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2.A.7.12.11
Golgi CMP-sialic acid:CMP exchange transporter. Used for glycosylation within the Golgi lumen. Amino acid residues important for CMP-sialic acid recognition have been identified (Takeshima-Futagami et al., 2012).  Loss of function results in ataxia, intellectual disability, and seizures, in combination with bleeding diathesis and proteinuria (Mohamed et al. 2013).  SLC35A1 and SLC35C1, have been related to congenital disorder of glycosylation II (CDG II) (Song 2013). The loss of the sialic acid transporter SLC35A1/CST and the zinc transporter SLC30A1/ZnT1 (TC# 2.A.4.2.6) affected cell survival upon infection with cytolytic vesicular stomatitis virus (VSV). Both of these transporters seem to play a role in the apoptotic response induced by VSV (Moskovskich et al. 2019). Inherited thrombocytopenia can be caused by variants in crucial genes for glycosylation including that for SLC35A1 (Marín-Quílez et al. 2023).

Accession Number:P78382
Protein Name:CMP-sialic acid transporter
Length:337
Molecular Weight:36779.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:10
Location1 / Topology2 / Orientation3: Golgi apparatus membrane1 / Multi-pass membrane protein2
Substrate cytidine 5'-monophosphate, CMP-N-acetyl-beta-neuraminic acid

Cross database links:

RefSeq: NP_001161870.1    NP_006407.1   
Entrez Gene ID: 10559   
Pfam: PF04142   
OMIM: 603585  phenotype
605634  gene
KEGG: hsa:10559   

Gene Ontology

GO:0000139 C:Golgi membrane
GO:0005887 C:integral to plasma membrane
GO:0005456 F:CMP-sialic acid transmembrane transporter a...
GO:0005351 F:sugar:hydrogen symporter activity
GO:0005975 P:carbohydrate metabolic process
GO:0015782 P:CMP-sialic acid transport
GO:0006464 P:protein modification process
GO:0005456 F:CMP-N-acetylneuraminate transmembrane transporter activity
GO:0006464 P:cellular protein modification process

References (8)

[1] “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.et.al.   9010752
[2] “The DNA sequence and analysis of human chromosome 6.”  Mungall A.J.et.al.   14574404
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.”  Martinez-Duncker I.et.al.   15576474
[5] “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.et.al.   9010752
[6] “Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.”  Martinez-Duncker I.et.al.   15576474
[7] “The DNA sequence and analysis of human chromosome 6.”  Mungall A.J.et.al.   14574404
[8] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334

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FASTA formatted sequence 
1:	MAAPRDNVTL LFKLYCLAVM TLMAAVYTIA LRYTRTSDKE LYFSTTAVCI TEVIKLLLSV 
61:	GILAKETGSL GRFKASLREN VLGSPKELLK LSVPSLVYAV QNNMAFLALS NLDAAVYQVT 
121:	YQLKIPCTAL CTVLMLNRTL SKLQWVSVFM LCAGVTLVQW KPAQATKVVV EQNPLLGFGA 
181:	IAIAVLCSGF AGVYFEKVLK SSDTSLWVRN IQMYLSGIIV TLAGVYLSDG AEIKEKGFFY 
241:	GYTYYVWFVI FLASVGGLYT SVVVKYTDNI MKGFSAAAAI VLSTIASVML FGLQITLTFA 
301:	LGTLLVCVSI YLYGLPRQDT TSIQQGETAS KERVIGV