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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-1,4-galactosyltransferase 7
Summary
- UniProt ID
- Q9UBV7
- Gene Symbol
-
- B4GALT7
- XGALT1
- Organism
- Homo sapiens (human)
External Links
- PubChem
- Q9UBV7
- The Human Metabolome Database
- HMDBP02959
Annotation
- Keyword
-
- 3D-structure
- Disease variant
- Disulfide bond
- Dwarfism
- Ehlers-Danlos syndrome
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Manganese
- Metal-binding
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| Golgi apparatus |
| membrane |
| Golgi cisterna membrane |
Sequence
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 154 | N-linked (GlcNAc...) asparagine |
|
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| A tetrasaccharide linker sequence is required for GAG synthesis | Homo sapiens |
| Defective B4GALT7 causes EDS, progeroid type | 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:0060180 | colitis | |
| DOID:0050429 | Hailey-Hailey disease | |
| DOID:0050569 | Seckel syndrome | |
| DOID:0050802 | Ehlers-Danlos syndrome spondylodysplastic type 2 | |
| DOID:0060189 | ileitis | |
| DOID:0060190 | ileocolitis | |
| DOID:0060249 | scoliosis | |
| DOID:0060254 | Robinow syndrome | |
| DOID:0060467 | humeroradial synostosis | |
| DOID:0060578 | Noonan syndrome 1 |
