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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Sialin
Summary
- UniProt ID
- Q9NRA2
- Gene Symbol
-
- SLC17A5
- Organism
- Homo sapiens (human)
External Links
- PubChem
- Q9NRA2
- The Human Metabolome Database
- HMDBP02797
- RaftProt
- Q9NRA2
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Amino-acid transport
- Cell membrane
- Cytoplasmic vesicle
- Disease variant
- Glycoprotein
- Lysosome
- Phosphoprotein
- Reference proteome
- Symport
- Synapse
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| sialic acid transport |
| monoatomic ion transport |
| monoatomic anion transport |
| amino acid transport |
| response to bacterium |
| GO Term |
|---|
| basolateral plasma membrane |
| synaptic vesicle membrane |
| cytosol |
| lysosome |
| lysosomal membrane |
| plasma membrane |
| membrane |
Sequence
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH
Glycosylation Sites
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective SLC17A5 causes Salla disease (SD) and ISSD | Homo sapiens |
| Organic anion transporters | Homo sapiens |
| Sialic acid metabolism | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:633 | myositis | |
| DOID:0060260 | ptosis | |
| DOID:0060261 | congenital ptosis | |
| 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 |
