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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
UDP-N-acetylglucosamine transporter
Summary
- UniProt ID
- Q9Y2D2
- Gene Symbol
-
- SLC35A3
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9Y2D2
- PubChem
- Q9Y2D2
- The Human Metabolome Database
- HMDBP02975
- The O-GlcNAc Database
- Q9Y2D2
Annotation
- Keyword
-
- Alternative splicing
- Antiport
- Autism spectrum disorder
- Disease variant
- Epilepsy
- Golgi apparatus
- Intellectual disability
- Reference proteome
- Sugar transport
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| UDP-N-acetylglucosamine metabolic process |
| UDP-N-acetylglucosamine transmembrane transport |
| UDP-galactose transmembrane import into Golgi lumen |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| GO Term |
|---|
| UDP-galactose transmembrane transporter activity |
| UDP-N-acetylglucosamine transmembrane transporter activity |
| antiporter activity |
Sequence
MFANLKYVSLGILVFQTTSLVLTMRYSRTLKEEGPRYLSSTAVVVAELLKIMACILLVYKDSKCSLRALNRVLHDEILNKPMETLKLAIPSGIYTLQNNLLYVALSNLDAATYQVTYQLKILTTALFSVSMLSKKLGVYQWLSLVILMTGVAFVQWPSDSQLDSKELSAGSQFVGLMAVLTACFSSGFAGVYFEKILKETKQSVWIRNIQLGFFGSIFGLMGVYIYDGELVSKNGFFQGYNRLTWIVVVLQALGGLVIAAVIKYADNILKGFATSLSIILSTLISYFWLQDFVPTSVFFLGAILVITATFLYGYDPKPAGNPTKA
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) | Homo sapiens |
| Transport of nucleotide sugars | Homo sapiens |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050568 | spondylocostal dysostosis | |
| DOID:0060041 | autism spectrum disorder | |
| DOID:0060249 | scoliosis | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:1059 | intellectual disability | |
| DOID:10907 | microcephaly | |
| DOID:11832 | visual epilepsy | |
| DOID:12721 | multiple epiphyseal dysplasia | |
| DOID:12804 | mucopolysaccharidosis IV | |
| DOID:12849 | autistic disorder |
