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This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
B4GALT5 (Beta-1,4-Galactosyltransferase 5) is a Protein Coding gene. Among its related pathways are Sweet Taste Signaling and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity. An important paralog of this gene is B4GALT6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003945 | N-acetyllactosamine synthase activity | IEA | -- |
GO:0008378 | galactosyltransferase activity | TAS | 9597550 |
GO:0008489 | UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity | IMP | 24498430 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0032580 | Golgi cisterna membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Transport to the Golgi and subsequent modification | ||
3 | Glycosaminoglycan metabolism | ||
4 | Keratan sulfate/keratin metabolism | ||
5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0006486 | protein glycosylation | ISS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006665 | sphingolipid metabolic process | IEA | -- |
GO:0010706 | ganglioside biosynthetic process via lactosylceramide | IEA,ISS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Manganese | Approved | Nutra | 56 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B4GALT5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | B4GALT5 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT5 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B4GALT5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B4GALT5 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | B4galt5 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | B4GALT5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | B4GALT5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galt6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | b4galt5 30 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | BcDNA:GH13356 32 |
|
|
|
CG14517 32 |
|
|
|||
beta4GalT7 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | W02B12.11 30 32 |
|
||
Y73E7A.7 32 |
|
|
|||
sqv-3 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
709517 | Benign: not provided | 49,639,776(-) | G/A | SYNONYMOUS_VARIANT | |
717599 | Benign: not provided | 49,656,596(-) | G/A | SYNONYMOUS_VARIANT | |
731031 | Benign: not provided | 49,713,631(-) | G/A | SYNONYMOUS_VARIANT | |
770001 | Benign: not provided | 49,642,593(-) | G/A | INTRON_VARIANT | |
rs2273086 | - | p.Gly61Ser |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3646017 | CNV | gain | 21293372 |
esv3646018 | CNV | gain | 21293372 |
esv3646019 | CNV | loss | 21293372 |
esv3646020 | CNV | gain | 21293372 |
esv3646021 | CNV | gain | 21293372 |
nsv1065418 | CNV | gain | 25217958 |
nsv1065852 | CNV | loss | 25217958 |
nsv819562 | CNV | loss | 19587683 |
nsv954056 | CNV | duplication | 24416366 |
No disorders were found for B4GALT5 Gene.