SLC35A1 exchanges CMP-Neu5Ac for CMP

Stable Identifier
R-HSA-727807
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
SLC35A1 mediates the antiport of CMP-sialic acid in exchange for CMP
ReviewStatus
5/5
Locations in the PathwayBrowser
General
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The human gene SLC35A1 encodes the CMP-sialic acid transporter which mediates the antiport of CMP-sialic acid (CMP-Neu5Ac) into the Golgi lumen in exchange for CMP (Ishida et al. 1996). Defects in SLC35A1 are the cause of congenital disorder of glycosylation type 2F (CDG2F; MIM:603585). CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation (Martinez-Duncker et al. 2005).
Literature References
PubMed ID Title Journal Year
15576474 Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter

Mollicone, R, Tchernia, G, Trichet, C, Dupré, T, Oriol, R, Candelier, JJ, Piller, V, Piller, F, Martinez-Duncker, I

Blood 2005
9010752 Molecular cloning and characterization of a novel isoform of the human UDP-galactose transporter, and of related complementary DNAs belonging to the nucleotide-sugar transporter gene family

Ishida, N, Miura, N, Kawakita, M, Yoshioka, S

J Biochem 1996
Participants
Participates
Catalyst Activity

CMP-N-acetylneuraminate transmembrane transporter activity of SLC35A1 [Golgi membrane]

Orthologous Events
Cross References
Rhea
Authored
Reviewed
Created
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