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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-1,4-glucuronyltransferase 1
Summary
- UniProt ID
- O43505
- Gene Symbol
-
- B4GAT1
- B3GNT1
- B3GNT6
- Organism
- Homo sapiens (human)
External Links
- GlycoProtDB
- GPDB0011204
- GlyConnect
- GlyGen
- O43505
- PubChem
- O43505
- The Human Metabolome Database
- HMDBP01704
Annotation
- Keyword
-
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Lissencephaly
- Manganese
- Metal-binding
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| keratan sulfate biosynthetic process |
| axon guidance |
| protein O-linked mannosylation |
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| extracellular exosome |
| GO Term |
|---|
| glucuronosyltransferase activity |
| N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity |
| metal ion binding |
Sequence
MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCPSRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGLREMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTNYSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQFKQELKAKYPNSPRRC
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 204 | N-linked (GlcNAc...) asparagine | |||
| 300 | N-linked (GlcNAc...) asparagine |
G62765YT
G83229XP
G36379GD
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Defective LARGE causes MDDGA6 and MDDGB6 | Homo sapiens |
| Keratan sulfate biosynthesis | Homo sapiens |
| O-linked glycosylation | 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:0110636 | congenital merosin-deficient muscular dystrophy 1A | |
| DOID:0110637 | muscular dystrophy-dystroglycanopathy type B6 | |
| DOID:0110639 | congenital muscular dystrophy due to integrin alpha-7 deficiency | |
| DOID:0110640 | congenital muscular dystrophy due to LMNA mutation | |
| DOID:0111237 | congenital muscular dystrophy-dystroglycanopathy type A1 | |
| DOID:0111238 | congenital muscular dystrophy-dystroglycanopathy type A13 | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:10629 | microphthalmia | |
| DOID:10907 | microcephaly | |
| DOID:10908 | hydrocephalus |
