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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-Experimental evidence at protein leveli

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

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

    GO - Molecular functioni

    Complete GO annotation...

    Keywords - Biological processi

    Transport

    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.

    Protein family/group databases

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

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Equilibrative nucleoside transporter 3
    Short name:
    hENT3
    Alternative name(s):
    Solute carrier family 29 member 3
    Gene namesi
    Name:SLC29A3
    Synonyms:ENT3
    ORF Names:UNQ717/PRO1380
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    Proteomesi
    • UP000005640 Componenti: Chromosome 10

    Organism-specific databases

    HGNCiHGNC:23096. SLC29A3.

    Subcellular locationi

    Topology

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 5353CytoplasmicSequence analysisAdd
    BLAST
    Transmembranei54 – 7421HelicalSequence analysisAdd
    BLAST
    Topological domaini75 – 10531ExtracellularSequence analysisAdd
    BLAST
    Transmembranei106 – 12621HelicalSequence analysisAdd
    BLAST
    Topological domaini127 – 1348CytoplasmicSequence analysis
    Transmembranei135 – 15521HelicalSequence analysisAdd
    BLAST
    Topological domaini156 – 1627ExtracellularSequence analysis
    Transmembranei163 – 18321HelicalSequence analysisAdd
    BLAST
    Topological domaini184 – 19916CytoplasmicSequence analysisAdd
    BLAST
    Transmembranei200 – 22021HelicalSequence analysisAdd
    BLAST
    Topological domaini221 – 23010ExtracellularSequence analysis
    Transmembranei231 – 25121HelicalSequence analysisAdd
    BLAST
    Topological domaini252 – 30554CytoplasmicSequence analysisAdd
    BLAST
    Transmembranei306 – 32621HelicalSequence analysisAdd
    BLAST
    Topological domaini327 – 33711ExtracellularSequence analysisAdd
    BLAST
    Transmembranei338 – 35821HelicalSequence analysisAdd
    BLAST
    Topological domaini359 – 37719CytoplasmicSequence analysisAdd
    BLAST
    Transmembranei378 – 39821HelicalSequence analysisAdd
    BLAST
    Topological domaini399 – 41517ExtracellularSequence analysisAdd
    BLAST
    Transmembranei416 – 43621HelicalSequence analysisAdd
    BLAST
    Topological domaini437 – 45418CytoplasmicSequence analysisAdd
    BLAST
    Transmembranei455 – 47521HelicalSequence analysisAdd
    BLAST

    GO - Cellular componenti

    • integral component of membrane Source: UniProtKB-KW
    • late endosome membrane Source: UniProtKB-SubCell
    • lysosomal membrane Source: UniProtKB
    Complete GO annotation...

    Keywords - Cellular componenti

    Endosome, Lysosome, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Histiocytosis-lymphadenopathy plus syndrome (HLAS)8 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)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti116 – 1161M → R in HLAS; partially retained in the endoplasmic reticulum; results in reduced nucleoside transport. 2 Publications
    VAR_067801
    Natural varianti134 – 1341R → C in HLAS. 1 Publication
    VAR_067802
    Natural varianti184 – 1841S → R in HLAS. 1 Publication
    VAR_067804
    Natural varianti363 – 3631R → Q in HLAS. 2 Publications
    VAR_067806
    Natural varianti363 – 3631R → W in HLAS. 1 Publication
    VAR_067807
    Natural varianti427 – 4271G → S in HLAS; almost total loss of nucleoside transport. 3 Publications
    Corresponds to variant rs121912583 [ dbSNP | Ensembl ].
    VAR_057884
    Natural varianti437 – 4371G → R in HLAS; results in reduced nucleoside transport. 7 Publications
    Corresponds to variant rs121912584 [ dbSNP | Ensembl ].
    VAR_057885
    Natural varianti449 – 4491T → R in HLAS; results in reduced nucleoside transport. 2 Publications
    VAR_067809

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi31 – 311L → A: Localization at the cell surface; when associated with A-32. 1 Publication
    Mutagenesisi32 – 321L → A: Localization at the cell surface; when associated with A-31. 1 Publication
    Mutagenesisi427 – 4271G → A, F, Y or T: Results in impaired nucleoside transport. 1 Publication

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MalaCardsiSLC29A3.
    MIMi602782. phenotype.
    Orphaneti1782. Dysosteosclerosis.
    168569. H syndrome.
    PharmGKBiPA134950750.

