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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 |
|---|---|---|---|---|
| 115399774 | SALFA53574 | |||
| 115596765 | SPAAU10810 | |||
| 115609552 | STRHB17045 | |||
| 116442147 | CORMO19064 | |||
| 116815596 | CHEAB16427 | |||
| 117020563 | RHIFE11435 | |||
| 118905490 | BALMU27533 | |||
| 123796345 | URSAM10309 | |||
| 129038861 | 9600_0:001930 |
