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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
solute carrier family 17 member 5
Summary
- Gene Symbol
-
- SLC17A5
- Aliases
-
- AST
- ISSD
- NSD
- SD
- SIALIN
- SLD
- Salla disease
- acidic sugar transporter
- infantile sialic acid storage disorder
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Amino-acid transport
- Cell membrane
- Cytoplasmic vesicle
- Disease variant
- Glycoprotein
- Lysosome
- Phosphoprotein
- Reference proteome
- Symport
- Synapse
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9NRA2 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| monoatomic ion transport | ||
| ion transport | ||
| anion transport | ||
| monoatomic anion transport | ||
| amino acid transport |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| lysosome | ||
| lysosomal membrane | ||
| lysosomal membrane | ||
| lysosomal membrane | ||
| cytosol |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate:proton symporter activity | ||
| sialic acid transmembrane transporter activity | ||
| sialic acid transmembrane transporter activity | ||
| sialic acid:proton symporter activity | ||
| D-glucuronate transmembrane transporter activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- mfs
- Functional Category
-
- C: Energy production and conversion
- E: Amino acid transport and metabolism
- T: Signal transduction mechanisms
| InterPro |
|---|
| MFS transporter superfamily |
| Major facilitator superfamily domain |
| Major facilitator superfamily |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:3659 | sialuria |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001260 | Dysarthria |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001541 | Ascites |
| HP:0001622 | Premature birth |
| HP:0001635 | Congestive heart failure |
| HP:0001640 | Cardiomegaly |
| HP:0001744 | Splenomegaly |
| Disease ID | Disease Name |
|---|---|
| OMIM:269920 |
|
| OMIM:604369 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 107588676 | SINGR12424 | ||
| 107588677 | SINGR12424 | ||
| 108263601 | ICTPU26749 | ||
| 108529193 | RHIBE11552 | ||
| 110217675 | PHACI11295 | ||
| 113432894 | PSETE03087 | ||
| 113580294 | ELEEL25280 | ||
| 113898086 | BOBOX27999 | ||
| 114036482 | VOMUR13117 | ||
| 114593879 | PODMU18460 |