    Polymorphism and mutation databases

    BioMutaiSLC29A3.
    DMDMi313104188.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 475475Equilibrative nucleoside transporter 3PRO_0000209343Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei21 – 211PhosphoserineBy similarity
    Glycosylationi84 – 841N-linked (GlcNAc...)Sequence analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiQ9BZD2.
    PaxDbiQ9BZD2.
    PRIDEiQ9BZD2.

    PTM databases

    iPTMnetiQ9BZD2.
    PhosphoSiteiQ9BZD2.

    Expressioni

    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

    BgeeiQ9BZD2.
    CleanExiHS_SLC29A3.
    GenevisibleiQ9BZD2. HS.

    Organism-specific databases

    HPAiHPA054976.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000362285.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BZD2.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiKOG1479. Eukaryota.
    ENOG410Y3MT. LUCA.
    GeneTreeiENSGT00390000002232.
    HOVERGENiHBG108444.
    InParanoidiQ9BZD2.
    KOiK15014.
    OMAiTANLGFC.
    OrthoDBiEOG7PP56W.
    PhylomeDBiQ9BZD2.
    TreeFamiTF313950.

    Family and domain databases

    InterProiIPR030193. ENT3.
    IPR002259. Eqnu_transpt.
    [Graphical view]
    PANTHERiPTHR10332. PTHR10332. 1 hit.
    PTHR10332:SF17. PTHR10332:SF17. 1 hit.
    PfamiPF01733. Nucleoside_tran. 1 hit.
    [Graphical view]
    PIRSFiPIRSF016379. ENT. 1 hit.
    PRINTSiPR01130. DERENTRNSPRT.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

    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
    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

    Sequence cautioni

    The sequence BAA92041.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti32 – 321L → P in BAG37097 (PubMed:14702039).Curated
    Sequence conflicti112 – 1121T → A in BAA92041 (PubMed:14702039).Curated
    Sequence conflicti306 – 3061A → S in BAG65311 (PubMed:14702039).Curated
    Sequence conflicti370 – 3701Q → R in BAA92041 (PubMed:14702039).Curated
    Sequence conflicti453 – 4531M → I in BAG65311 (PubMed:14702039).Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti18 – 181R → G.1 Publication
    Corresponds to variant rs2277257 [ dbSNP | Ensembl ].
    VAR_018662
    Natural varianti116 – 1161M → R in HLAS; partially retained in the endoplasmic reticulum; results in reduced nucleoside transport. 2 Publications
    VAR_067801
    Natural varianti134 – 1341R → C in HLAS. 1 Publication
    VAR_067802
    Natural varianti158 – 1581S → F.4 Publications
    Corresponds to variant rs780668 [ dbSNP | Ensembl ].
    VAR_018663
    Natural varianti163 – 1631G → V.1 Publication
    Corresponds to variant rs143557881 [ dbSNP | Ensembl ].
    VAR_067803
    Natural varianti184 – 1841S → R in HLAS. 1 Publication
    VAR_067804
    Natural varianti239 – 2391V → I.5 Publications
    Corresponds to variant rs2252996 [ dbSNP | Ensembl ].
    VAR_018664
    Natural varianti281 – 2811L → P.1 Publication
    Corresponds to variant rs79737301 [ dbSNP | Ensembl ].
    VAR_067805
    Natural varianti326 – 3261I → V.5 Publications
    Corresponds to variant rs2487068 [ dbSNP | Ensembl ].
    VAR_018665
    Natural varianti363 – 3631R → Q in HLAS. 2 Publications
    VAR_067806
    Natural varianti363 – 3631R → W in HLAS. 1 Publication
    VAR_067807
    Natural varianti407 – 4071V → M.1 Publication
    Corresponds to variant rs144517514 [ dbSNP | Ensembl ].
    VAR_067808
    Natural varianti427 – 4271G → S in HLAS; almost total loss of nucleoside transport. 3 Publications
    Corresponds to variant rs121912583 [ dbSNP | Ensembl ].
    VAR_057884
    Natural varianti437 – 4371G → R in HLAS; results in reduced nucleoside transport. 7 Publications
    Corresponds to variant rs121912584 [ dbSNP | Ensembl ].
    VAR_057885
    Natural varianti449 – 4491T → R in HLAS; results in reduced nucleoside transport. 2 Publications
    VAR_067809
    Natural varianti452 – 4521V → E.
    Corresponds to variant rs999940 [ dbSNP | Ensembl ].
    VAR_018666

