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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Beta-1,3-galactosyltransferase 6
Summary
- UniProt ID
- Q96L58
- Gene Symbol
-
- B3GALT6
- Organism
- Homo sapiens (human)
External Links
- GlyConnect
- GlyGen
- Q96L58
- PubChem
- Q96L58
- The Human Metabolome Database
- HMDBP03281
Annotation
- Keyword
-
- Disease variant
- Dwarfism
- Ehlers-Danlos syndrome
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Manganese
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| Golgi membrane |
| Golgi medial cisterna |
| Golgi cisterna membrane |
| Golgi apparatus |
| membrane |
| GO Term |
|---|
| galactosylxylosylprotein 3-beta-galactosyltransferase activity |
| UDP-galactosyltransferase activity |
Sequence
MKLLRRAWRRRAALGLGTLALCGAALLYLARCAAEPGDPRAMSGRSPPPPAPARAAAFLAVLVASAPRAAERRSVIRSTWLARRGAPGDVWARFAVGTAGLGAEERRALEREQARHGDLLLLPALRDAYENLTAKVLAMLAWLDEHVAFEFVLKADDDSFARLDALLAELRAREPARRRRLYWGFFSGRGRVKPGGRWREAAWQLCDYYLPYALGGGYVLSADLVHYLRLSRDYLRAWHSEDVSLGAWLAPVDVQREHDPRFDTEYRSRGCSNQYLVTHKQSLEDMLEKHATLAREGRLCKREVQLRLSYVYDWSAPPSQCCQRREGIP
Glycosylation Sites
G31986NC
G00912UN
G63381RX
G25451PN
G59626AS
G36379GD
G57321FI
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 B3GALT6 causes EDSP2 and SEMDJL1 | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0070133 | autosomal recessive cutis laxa type IB | |
| DOID:0070134 | autosomal recessive cutis laxa type IIA | |
| DOID:0070135 | autosomal recessive cutis laxa type IA | |
| DOID:0070136 | autosomal dominant cutis laxa 2 | |
| DOID:0070137 | autosomal recessive cutis laxa type IIB | |
| DOID:0070138 | autosomal recessive cutis laxa type IIIB | |
| DOID:0070140 | autosomal recessive cutis laxa type IIC | |
| DOID:0070141 | autosomal recessive cutis laxa type II classic type | |
| DOID:0070142 | autosomal dominant cutis laxa | |
| DOID:0080001 | bone disease |
