR_018665326I → V5 PublicationsCorresponds to variant dbSNP:rs2487068EnsemblClinVar.1
    Natural variantiVAR_067806363R → Q in HLAS. 2 PublicationsCorresponds to variant dbSNP:rs387907066EnsemblClinVar.1
    Natural variantiVAR_067807363R → W in HLAS. 1 PublicationCorresponds to variant dbSNP:rs387907067EnsemblClinVar.1
    Natural variantiVAR_067808407V → M1 PublicationCorresponds to variant dbSNP:rs144517514Ensembl.1
    Natural variantiVAR_057884427G → S in HLAS; almost total loss of nucleoside transport. 3 PublicationsCorresponds to variant dbSNP:rs121912583EnsemblClinVar.1
    Natural variantiVAR_057885437G → R in HLAS; results in reduced nucleoside transport. 7 PublicationsCorresponds to variant dbSNP:rs121912584EnsemblClinVar.1
    Natural variantiVAR_067809449T → R in HLAS; results in reduced nucleoside transport. 2 PublicationsCorresponds to variant dbSNP:rs267607058EnsemblClinVar.1
    Natural variantiVAR_018666452V → E. Corresponds to variant dbSNP:rs999940Ensembl.1

    Alternative sequence

    Feature keyPosition(s)DescriptionActionsGraphical viewLength
    <p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0374361 – 146Missing in isoform 2. 1 PublicationAdd BLAST146

    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
    AF326987 mRNA Translation: AAK00958.1
    BK000392 Genomic DNA Translation: DAA00364.1
    AY288928 mRNA Translation: AAP41133.1
    AY358686 mRNA Translation: AAQ89049.1
    AK002022 mRNA Translation: BAA92041.1 Different initiation.
    AK314497 mRNA Translation: BAG37097.1
    AK304503 mRNA Translation: BAG65311.1
    AK316152 mRNA Translation: BAH14523.1
    AL359183 Genomic DNA No translation available.
    AL359384 Genomic DNA No translation available.
    BC000223 mRNA Translation: AAH00223.1
    BC041575 mRNA Translation: AAH41575.1
    BC120996 mRNA Translation: AAI20997.1
    BC120997 mRNA Translation: AAI20998.1

    The Consensus CDS (CCDS) project

    More...
    CCDSi
    CCDS7310.1 [Q9BZD2-1]

    NCBI Reference Sequences

    More...
    RefSeqi
    NP_001167569.1, NM_001174098.1
    NP_060814.4, NM_018344.5 [Q9BZD2-1]
    XP_016871866.1, XM_017016377.1 [Q9BZD2-2]

    UniGene gene-oriented nucleotide sequence clusters

    More...
    UniGenei
    Hs.438419

    Genome annotation databases

    Ensembl eukaryotic genome annotation project

    More...
    Ensembli
    ENST00000373189; ENSP00000362285; ENSG00000198246 [Q9BZD2-1]
    ENST00000642647; ENSP00000495980; ENSG00000198246 [Q9BZD2-1]

    Database of genes from NCBI RefSeq genomes

    More...
    GeneIDi
    55315

    KEGG: Kyoto Encyclopedia of Genes and Genomes

    More...
    KEGGi
    hsa:55315

    UCSC genome browser

    More...
    UCSCi
    uc001jrr.5 human [Q9BZD2-1]

    Keywords - Coding sequence diversityi

    Alternative splicing, 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
    AF326987 mRNA Translation: AAK00958.1
    BK000392 Genomic DNA Translation: DAA00364.1
    AY288928 mRNA Translation: AAP41133.1
    AY358686 mRNA Translation: AAQ89049.1
    AK002022 mRNA Translation: BAA92041.1 Different initiation.
    AK314497 mRNA Translation: BAG37097.1
    AK304503 mRNA Translation: BAG65311.1
    AK316152 mRNA Translation: BAH14523.1
    AL359183 Genomic DNA No translation available.
    AL359384 Genomic DNA No translation available.
    BC000223 mRNA Translation: AAH00223.1
    BC041575 mRNA Translation: AAH41575.1
    BC120996 mRNA Translation: AAI20997.1
    BC120997 mRNA Translation: AAI20998.1
    CCDSiCCDS7310.1 [Q9BZD2-1]
    RefSeqiNP_001167569.1, NM_001174098.1
    NP_060814.4, NM_018344.5 [Q9BZD2-1]
    XP_016871866.1, XM_017016377.1 [Q9BZD2-2]
    UniGeneiHs.438419

