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This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008]
B3GNT4 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 4) is a Protein Coding gene. Diseases associated with B3GNT4 include Dowling-Degos Disease. Among its related pathways are Metabolism of proteins and Glycosphingolipid biosynthesis - lacto and neolacto series. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008375 | acetylglucosaminyltransferase activity | IBA | 21873635 |
GO:0008376 | acetylgalactosaminyltransferase activity | IBA | 21873635 |
GO:0008378 | galactosyltransferase activity | IEA | -- |
GO:0008457 | beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity | IEA | -- |
GO:0008532 | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | IEA,IDA | 11042166 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005783 | endoplasmic reticulum | IBA | -- |
GO:0005794 | Golgi apparatus | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
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2 | Glycosaminoglycan metabolism | ||
3 | Keratan sulfate/keratin metabolism | ||
4 | Metabolism of proteins | ||
5 | O-linked glycosylation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IBA | 21873635 |
GO:0006493 | protein O-linked glycosylation | IBA | -- |
GO:0016266 | O-glycan processing | TAS | -- |
GO:0018146 | keratan sulfate biosynthetic process | TAS | -- |
GO:0030311 | poly-N-acetyllactosamine biosynthetic process | IDA | 11042166 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B3GNT4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B3GNT4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B3GNT4 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | B3gnt4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | B3gnt4 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | B3GNT4 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | B3GNT4 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | B3GNT4 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | B3GNT4 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b3gnt4 30 |
|
||
Str.20273 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | b3gnt7l 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30036 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1057519151 | Uncertain Significance: not provided | 122,208,388(+) | TCACGCAGGTAG/T | FRAMESHIFT_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs1223091168 | Likely Benign: not specified | 122,208,441(+) | T/C | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs149387774 | Benign/Likely Benign: not specified; not provided | 122,208,555(+) | G/A | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs150199226 | Benign/Likely Benign: not specified; not provided | 122,208,431(+) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT | |
rs35426428 | Benign: not specified | 122,208,411(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
dowling-degos disease |
|
|