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Chitobiosyldiphosphodolichol beta-mannosyltransferase
Summary
- UniProt ID
- Q9BT22
- Gene Symbol
-
- ALG1
- HMAT1
- HMT1
- Organism
- Homo sapiens (human)
External Links
- GlyGen
- Q9BT22
- PubChem
- Q9BT22
- The Human Metabolome Database
- HMDBP02363
- The O-GlcNAc Database
- Q9BT22
Annotation
- Keyword
-
- Alternative splicing
- Congenital disorder of glycosylation
- Disease variant
- Endoplasmic reticulum
- Glycosyltransferase
- Phosphoprotein
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| protein glycosylation |
| dolichol-linked oligosaccharide biosynthetic process |
| GO Term |
|---|
| membrane |
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| mannosyltransferase activity |
| chitobiosyldiphosphodolichol beta-mannosyltransferase activity |
Sequence
MAASCLVLLALCLLLPLLLLGGWKRWRRGRAARHVVAVVLGDVGRSPRMQYHALSLAMHGFSVTLLGFCNSKPHDELLQNNRIQIVGLTELQSLAVGPRVFQYGVKVVLQAMYLLWKLMWREPGAYIFLQNPPGLPSIAVCWFVGCLCGSKLVIDWHNYGYSIMGLVHGPNHPLVLLAKWYEKFFGRLSHLNLCVTNAMREDLADNWHIRAVTVYDKPASFFKETPLDLQHRLFMKLGSMHSPFRARSEPEDPVTERSAFTERDAGSGLVTRLRERPALLVSSTSWTEDEDFSILLAALEKFEQLTLDGHNLPSLVCVITGKGPLREYYSRLIHQKHFQHIQVCTPWLEAEDYPLLLGSADLGVCLHTSSSGLDLPMKVVDMFGCCLPVCAVNFKCLHELVKHEENGLVFEDSEELAAQLQMLFSNFPDPAGKLNQFRKNLRESQQLRWDESWVQTVLPLVMDT
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
|
|
G49108TO
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein | Homo sapiens |
| Defective ALG1 causes CDG-1k | 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:1924 | hypogonadism | |
| DOID:219 | colon cancer | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0050570 | congenital disorder of glycosylation type I | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0060058 | lymphoma | |
| DOID:0060193 | amyotrophic lateral sclerosis type 1 | |
| DOID:0060249 | scoliosis | |
| DOID:0080162 | lupus nephritis | |
| DOID:0080326 | familial hypertrophic cardiomyopathy |
