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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|
| response to bacterium | ||
| carbohydrate transmembrane transport | ||
| neurotransmitter loading into synaptic vesicle | ||
| monoatomic ion transport | ||
| amino acid transport |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| synaptic vesicle membrane | ||
| membrane | ||
| plasma membrane | ||
| lysosome | ||
| basolateral plasma membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate:proton symporter activity | ||
| D-glucuronate transmembrane transporter activity | ||
| sialic acid:proton symporter activity | ||
| sialic acid transmembrane transporter activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- transporter
- 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
- 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 | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 31413 | FB:FBgn0029727 | |||
| 42426 | FB:FBgn0038799 | |||
| 176317 | WB:WBGene00008000 | |||
| 235504 | MGI:1924105 | MOUSE60804 | ||
| 363103 | RGD:1311388 | |||
| 443098 | SHEEP18551 | |||
| 462823 | 9598_0:001d5a | PANTR38552 | ||
| 530164 | BOVIN35339 | |||
| 716100 | MACMU34658 | |||
| 767760 | ZFIN:ZDB-GENE-060929-1158 | DANRE05079 |
