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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 |
|---|---|---|
| plasma membrane | ||
| membrane | ||
| basolateral plasma membrane | ||
| apical plasma membrane | ||
| synaptic vesicle membrane |
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:0000639 | Nystagmus |
| HP:0000750 | Delayed speech and language development |
| HP:0000765 | Abnormal thorax morphology |
| HP:0000938 | Osteopenia |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001251 | Ataxia |
| HP:0001252 | Hypotonia |
| HP:0001257 | Spasticity |
| 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 |
|---|---|---|---|
| 100549408 | MELGA06241 | ||
| 100592231 | NOMLE27880 | ||
| 100657977 | LOXAF20807 | ||
| 100708225 | ORENI12067 | ||
| 100714527 | CAVPO03277 | ||
| 100757887 | CRIGR11015 | ||
| 100977861 | PANPA34744 | ||
| 101074777 | TAKRU40214 | ||
| 101147234 | GORGO37188 | ||
| 101165833 | ORYLA04743 |
