InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SLC17A5

Summary

InnateDB Protein

IDBP-92540.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SLC17A5

Protein Name

solute carrier family 17 (anion/sugar transporter), member 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000348019

InnateDB Gene

IDBG-92538 (SLC17A5)

Protein Structure

UniProt Annotation

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:0000269PubMed:10581036, ECO:0000269PubMed:11751519, ECO:0000269PubMed:15510212, ECO:0000269PubMed:21781115, ECO:0000269PubMed:22778404}.

Subcellular Localization

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

Disease Associations

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:0000269PubMed:10581036, ECO:0000269PubMed:10947946, ECO:0000269PubMed:12794687, ECO:0000269PubMed:21781115}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:10581036, ECO:0000269PubMed:10947946}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

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:0000269PubMed:10581036, ECO:0000269PubMed:11751519}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	2 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005351	sugar:proton symporter activity
GO:0015136	sialic acid transmembrane transporter activity

Biological Process

GO:0006811	ion transport
GO:0006820	anion transport
GO:0006865	amino acid transport
GO:0015739	sialic acid transport
GO:0015992	proton transport
GO:0055085	transmembrane transport

Cellular Component

GO:0005737	cytoplasm
GO:0005764	lysosome
GO:0005765	lysosomal membrane
GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016023	cytoplasmic membrane-bounded vesicle
GO:0030054	cell junction
GO:0030672	synaptic vesicle membrane

Protein Structure and Domains

PDB ID

InterPro

IPR011701 Major facilitator superfamily
IPR016196 Major facilitator superfamily domain, general substrate transporter
IPR020846 Major facilitator superfamily domain

PFAM

PF07690

PRINTS

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9NRA2

PhosphoSite