Aliases for SLC35A1 Gene
External Ids for SLC35A1 Gene
Previous GeneCards Identifiers for SLC35A1 Gene
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
GeneCards Summary for SLC35A1 Gene
SLC35A1 (Solute Carrier Family 35 Member A1) is a Protein Coding gene. Diseases associated with SLC35A1 include Congenital Disorder Of Glycosylation, Type Iif and Congenital Disorder Of Glycosylation, Type Ii. Among its related pathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include carbohydrate:proton symporter activity and CMP-N-acetylneuraminate transmembrane transporter activity. An important paralog of this gene is SLC35A2.
UniProtKB/Swiss-Prot Summary for SLC35A1 Gene
Transports CMP-sialic acid from the cytosol into Golgi vesicles where glycosyltransferases function (PubMed:15576474). Efficient CMP-sialic acid uptake depends on the presence of free CMP inside the vesicles, suggesting the proteins functions as an antiporter. Binds both CMP-sialic acid and free CMP, but has higher affinity for free CMP (By similarity).