8dwi

Structural highlights

Disease

S17A5_HUMAN Free sialic acid storage disease, infantile form;Salla disease;Intermediate severe Salla disease. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.

Function

S17A5_HUMAN Transports glucuronic acid and free sialic acid out of the lysosome after it is cleaved from sialoglycoconjugates undergoing degradation, this is required for normal CNS myelination. Mediates aspartate and glutamate membrane potential-dependent uptake into synaptic vesicles and synaptic-like microvesicles. Also functions as an electrogenic 2NO(3)(-)/H(+) cotransporter in the plasma membrane of salivary gland acinar cells, mediating the physiological nitrate efflux, 25% of the circulating nitrate ions is typically removed and secreted in saliva.^{[1] [2] [3] [4] [5]}

References

1. ↑ Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Nat Genet. 1999 Dec;23(4):462-5. doi: 10.1038/70585. PMID:10581036 doi:http://dx.doi.org/10.1038/70585
2. ↑ Fu C, Bardhan S, Cetateanu ND, Wamil BD, Wang Y, Yan HP, Shi E, Carter C, Venkov C, Yakes FM, Page DL, Lloyd RS, Mernaugh RL, Hellerqvist CG. Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis. Clin Cancer Res. 2001 Dec;7(12):4182-94. PMID:11751519
3. ↑ Morin P, Sagne C, Gasnier B. Functional characterization of wild-type and mutant human sialin. EMBO J. 2004 Nov 24;23(23):4560-70. doi: 10.1038/sj.emboj.7600464. Epub 2004 Oct , 28. PMID:15510212 doi:http://dx.doi.org/10.1038/sj.emboj.7600464
4. ↑ Miyaji T, Omote H, Moriyama Y. Functional characterization of vesicular excitatory amino acid transport by human sialin. J Neurochem. 2011 Oct;119(1):1-5. doi: 10.1111/j.1471-4159.2011.07388.x. Epub , 2011 Aug 22. PMID:21781115 doi:http://dx.doi.org/10.1111/j.1471-4159.2011.07388.x
5. ↑ Qin L, Liu X, Sun Q, Fan Z, Xia D, Ding G, Ong HL, Adams D, Gahl WA, Zheng C, Qi S, Jin L, Zhang C, Gu L, He J, Deng D, Ambudkar IS, Wang S. Sialin (SLC17A5) functions as a nitrate transporter in the plasma membrane. Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13434-9. doi: , 10.1073/pnas.1116633109. Epub 2012 Jul 9. PMID:22778404 doi:http://dx.doi.org/10.1073/pnas.1116633109