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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]
SLC17A5 (Solute Carrier Family 17 Member 5) is a Protein Coding gene. Diseases associated with SLC17A5 include Salla Disease and Infantile Sialic Acid Storage Disease. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Lysosome. Gene Ontology (GO) annotations related to this gene include carbohydrate:proton symporter activity and sialic acid transmembrane transporter activity. An important paralog of this gene is SLC17A6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005351 | carbohydrate:proton symporter activity | TAS | 10581036 |
GO:0015136 | sialic acid transmembrane transporter activity | IBA,IDA | 10581036 |
GO:0015293 | symporter activity | IEA | -- |
GO:0015538 | sialic acid:proton symporter activity | TAS | -- |
GO:0022857 | transmembrane transporter activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IBA | 21873635 |
GO:0005765 | lysosomal membrane | IDA,TAS | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IEA,IDA | -- |
GO:0005887 | integral component of plasma membrane | TAS | 10581036 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | TAS | -- |
GO:0006820 | anion transport | TAS,IBA | 21873635 |
GO:0006865 | amino acid transport | IEA | -- |
GO:0009617 | response to bacterium | IEA | -- |
GO:0015739 | sialic acid transport | IBA,IDA | 10581036 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC17A5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC17A5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC17A5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Slc17a5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc17a5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | SLC17A5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC17A5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC17A5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc17a5 30 |
|
||
Str.9993 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16355 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc17a5 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | MFS10 30 |
|
||
CG4288 32 |
|
|
|||
Picot 32 |
|
|
|||
CG4330 32 |
|
|
|||
BG:DS07660.1 32 |
|
|
|||
CG6978 32 |
|
|
|||
CG15094 32 |
|
|
|||
CG3036 32 |
|
|
|||
CG4726 32 |
|
|
|||
CG9864 32 |
|
|
|||
l(2)08717 32 |
|
|
|||
CG8791 32 |
|
|
|||
CG15096 32 |
|
|
|||
CG9825 32 |
|
|
|||
CG9826 32 |
|
|
|||
NaPi-T 32 |
|
|
|||
CG7881 32 |
|
|
|||
CG30265 32 |
|
|
|||
CG30272 32 |
|
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CG2003 32 |
|
|
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CG3649 32 |
|
|
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BEST:CK02623 32 |
|
|
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Worm (Caenorhabditis elegans) |
Secernentea | C38C10.2 30 32 |
|
||
ZK54.1 32 |
|
|
|||
F25G6.7 32 |
|
|
|||
T19D12.9 32 |
|
|
|||
T27D12.1 32 |
|
|
|||
F44E7.7 32 |
|
|
|||
T09B9.2 32 |
|
|
|||
ZK682.2 32 |
|
|
|||
C02C2.4 32 |
|
|
|||
F12B6.2a 32 |
|
|
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F12B6.2b 32 |
|
|
|||
F12B6.2c 32 |
|
|
|||
F45E4.11 32 |
|
|
|||
K10H10.1 32 |
|
|
|||
R10D12.1 32 |
|
|
|||
F21F8.11 32 |
|
|
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
644884 | Pathogenic: Salla disease | 73,644,477(-) | A/T | NONSENSE | |
672021 | Benign: not provided | 73,615,178(-) | T/C | INTRON_VARIANT | |
672060 | Benign: not provided | 73,641,374(-) | C/T | INTRON_VARIANT | |
672061 | Benign: not provided | 73,636,449(-) | C/T | INTRON_VARIANT | |
672062 | Benign: not provided | 73,635,780(-) | T/G | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv6015n100 | CNV | gain | 25217958 |
esv1085598 | CNV | deletion | 17803354 |
esv1724578 | CNV | insertion | 17803354 |
esv23040 | CNV | loss | 19812545 |
esv2647946 | CNV | deletion | 19546169 |
esv2662522 | CNV | deletion | 23128226 |
esv3576178 | CNV | gain | 25503493 |
esv3609514 | CNV | loss | 21293372 |
nsv1124091 | CNV | deletion | 24896259 |
nsv1128260 | CNV | deletion | 24896259 |
nsv527357 | CNV | gain | 19592680 |
nsv603694 | CNV | loss | 21841781 |
nsv950467 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
salla disease |
|
|
infantile sialic acid storage disease |
|
|
intermediate severe salla disease |
|
|
sialuria |
|
|
scrub typhus |
|