BioPAX pathway converted from "Defective SLC35A1 does not exchange CMP-Neu5Ac for CMP" in the Reactome database.Defective SLC35A1 does not exchange CMP-Neu5Ac for CMPDefective SLC35A1 does not exchange CMP-Neu5Ac for CMPThe 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), characterised by under-glycosylated serum proteins. CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. These multisystem disorders present with a wide spectrum of phenotypes such as disorders of nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders and immunodeficiency. A loss-of-function mutation causing CDG2F is V93Cfs*17 (Martinez-Duncker et al. 2005).Authored: Jassal, Bijay, 2014-11-26Reviewed: Broer, Stefan, 2015-08-04Edited: Jassal, Bijay, 2014-11-26Reactome DB_ID: 7278101Golgi lumenGO0005796cytidine 5'-monophosphate [ChEBI:17361]cytidine 5'-monophosphateReactomehttp://www.reactome.orgChEBI17361Reactome DB_ID: 40854351cytosolGO0005829CMP-N-acetyl-beta-neuraminic acid [ChEBI:16556]CMP-N-acetyl-beta-neuraminic acidChEBI16556PHYSIOL-LEFT-TO-RIGHTACTIVATIONReactome DB_ID: 5651957Golgi membraneGO0000139UniProt:P78382 SLC35A1SLC35A1SLC35A1FUNCTION 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).SUBUNIT Monomer.SIMILARITY Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.Homo sapiensNCBI Taxonomy9606UniProtP78382Replacement of residues 93 to 108 by CIVSVCCSEQHGFPSSChain Coordinates1EQUAL108EQUALGO0005456GO molecular functionReactome Database ID Release 759631955Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=9631955Reactome Database ID Release 755651942Database identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser?DB=gk_current&ID=5651942ReactomeR-HSA-56519422Reactome stable identifier. Use this URL to connect to the web page of this instance in Reactome: http://www.reactome.org/cgi-bin/eventbrowser_st_id?ST_ID=R-HSA-5651942.215576474Pubmed2005Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporterMartinez-Duncker, IDupré, TPiller, VPiller, FCandelier, JJTrichet, CTchernia, GOriol, RMollicone, RBlood 105:2671-6