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 146146Missing in isoform 2. 1 PublicationVSP_037436Add
    BLAST

    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, AL359384 Genomic DNA. Translation: CAI13424.1.
    AL359384, AL359183 Genomic DNA. Translation: CAI16088.1.
    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]
    UniGeneiHs.438419.

    Genome annotation databases

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

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    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, AL359384 Genomic DNA. Translation: CAI13424.1.
    AL359384, AL359183 Genomic DNA. Translation: CAI16088.1.
    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]
    UniGeneiHs.438419.

    3D structure databases

    ProteinModelPortaliQ9BZD2.
    ModBaseiSearch...
    MobiDBiSearch...

    Protein-protein interaction databases

    STRINGi9606.ENSP00000362285.

    Protein family/group databases

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

    PTM databases

    iPTMnetiQ9BZD2.
    PhosphoSiteiQ9BZD2.

    Polymorphism and mutation databases

    BioMutaiSLC29A3.
    DMDMi313104188.

    Proteomic databases

    MaxQBiQ9BZD2.
    PaxDbiQ9BZD2.
    PRIDEiQ9BZD2.

    Protocols and materials databases

    Structural Biology KnowledgebaseSearch...

    Genome annotation databases

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

    Organism-specific databases

    CTDi55315.
    GeneCardsiSLC29A3.
    H-InvDBHIX0008903.
    HGNCiHGNC:23096. SLC29A3.
    HPAiHPA054976.
    MalaCardsiSLC29A3.
    MIMi602782. phenotype.
    612373. gene.
    neXtProtiNX_Q9BZD2.
    Orphaneti1782. Dysosteosclerosis.
    168569. H syndrome.
    PharmGKBiPA134950750.
    GenAtlasiSearch...

    Phylogenomic databases

    eggNOGiKOG1479. Eukaryota.
    ENOG410Y3MT. LUCA.
    GeneTreeiENSGT00390000002232.
    HOVERGENiHBG108444.
    InParanoidiQ9BZD2.
    KOiK15014.
    OMAiTANLGFC.
    OrthoDBiEOG7PP56W.
    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

    ChiTaRSiSLC29A3. human.
    GenomeRNAii55315.
    PROiQ9BZD2.
    SOURCEiSearch...

    Gene expression databases

    BgeeiQ9BZD2.
    CleanExiHS_SLC29A3.
    GenevisibleiQ9BZD2. HS.

    Family and domain databases

    InterProiIPR030193. ENT3.
    IPR002259. Eqnu_transpt.
    [Graphical view]
    PANTHERiPTHR10332. PTHR10332. 1 hit.
    PTHR10332:SF17. PTHR10332:SF17. 1 hit.
    PfamiPF01733. Nucleoside_tran. 1 hit.
    [Graphical view]
    PIRSFiPIRSF016379. ENT. 1 hit.
    PRINTSiPR01130. DERENTRNSPRT.
    ProtoNetiSearch...

