Reactome | SLC17A5 cotransports Neu5Ac, H+ from lysosomal lumen to cytosol

SLC17A5 cotransports Neu5Ac, H+ from lysosomal lumen to cytosol

Stable Identifier

R-HSA-428585

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal membrane, cytosol, lysosomal lumen

Synonyms

Proton-coupled sialic acid co-transport

ReviewStatus

5/5

Locations in the PathwayBrowser

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Metabolism of proteins (Homo sapiens)

- Post-translational protein modification (Homo sapiens)
  - Asparagine N-linked glycosylation (Homo sapiens)
    - Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein (Homo sapiens)
      - Synthesis of substrates in N-glycan biosythesis (Homo sapiens)
        
        Sialic acid metabolism (Homo sapiens)
        
        SLC17A5 cotransports Neu5Ac, H+ from lysosomal lumen to cytosol (Homo sapiens)

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SLC17A5 cotransports Neu5Ac, H+ from lysosomal lumen to cytosol

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SLC17A5 encodes a lysosomal sialic acid transporter, Sialin (AST, membrane glycoprotein HP59) (Verheijen et al. 1999, Fu et al. 2001). SLC17A5 exports sialic acid (N-acetylneuraminic acid, Neu5Ac) which is derived from the degradation of glycoconjugates. This export is dependent on the proton electrochemical gradient across the lysosomal membrane. SLC17A5 is present in the pathological tumor vasculature of the lung, breast, colon, and ovary, but not in the normal vasculature, suggesting that the protein may be critical to pathological angiogenesis. Sialin is not expressed in a variety of normal tissues, but is significantly expressed in human fetal lung. Defects in SLC17A5 cause Salla disease (SD) and infantile sialic acid storage disorder (ISSD aka N-acetylneuraminic acid storage disease, NSD). These belong to the sialic acid storage disease (SASD) group and are autosomal recessive neurodegenerative disorders characterised by hypotonia, cerebellar ataxia and mental retardation in very young infants (Verheijen et al. 1999, Aula et al. 2000).

Literature References

PubMed ID	Title	Journal	Year
10581036	A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases Peltonen, Leena, van der Spek, PJ, Verbeek, E, Joosse, M, Galjaard, H, Aula, P, Aula, N, Havelaar, AC, Verheijen, FW, Mancini, GM, Beerens, CE	Nat Genet	1999
11751519	Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis Shi, E, Lloyd, RS, Yakes, FM, Hellerqvist, CG, Bardhan, S, Page, DL, Carter, C, Mernaugh, RL, Yan, HP, Wang, Y, Cetateanu, ND, Venkov, C, Fu, C, Wamil, BD	Clin Cancer Res	2001
10947946	The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation Peltonen, Leena, Mancini, G, Månsson, JE, Aula, P, Aula, N, Timonen, R, Verheijen, F, Salomäki, P	Am J Hum Genet	2000