NP_060814
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
35,502 Da
NCBI Official Full Name
equilibrative nucleoside transporter 3 isoform a
NCBI Official Synonym Full Names
solute carrier family 29 (equilibrative nucleoside transporter), member 3
NCBI Protein Information
equilibrative nucleoside transporter 3; solute carrier family 29 (nucleoside transporters), member 3
UniProt Protein Name
Equilibrative nucleoside transporter 3
UniProt Synonym Protein Names
Solute carrier family 29 member 3
UniProt Synonym Gene Names
UniProt Entry Name
S29A3_HUMAN
NCBI Summary for SLC29A3
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]
UniProt Comments for SLC29A3
SLC29A3: 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. Defects in SLC29A3 are the cause of histiocytosis- lymphadenopathy plus syndrome (HLAS). 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. Belongs to the SLC29A/ENT transporter (TC 2.A.57) family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Transporter, SLC family; Membrane protein, integral; Membrane protein, multi-pass; Transporter
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: late endosome membrane; lysosomal membrane; integral to membrane
Molecular Function: nucleoside transmembrane transporter activity
Biological Process: transmembrane transport
Disease: Histiocytosis-lymphadenopathy Plus Syndrome
Research Articles on SLC29A3
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with SLC29A3 blocking peptide
Diseases associated with SLC29A3 blocking peptide
Organs/Tissues associated with SLC29A3 blocking peptide
|