    3D structure databases

    ProteinModelPortaliQ9BZD2
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    BioGridi120597, 1 interactor
    IntActiQ9BZD2, 1 interactor
    STRINGi9606.ENSP00000362285

    Protein family/group databases

    TCDBi2.A.57.1.6 the equilibrative nucleoside transporter (ent) family

    PTM databases

    iPTMnetiQ9BZD2
    PhosphoSitePlusiQ9BZD2

    Polymorphism and mutation databases

    BioMutaiSLC29A3
    DMDMi313104188

    Proteomic databases

    EPDiQ9BZD2
    jPOSTiQ9BZD2
    MaxQBiQ9BZD2
    PaxDbiQ9BZD2
    PeptideAtlasiQ9BZD2
    PRIDEiQ9BZD2
    ProteomicsDBi79812
    79813 [Q9BZD2-2]

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

    EnsembliENST00000373189; ENSP00000362285; ENSG00000198246 [Q9BZD2-1]
    ENST00000642647; ENSP00000495980; ENSG00000198246 [Q9BZD2-1]
    GeneIDi55315
    KEGGihsa:55315
    UCSCiuc001jrr.5 human [Q9BZD2-1]

    Organism-specific databases

    Comparative Toxicogenomics Database

    More...
    CTDi
    55315
    DisGeNETi55315
    EuPathDBiHostDB:ENSG00000198246.7

    GeneCards: human genes, protein and diseases

    More...
    GeneCardsi
    SLC29A3

    H-Invitational Database, human transcriptome db

    More...
    H-InvDBi
    HIX0008903
    HGNCiHGNC:23096 SLC29A3
    HPAiHPA046085
    HPA054976
    HPA057905
    MalaCardsiSLC29A3
    MIMi602782 phenotype
    612373 gene
    neXtProtiNX_Q9BZD2
    OpenTargetsiENSG00000198246
    Orphaneti1782 Dysosteosclerosis
    168569 H syndrome
    PharmGKBiPA134950750

    GenAtlas: human gene database

    More...
    GenAtlasi
    Search...

    Phylogenomic databases

    eggNOGiKOG1479 Eukaryota
    ENOG410Y3MT LUCA
    GeneTreeiENSGT00940000153807
    HOVERGENiHBG108444
    InParanoidiQ9BZD2
    KOiK15014
    OMAiCNYQPRV
    OrthoDBi559763at2759
    PhylomeDBiQ9BZD2
    TreeFamiTF313950

    Enzyme and pathway databases

    ReactomeiR-HSA-5619063 Defective SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS)
    R-HSA-83936 Transport of nucleosides and free purine and pyrimidine bases across the plasma membrane

    Miscellaneous databases

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

    More...
    ChiTaRSi
    SLC29A3 human

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

    More...
    GenomeRNAii
    55315

    Protein Ontology

    More...
    PROi
    PR:Q9BZD2

    The Stanford Online Universal Resource for Clones and ESTs

    More...
    SOURCEi
    Search...

    Gene expression databases

    BgeeiENSG00000198246 Expressed in 190 organ(s), highest expression level in chorionic villus
    ExpressionAtlasiQ9BZD2 baseline and differential
    GenevisibleiQ9BZD2 HS

    Family and domain databases

    InterProiView protein in InterPro
    IPR030193 ENT3
    IPR002259 Eqnu_transpt
    PANTHERiPTHR10332 PTHR10332, 1 hit
    PTHR10332:SF17 PTHR10332:SF17, 1 hit
    PfamiView protein in Pfam
    PF01733 Nucleoside_tran, 1 hit
    PIRSFiPIRSF016379 ENT, 1 hit
    PRINTSiPR01130 DERENTRNSPRT

    ProtoNet; Automatic hierarchical classification of proteins

    More...
    ProtoNeti
    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 nameiS29A3_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: Q9BZD2
    Secondary accession number(s): B2RB50
    , B4E2Z9, B7ZA37, Q0VAM9, Q5T465, Q7RTT8, Q8IVZ0, Q9BWI2, Q9NUS9
    <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: May 24, 2004
    Last sequence update: November 30, 2010
    Last modified: February 13, 2019
    This is version 146 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

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 10
      Human chromosome 10: entries, gene names and cross-references to MIM
    2. SIMILARITY comments
      Index of protein domains and families
    3. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    4. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    5. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    UniProt is an ELIXIR core data resource
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