Free for academic non-profit institutions. Other users need a Commercial license
The MGAT5B gene encodes a beta-1,6-N-acetylglucosaminyltransferase (EC 2.4.1.155) that functions in the synthesis of complex cell surface N-glycans (Kaneko et al., 2003 [PubMed 14623122]).[supplied by OMIM, Nov 2008]
MGAT5B (Alpha-1,6-Mannosylglycoprotein 6-Beta-N-Acetylglucosaminyltransferase B) is a Protein Coding gene. Diseases associated with MGAT5B include Muscular Dystrophy, Congenital, Lmna-Related and Walker-Warburg Syndrome. Among its related pathways are Mannose type O-glycan biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity. An important paralog of this gene is MGAT5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 23088713 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO:0030144 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity | IEA,IDA | 19846580 |
GO:0030145 | manganese ion binding | IDA | 19846580 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | IEA | -- |
GO:0005794 | Golgi apparatus | IEA,IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Mannose type O-glycan biosynthesis | ||
2 | Metabolism | ||
3 | N-Glycan biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006487 | protein N-linked glycosylation | IEA,IBA | 21873635 |
GO:0018215 | protein phosphopantetheinylation | IEA | -- |
GO:0018242 | protein O-linked glycosylation via serine | IDA | 19846580 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Uridine 5'-diphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Uridine diphosphate-N-acetylglucosamine |
|
528-04-1 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MGAT5B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MGAT5B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MGAT5B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mgat5b 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mgat5b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MGAT5B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MGAT5B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MGAT5B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MGAT5B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mgat5b 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.12314 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC101884072 30 |
|
||
MGAT5B 31 |
|
OneToOne | |||
Worm (Caenorhabditis elegans) |
Secernentea | gly-2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs571264 | - |
p.Val70Ile |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2546238 | CNV | insertion | 19546169 |
nsv1059991 | CNV | loss | 25217958 |
nsv1071404 | CNV | deletion | 25765185 |
nsv1123146 | CNV | deletion | 24896259 |
nsv457912 | CNV | loss | 19166990 |
nsv510443 | OTHER | sequence alteration | 20534489 |
nsv521914 | CNV | loss | 19592680 |
nsv524066 | CNV | loss | 19592680 |
nsv576068 | CNV | loss | 21841781 |
nsv576069 | CNV | loss | 21841781 |
nsv576070 | CNV | loss | 21841781 |
nsv833550 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy, congenital, lmna-related |
|
|
walker-warburg syndrome |
|
|