Equilibrative nucleoside transporter 3;
hENT3;
Solute carrier family 29 member 3;
ENT3.
Cat:
SL21250R
Species Reactivity：
(predicted: Human,)
Immunogen：
KLH conjugated synthetic peptide derived from human SLC29A3:1-100/475<Cytoplasmic>
Format：
Liquid
Storage instructions：
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration：
1mg/ml
Clonality：
Polyclonal
Isotype：
IgG
Applications：
WB=1:500-2000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]
Function: 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.
Tissue Specificity: 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.
DISEASE: The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A 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.
Similarity: Belongs to the SLC29A/ENT transporter (TC 2.A.57) family.
SWISS: Q9BZD2
Gene ID: 55315
Database links:
Entrez
Gene: 55315 Human
Entrez Gene: 71279 Mouse
Entrez Gene: 353307 Rat
Omim: 612373 Human
SwissProt: Q9BZD2 Human
SwissProt: Q99P65 Mouse
SwissProt: Q80WK7 Rat
Unigene: 438419 Human
Unigene: 284462 Mouse
Unigene: 15870 Rat
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Specific References (1) | SL21250R has been referenced in 1 publications.
[IF=4.183] Zhu Y et al. Protein Expression Profile in Rat Silicosis Model Reveals Upregulation of PTPN2 and Its Inhibitory Effect on Epithelial-Mesenchymal Transition by Dephosphorylation of STAT3. Int J Mol Sci. 2020 Feb 11;21(4). WB ; Rat&Mouse.
