Recombinant Human Sialin (SLC17A5), Truncated

Uniprot Id

Q9NRA2

Target Species

Human

Target Name

SLC17A5

Target Full Name

Sialin

Target Function

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.

Target Involvement

Salla disease (SD); Infantile sialic acid storage disorder (ISSD)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein.

Target Protein Families

Major facilitator superfamily, Sodium/anion cotransporter family

Target Tissue Specificity

Found in fetal lung and small intestine, and at lower level in fetal skin and muscle. In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endotheli

Target Synonyms

AST; H(+)/nitrate cotransporter; H(+)/sialic acid cotransporter; ISSD; Membrane glycoprotein HP59; NSD; S17A5_HUMAN; SD; Sialic acid storage disease; Sialin; SIASD; Slc17a5; SLD; Solute carrier family 17 (anion/sugar transportermember 5; Solute carrier family 17 member 5; Vesicular H(+)/Aspartate-glutamate cotransporter

Target Background

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form.