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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 |
|---|---|---|
| sialic acid transport | ||
| anion transport | ||
| ion transport |
|
|
| response to bacterium | ||
| amino acid transport |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol | ||
| plasma membrane | ||
| membrane |
|
|
| lysosomal membrane | ||
| synaptic vesicle membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| carbohydrate:proton symporter activity |
|
|
| sialic acid:proton symporter activity |
|
|
| D-glucuronate transmembrane transporter activity | ||
| sialic acid transmembrane transporter activity |
GO Hierarchy
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0014667 | disease of metabolism | |
| DOID:0050426 | Stevens-Johnson syndrome | |
| DOID:0050453 | lissencephaly | |
| DOID:0050590 | severe congenital neutropenia | |
| DOID:0050741 | alcohol dependence | |
| DOID:0050819 | obsolete Matthew-Wood syndrome | |
| DOID:0050848 | obstructive sleep apnea | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
| DOID:0060215 | Balo concentric sclerosis |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000100 | Nephrotic syndrome |
| HP:0000212 | Gingival overgrowth |
| HP:0000218 | High palate |
| HP:0000238 | Hydrocephalus |
| HP:0000280 | Coarse facial features |
| HP:0000286 | Epicanthus |
| HP:0000463 | Anteverted nares |
| HP:0000508 | Ptosis |
| HP:0000577 | Exotropia |
| 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 |
|---|---|---|---|
| 176317 | WB:WBGene00008000 | ||
| 181777 | WB:WBGene00022647 | ||
| 31413 | FB:FBgn0029727 | ||
| 42426 | FB:FBgn0038799 | ||
| 102357391 | LATCH04584 | ||
| 767760 | ZFIN:ZDB-GENE-060929-1158 | DANRE05079 | |
| 103022067 | ASTMX07603 | ||
| 108263601 | ICTPU26749 | ||
| 113580294 | ELEEL25280 | ||
| 115193799 | SALTR90675 |
