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SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5 [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_012434 Homo sapiens solute carrier family 17 (acidic sugar transporter), member 5 (SLC17A5), mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005248710 PREDICTED: Homo sapiens solute carrier family 17 (acidic sugar transporter), member 5 (SLC17A5), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_005248711 PREDICTED: Homo sapiens solute carrier family 17 (acidic sugar transporter), member 5 (SLC17A5), transcript variant X2, mRNA. GenEZ ORF Cloning On-demand $699.00 18
XM_006715459 PREDICTED: Homo sapiens solute carrier family 17 (acidic sugar transporter), member 5 (SLC17A5), transcript variant X3, mRNA. GenEZ ORF Cloning On-demand $699.00 18

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Gene Symbol SLC17A5
Entrez Gene ID 26503
Full Name solute carrier family 17 (acidic sugar transporter), member 5
Synonyms AST, ISSD, NSD, SD, SIALIN, SIASD, SLD
General protein information
Preferred Names
sialin
Names
sialin
H(+)/nitrate cotransporter
membrane glycoprotein HP59
sialic acid storage disease
H(+)/sialic acid cotransporter
sodium/sialic acid cotransporter
solute carrier family 17 member 5
solute carrier family 17, member 5
vesicular H(+)/Aspartate-glutamate cotransporter
solute carrier family 17 (anion/sugar transporter), member 5
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

6

6q13

Summary 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. [provided by RefSeq, Jul 2008].
Disorder

MIM: 604322

Salla disease, 604369 (3); Sialic acid storage disorder, infantile,

mRNA Protein Product Sequence Price Select
NM_012434, 170650707 NP_036566, 6912666 sialin ORF Sequence $550.00
XM_005248710, 530383123 XP_005248767, 530383124 sialin isoform X1 ORF Sequence $550.00
XM_005248711, 530383125 XP_005248768, 530383126 sialin isoform X2 ORF Sequence $550.00
XM_006715459, 578812689 XP_006715522, 578812690 sialin isoform X3 ORF Sequence $550.00
KEGG
hsa04142Lysosome
Reactome
REACT_19118SLC-mediated transmembrane transport
REACT_19372Organic anion transporters
REACT_19397Transport of inorganic cations/anions and amino acids/oligopeptides
REACT_17015Metabolism of proteins
REACT_15518Transmembrane transport of small molecules
REACT_22161Post-translational protein modification
REACT_22426Asparagine N-linked glycosylation
REACT_22433Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
REACT_22387Synthesis of substrates in N-glycan biosythesis
REACT_200874Sialic acid metabolism
Homo sapiens (human)SLC17A5NP_036566.1
Pan troglodytes (chimpanzee)SLC17A5XP_003311453.1
Macaca mulatta (Rhesus monkey)SLC17A5XP_001112868.1
Canis lupus familiaris (dog)SLC17A5XP_005627590.1
Bos taurus (cattle)SLC17A5NP_001192903.1
Mus musculus (house mouse)Slc17a5NP_766361.1
Rattus norvegicus (Norway rat)Slc17a5NP_001009713.1
Gallus gallus (chicken)SLC17A5NP_001026257.1
Danio rerio (zebrafish)slc17a5NP_001070195.1
Drosophila melanogaster (fruit fly)MFS10NP_572857.1
Caenorhabditis elegansC38C10.2NP_499065.1
Xenopus (Silurana) tropicalis (western clawed frog)slc17a5NP_001072823.1
Process
IDNameEvidence
GO:0006811ion transportTAS
GO:0006820anion transportTAS
GO:0006865amino acid transportIEA
GO:0015739sialic acid transportIDA
GO:0015992proton transportTAS
GO:0055085transmembrane transportTAS
Component
IDNameEvidence
GO:0005737cytoplasmIDA
GO:0005765lysosomal membraneIDA
GO:0005765lysosomal membraneTAS
GO:0005886plasma membraneIDA
GO:0005887integral component of plasma membraneTAS
GO:0016020membraneTAS
GO:0030054cell junctionIEA
GO:0030672synaptic vesicle membraneIEA
Function
IDNameEvidence
GO:0005351sugar:proton symporter activityTAS
GO:0015136sialic acid transmembrane transporter activityIDA
GeneCards SLC17A5
UniProt Q9NRA2
Vega OTTHUMG00000015039
MIM 604322
Ensembl ENSG00000119899
HGNC 10933
HPRD 05058

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SLC17A5 gene?

The SLC17A5 gene provides instructions for producing a protein called sialin that is located mainly on the membranes of lysosomes, compartments in the cell that digest and recycle materials. Sialin moves a molecule called free sialic acid, which is produced when certain proteins and fats are broken down, out of the lysosomes to other parts of the cell. Free sialic acid means that the sialic acid is not attached (bound) to other molecules.

Researchers believe that sialin may also have other functions in brain cells, in addition to those associated with the lysosomes, but these additional functions are not well understood.

Interactant

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