SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5 [Homo sapiens (human)]
| Gene Symbol | SLC17A5 |
| Entrez Gene ID | 26503 |
| Full Name | solute carrier family 17 (anion/sugar transporter), member 5 |
| Synonyms | AST, FLJ22227, FLJ23268, ISSD, NSD, SD, SIALIN, SIASD, SLD |
| Gene Type | protein-coding |
| Organism | Homo sapiens (human) |
| Genome |
6 6q14-q15 |
| 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]. |
| Disorder | MIM: 604322 Salla disease, 604369 (3); Sialic acid storage disorder, infantile, |
| hsa04142 | Lysosome |
Reactome
| REACT_19397 | Transport of inorganic cations/anions and amino acids/oligopeptides |
| REACT_15518 | Transmembrane transport of small molecules |
| REACT_19372 | Organic anion transporters |
| REACT_19118 | SLC-mediated transmembrane transport |
| Homo sapiens (human) | SLC17A5 | NP_036566.1 |
| Canis lupus familiaris (dog) | SLC17A5 | XP_532204.2 |
| Bos taurus (cattle) | SLC17A5 | XP_608629.2 |
| Mus musculus (house mouse) | Slc17a5 | NP_766361.1 |
| Rattus norvegicus (Norway rat) | Slc17a5 | NP_001009713.1 |
| Gallus gallus (chicken) | SLC17A5 | NP_001026257.1 |
| Danio rerio (zebrafish) | slc17a5 | NP_001070195.1 |
| Drosophila melanogaster (fruit fly) | CG4288 | NP_650889.1 |
| Caenorhabditis elegans | C38C10.2 | NP_499065.1 |
| Arabidopsis thaliana (thale cress) | ANTR2 | NP_567175.2 |
| ID | Name | Evidence |
| GO:0006811 | ion transport | TAS |
| GO:0006820 | anion transport | TAS |
| GO:0015739 | sialic acid transport | IDA |
| GO:0055085 | transmembrane transport | TAS |
Component
| ID | Name | Evidence |
| GO:0005624 | membrane fraction | TAS |
| GO:0005765 | lysosomal membrane | IDA |
| GO:0005765 | lysosomal membrane | TAS |
| GO:0005886 | plasma membrane | IEA |
| GO:0005887 | integral to plasma membrane | TAS |
| GO:0016023 | cytoplasmic membrane-bounded vesicle | IEA |
Function
| ID | Name | Evidence |
| GO:0005351 | sugar:hydrogen symporter activity | TAS |
| GO:0015136 | sialic acid transmembrane transporter activity | IDA |
| GO:0015293 | symporter activity | IEA |
| GO:0015538 | sialic acid:hydrogen symporter activity | TAS |
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