Property Summary

NCBI Gene PubMed Count 21
Grant Count 13
R01 Count 13
Funding $3,891,481
PubMed Score 30.93
PubTator Score 11.48

Knowledge Summary

Patent

No data available

Expression

Gene RIF (6)

PMID Text
25552652 SLC35A1-deficient cells lack of alpha-dystroglycan O-mannosylation, ligand binding and incorporation of sialic acids.
23873973 We confirm an autosomal recessive, generalized sialylation defect due to mutations in SLC35A1
16923816 CMP-sialic acid transporter is localized in the medial-trans Golgi
16343442 this study, we introduced two critical genes encoding human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter into tobacco suspension-cultured cell to pave a route for sialic biosynthetic pathway.
15576474 this defect is a new type of congenital disorder of glycosylation (CDG) of type IIf affecting the transport of CMP-sialic acid into the Golgi apparatus.
12682060 substrate binding specificity

AA Sequence

MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSL      1 - 70
GRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMAFLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTL     71 - 140
SKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAGVYFEKVLKSSDTSLWVRN    141 - 210
IQMYLSGIIVTLAGVYLSDGAEIKEKGFFYGYTYYVWFVIFLASVGGLYTSVVVKYTDNIMKGFSAAAAI    211 - 280
VLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV                 281 - 337
//

Text Mined References (20)

PMID Year Title
25552652 2015 Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal ?-dystroglycan O-mannosylation, independent from sialic acid.
23873973 2013 Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16923816 2006 The CMP-sialic acid transporter is localized in the medial-trans Golgi and possesses two specific endoplasmic reticulum export motifs in its carboxyl-terminal cytoplasmic tail.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16343442 2006 Expression of human CMP-N-acetylneuraminic acid synthetase and CMP-sialic acid transporter in tobacco suspension-cultured cell.
15576474 2005 Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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