    Publicationsi

    « Hide 'large scale' publications
    1. "The ENT family of eukaryote nucleoside and nucleobase transporters: recent advances in the investigation of structure/function relationships and the identification of novel isoforms."
      Hyde R.J., Cass C.E., Young J.D., Baldwin S.A.
      Mol. Membr. Biol. 18:53-63(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PHE-158; ILE-239 AND VAL-326.
      Tissue: Placenta.
    2. "Comparative genomic analysis of equilibrative nucleoside transporters suggests conserved protein structure despite limited sequence identity."
      Sankar N., Machado J., Abdulla P., Hilliker A.J., Coe I.R.
      Nucleic Acids Res. 30:4339-4350(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    3. "Expression of human equilibrative nucleoside transporter-3 confers cellular resistance to nucleoside drugs."
      Tse C.-M., Ward J.L., Toan S.-V., Leung G.P.H., To K.K.W.
      Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS PHE-158; ILE-239 AND VAL-326.
      Tissue: Intestine.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLY-18; ILE-239 AND VAL-326.
    5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS PHE-158; ILE-239 AND VAL-326.
      Tissue: Placenta, Skin fibroblast and Uterus.
    6. "The DNA sequence and comparative analysis of human chromosome 10."
      Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
      , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
      Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PHE-158; ILE-239 AND VAL-326.
      Tissue: Eye and Kidney.
    8. "Functional characterization of novel human and mouse equilibrative nucleoside transporters (hENT3 and mENT3) located in intracellular membranes."
      Baldwin S.A., Yao S.Y.M., Hyde R.J., Ng A.M.L., Foppolo S., Barnes K., Ritzel M.W.L., Cass C.E., Young J.D.
      J. Biol. Chem. 280:15880-15887(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF LEU-31 AND LEU-32.
    9. Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Placenta.
    10. "Human equilibrative nucleoside transporter-3 (hENT3) spectrum disorder mutations impair nucleoside transport, protein localization, and stability."
      Kang N., Jun A.H., Bhutia Y.D., Kannan N., Unadkat J.D., Govindarajan R.
      J. Biol. Chem. 285:28343-28352(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-427, CHARACTERIZATION OF VARIANTS HLAS ARG-116; SER-427; ARG-437 AND ARG-449.
    11. Cited for: VARIANTS HLAS SER-427 AND ARG-437.
    12. "SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway."
      Cliffe S.T., Kramer J.M., Hussain K., Robben J.H., de Jong E.K., de Brouwer A.P., Nibbeling E., Kamsteeg E.J., Wong M., Prendiville J., James C., Padidela R., Becknell C., van Bokhoven H., Deen P.M., Hennekam R.C., Lindeman R., Schenck A., Roscioli T., Buckley M.F.
      Hum. Mol. Genet. 18:2257-2265(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HLAS ARG-116; ARG-437 AND ARG-449.
    13. Cited for: VARIANTS HLAS CYS-134 AND ARG-437.
    14. Cited for: VARIANTS HLAS SER-427 AND ARG-437.
    15. Cited for: VARIANTS HLAS ARG-184 AND ARG-437.
    16. Cited for: VARIANTS HLAS TRP-363 AND GLN-363.
    17. "Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease."
      Morgan N.V., Morris M.R., Cangul H., Gleeson D., Straatman-Iwanowska A., Davies N., Keenan S., Pasha S., Rahman F., Gentle D., Vreeswijk M.P., Devilee P., Knowles M.A., Ceylaner S., Trembath R.C., Dalence C., Kismet E., Koseoglu V.
      , Rossbach H.C., Gissen P., Tannahill D., Maher E.R.
      PLoS Genet. 6:E1000833-E1000833(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLAS ARG-437, VARIANTS VAL-163; PRO-281 AND MET-407.
    18. "Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype."
      Jonard L., Couloigner V., Pierrot S., Louha M., Gherbi S., Denoyelle F., Marlin S.
      Eur. J. Med. Genet. 55:56-58(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HLAS GLN-363.

    Entry informationi

    Entry nameiS29A3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BZD2
    Secondary accession number(s): B2RB50
    , B4E2Z9, B7ZA37, Q0VAM9, Q5T465, Q7RTT8, Q8IVZ0, Q9BWI2, Q9NUS9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 24, 2004
    Last sequence update: November 30, 2010
    Last modified: June 8, 2016
    This is version 124 of the entry and version 3 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    Similar proteinsi

    Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
    100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
    90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
    50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.