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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
CMP-sialic acid transporter
Summary
- UniProt ID
- P78382
- Gene Symbol
-
- SLC35A1
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- P78382
- PubChem
- P78382
- The Human Metabolome Database
- HMDBP11932
- The O-GlcNAc Database
- P78382
Annotation
- Keyword
-
- Alternative splicing
- Antiport
- Congenital disorder of glycosylation
- Disease variant
- Golgi apparatus
- Reference proteome
- Sugar transport
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| CMP-N-acetylneuraminate transmembrane transport |
| carbohydrate metabolic process |
| protein modification process |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| plasma membrane |
| membrane |
| GO Term |
|---|
| antiporter activity |
| CMP-N-acetylneuraminate transmembrane transporter activity |
Sequence
MAAPRDNVTLLFKLYCLAVMTLMAAVYTIALRYTRTSDKELYFSTTAVCITEVIKLLLSVGILAKETGSLGRFKASLRENVLGSPKELLKLSVPSLVYAVQNNMAFLALSNLDAAVYQVTYQLKIPCTALCTVLMLNRTLSKLQWVSVFMLCAGVTLVQWKPAQATKVVVEQNPLLGFGAIAIAVLCSGFAGVYFEKVLKSSDTSLWVRNIQMYLSGIIVTLAGVYLSDGAEIKEKGFFYGYTYYVWFVIFLASVGGLYTSVVVKYTDNIMKGFSAAAAIVLSTIASVMLFGLQITLTFALGTLLVCVSIYLYGLPRQDTTSIQQGETASKERVIGV
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) | Homo sapiens |
| Defective SLC35A1 causes congenital disorder of glycosylation 2F (CDG2F) | Homo sapiens |
| Sialic acid metabolism | Homo sapiens |
| Transport of nucleotide sugars | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:381 | arthropathy | |
| DOID:0050571 | congenital disorder of glycosylation type II | |
| DOID:0050572 | cone-rod dystrophy | |
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0050590 | severe congenital neutropenia | |
| DOID:0050759 | myotonic dystrophy type 2 | |
| DOID:0070258 | congenital disorder of glycosylation type IIf | |
| DOID:0080348 | Alzheimer's disease 1 | |
| DOID:0080568 | congenital disorder of glycosylation Iq | |
| DOID:0090053 | episodic kinesigenic dyskinesia 1 |
