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B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]
B4GALNT3 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 3) is a Protein Coding gene. Diseases associated with B4GALNT3 include Epithelial Basement Membrane Dystrophy. Among its related pathways are Metabolism and N-Glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include acetylgalactosaminyltransferase activity and N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008376 | acetylgalactosaminyltransferase activity | IDA | 12966086 |
GO:0016740 | transferase activity | IEA | -- |
GO:0033842 | N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0032580 | Golgi cisterna membrane | IEA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism | ||
2 | N-Glycan biosynthesis |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
N-Acetylgalactosamine |
|
1811-31-0 |
|
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UDP-N-acetyl-alpha-D-galactosamine |
|
|
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Uridine diphosphate-N-acetylgalactosamine |
|
7277-98-7 |
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ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B4GALNT3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B4GALNT3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | B4galnt3 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B4GALNT3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | B4galnt3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | B4GALNT3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALNT3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | B4GALNT3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | B4GALNT3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galnt3 30 |
|
||
Str.11923 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.15475 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | b4galnt3b 30 31 |
|
OneToMany | |
B4GALNT3 (2 of 3) 31 |
|
OneToMany | |||
b4galnt3a 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG43313 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | mig-22 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.937 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
721593 | Benign: not provided | 460,460(+) | G/A | SYNONYMOUS_VARIANT | |
771452 | Benign: not provided | 556,741(+) | G/T | MISSENSE_VARIANT | |
774703 | Benign: not provided | 553,246(+) | G/C | MISSENSE_VARIANT | |
774704 | Benign: not provided | 553,529(+) | C/T | MISSENSE_VARIANT | |
781815 | Benign: not provided | 553,981(+) | G/C | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
epithelial basement membrane dystrophy |
|
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