SLC28A1
Function
Sodium and pyrimidine nucleoside symporter of the plasma membrane that imports uridine, thymidine and cytidine into cells by coupling their transport to the transmembrane sodium electrochemical gradient. Also transports adenosine, an atypical substrate transported with high apparent affinity, but low maximum velocity. Therefore, exhibits the transport characteristics of the nucleoside transport system cit or N2 subtype (N2/cit) (PubMed:10455109, PubMed:14701834, PubMed:15194733, PubMed:21795683, PubMed:21998139, PubMed:30658162, PubMed:32126230, PubMed:9124315). Involved in renal nucleoside (re)absorption (PubMed:30658162).
Involvement in disease
Uridine-cytidineuria
URCTU
An autosomal recessive inborn error of metabolism characterized by increased urinary uridine and cytidine excretion. It is a likely benign metabolic trait without clinical manifestations.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
N-glycosylated. N-glycosylation is required for localization to the plasma membrane and the transporter activity.
Sequence Similarities
Belongs to the concentrative nucleoside transporter (CNT) (TC 2.A.41) family.
Tissue Specificity
Expressed in kidney.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Apical cell membrane
- Multi-pass membrane protein
Alternative names
CNT1, SLC28A1, Sodium/nucleoside cotransporter 1, Concentrative nucleoside transporter 1, Na(+)/nucleoside cotransporter 1, Sodium-coupled nucleoside transporter 1, Solute carrier family 28 member 1, CNT 1, hCNT1