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MGP004856

UniProt Annotations

Entry Information

Gene Name	solute carrier family 17 (acidic sugar transporter), member 5
Protein Entry	S17A5_HUMAN
UniProt ID	Q9NRA2
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9NRA2-1; Sequence=Displayed; Name=2; IsoId=Q9NRA2-2; Sequence=VSP_010482, VSP_010483;
Disease	Infantile sialic acid storage disorder (ISSD) [MIM:269920]: Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years. {ECO:0000269\|PubMed:10581036, ECO:0000269\|PubMed:10947946}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=Infantile sialic acid storage disorder is associated with non-immune hydrops fetalis, a generalized edema of the fetus with fluid accumulation in the body cavities due to non-immune causes. Non-immune hydrops fetalis is not a diagnosis in itself but a symptom, a feature of many genetic disorders, and the end- stage of a wide variety of disorders.
Disease	Salla disease (SD) [MIM:604369]: Sialic acid storage disease (SASD). SASDs are autosomal recessive neurodegenerative disorders characterized by hypotonia, cerebellar ataxia and mental retardation. They are caused by a defect in the metabolism of sialic acid which results in increased urinary excretion of unconjugated sialic acid, specifically N-acetylneuraminic acid. Enlarged lysosomes are seen on electron microscopic studies. Clinical symptoms of SD present usually at age less than 1 year and progression is slow. {ECO:0000269\|PubMed:10581036, ECO:0000269\|PubMed:10947946, ECO:0000269\|PubMed:12794687, ECO:0000269\|PubMed:21781115}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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. {ECO:0000269\|PubMed:10581036, ECO:0000269\|PubMed:11751519, ECO:0000269\|PubMed:15510212, ECO:0000269\|PubMed:21781115, ECO:0000269\|PubMed:22778404}.
Sequence Caution	Sequence=AAF97769.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Similarity	Belongs to the major facilitator superfamily. Sodium/anion cotransporter family. {ECO:0000305}.
Subcellular Location	Cell membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane. Lysosome membrane; Multi-pass membrane protein.
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 endothelial cells from the corresponding normal tissues. {ECO:0000269\|PubMed:10581036, ECO:0000269\|PubMed:11751519}.