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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe
Summary
- UniProt ID
- Q8NES3
- Gene Symbol
-
- LFNG
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0012419
- GlyConnect
- GlyGen
- Q8NES3
- PubChem
- Q8NES3
Annotation
- Keyword
-
- Alternative splicing
- Developmental protein
- Disease variant
- Disulfide bond
- Dwarfism
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Manganese
- Metal-binding
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| extracellular region |
| extracellular vesicle |
| GO Term |
|---|
| metal ion binding |
| O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity |
Sequence
MLKRCGRRLLLALAGALLACLLVLTADPPPPPLPAERGRRALRSLAGPAGAAPAPGLGAAAAAPGALVRDVHSLSEYFSLLTRARRDAGPPPGAAPRPADGHPRPLAEPLAPRDVFIAVKTTKKFHRARLDLLLETWISRHKEMTFIFTDGEDEALARHTGNVVITNCSAAHSRQALSCKMAVEYDRFIESGRKWFCHVDDDNYVNLRALLRLLASYPHTRDVYVGKPSLDRPIQAMERVSENKVRPVHFWFATGGAGFCISRGLALKMSPWASGGHFMNTAERIRLPDDCTIGYIVEALLGVPLIRSGLFHSHLENLQQVPTSELHEQVTLSYGMFENKRNAVHVKGPFSVEADPSRFRSIHCHLYPDTPWCPRTAIF
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 167 | N-linked (GlcNAc...) asparagine |
G81198YO
G72787SB
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective LFNG causes SCDO3 | Homo sapiens |
| Nephron development | Homo sapiens |
| Pre-NOTCH Processing in Golgi | Homo sapiens |
| Somitogenesis | 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:1088 | meningocele | |
| DOID:10892 | hypospadias | |
| DOID:10907 | microcephaly | |
| DOID:10923 | sickle cell anemia | |
| DOID:11383 | cryptorchidism | |
| DOID:12721 | multiple epiphyseal dysplasia | |
| DOID:12804 | mucopolysaccharidosis IV | |
| DOID:13515 | tuberous sclerosis | |
| DOID:14323 | Marfan syndrome | |
| DOID:14365 | systemic primary carnitine deficiency disease |
