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  4. Recombinant Human Equilibrative nucleoside transporter 3 (SLC29A3), partial

Recombinant Human Equilibrative nucleoside transporter 3 (SLC29A3), partial

  • 中文名称：
    人SLC29A3重组蛋白
  • 货号：
    CSB-YP880146HU
  • 规格：
  • 来源：
    Yeast
  • 其他：
  • 中文名称：
    人SLC29A3重组蛋白
  • 货号：
    CSB-EP880146HU
  • 规格：
  • 来源：
    E.coli
  • 其他：
  • 中文名称：
    人SLC29A3重组蛋白
  • 货号：
    CSB-EP880146HU-B
  • 规格：
  • 来源：
    E.coli
  • 共轭：
    Avi-tag Biotinylated

    E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.

  • 其他：
  • 中文名称：
    人SLC29A3重组蛋白
  • 货号：
    CSB-BP880146HU
  • 规格：
  • 来源：
    Baculovirus
  • 其他：
  • 中文名称：
    人SLC29A3重组蛋白
  • 货号：
    CSB-MP880146HU
  • 规格：
  • 来源：
    Mammalian cell
  • 其他：

产品详情

  • 纯度：
    >85% (SDS-PAGE)
  • 基因名：
    SLC29A3
  • Uniprot No.：
  • 别名：
    ENT3; Equilibrative nucleoside transporter 3; HCLAP; hENT3; HJCD; PHID; S29A3_HUMAN; SLC29A3; Solute carrier family 29 (equilibrative nucleoside transporter) member 3; Solute carrier family 29 (nucleoside transporters) member 3; Solute carrier family 29 member 3
  • 种属：
    Homo sapiens (Human)
  • 蛋白长度：
    Partial
  • 蛋白标签：
    Tag type will be determined during the manufacturing process.
    The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
  • 产品提供形式：
    Lyophilized powder
    Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
  • 复溶：
    We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
  • 储存条件：
    Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
  • 保质期：
    The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
    Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
  • 货期：
    Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
    Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
  • 注意事项：
    Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
  • Datasheet ：
    Please contact us to get it.

产品评价

靶点详情

  • 功能：
    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.
  • 基因功能参考文献：
    1. Study in Tunisian patients extends the mutation spectrum of H syndrome by reporting a novel frame-shift mutation, the p.S15Pfs*86 in exon 2 of SLC29A3 gene. PMID: 29808591
    2. 225D and 231L in the N-terminal half of hENT3 partially contribute to the ability of hENT3 to transport AZT and DDI. PMID: 29530865
    3. In a patient with H syndrome, a compound heterozygous alteration in the SLC29A3 gene was found. Her parents each had one of the mutations. The c.243delA frameshift mutation leading to a premature termination, resulting in a truncated protein, and a splice site mutation c.300+1G>C predicted to cause a splicing error. Patients with similar mutations are reviewed. PMID: 27316388
    4. The results suggest a putative pH-sensing role for Asp-219 and Glu-447 in hENT3 and that the size, ionization state, or electronegative polarity at these positions is crucial for obligate acidic pH-dependent activity. PMID: 28729424
    5. A homozygous c.1339G>A (p.Glu447Lys) mutation in the SLC29A3 gene. PMID: 28554179
    6. novel mutation c.401G>A associated with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome PMID: 24894595
    7. SLC29A3 genetic polymorphisms may have a role in overall survival in advanced non-small-cell lung cancer treated with gemcitabine PMID: 24535606
    8. Mutation analysis of the SLC29A3 gene revealed a novel nonsense mutation in H syndrome with agenesis of the inferior vena cava. PMID: 23406517
    9. Homozygous mutation in SLC29A3 in 2 children of consanguineous parents exhibit H syndrome: insulin-dependent diabetes, hyperpigmentation, hepatosplenomegaly, lymphadenopathy, left ventricular hypertrophy, sensorineural hearing loss. [CASE REPORT] PMID: 22989030
    10. we describe two unrelated children with DSS associated with autosomal recessive inheritance of variants in SLC29A3. PMID: 22875837
    11. Two novel mutations in the SLC29A3 gene were identified: a homozygous splice site mutation IVS1+2T>1 G, and a homozygous missense mutation c.1157G>1 A (p.R386Q) which substituted highly conserved amino acid residue in a transmembrane domain. PMID: 22653152
    12. The 'rescue' role played by a normally noncoding mRNA splice variant of SLC29A3, uncovering a new mechanism by which frameshift mutations can be hypomorphic. PMID: 22238637
    13. severe reductions/losses of hENT3 nucleoside transport functions of hENT3 syndrome mutants PMID: 20595384
    14. The genotype (CC, TC, IT) and allele distribution of the ENT3 single nudcleotide polymorphism in the patients with lung cancer was not significantly different compared with that in controls (P > 0.05). PMID: 20677642
    15. Mutation analysis showed that both parents and one of the three siblings were heterozygous for the mutation and that the mutation was absent in the remaining two siblings as well as in 100 normal control samples from the same ethnic population. PMID: 20199539
    16. analysis of two novel mutations affecting the same amino acid residue of hENT3 in H syndrome [case report] PMID: 19889517
    17. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the Faisalabad histiocytosis kindred and in two families reported to have familial Rosai-Dorfman disease. PMID: 20140240
    18. broad selectivity, low affinity nucleoside transporter that can also transport adenine PMID: 15701636
    19. H syndrome is caused by mutations in the nucleoside transporter hENT3 PMID: 18940313
    20. These data suggest that cellular localization of hENT3 is cell type dependent and the native transporter is substantially expressed in mitochondria and/or cell surface. PMID: 19164483
    21. Five loss-of-function mutations were identified in the SLC29A3 gene in patients with pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. PMID: 19336477
    22. Data show that SLC29A3 is expressed in the islet and recessive mutations are likely to result in beta cell failure. PMID: 19581757

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  • 相关疾病：
    Histiocytosis-lymphadenopathy plus syndrome (HLAS)
  • 亚细胞定位：
    Membrane; Multi-pass membrane protein. Late endosome membrane. Lysosome membrane. Note=Observed in a punctate intracellular pattern showing partial colocalization with late endosomes/lysosomes. Not detected at the cell surface.
  • 蛋白家族：
    SLC29A/ENT transporter (TC 2.A.57) family
  • 组织特异性：
    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.
  • 数据库链接：

    HGNC: 23096

    OMIM: 602782

    KEGG: hsa:55315

    STRING: 9606.ENSP00000362285

    UniGene: Hs.438419