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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. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
B4GALT1 (Beta-1,4-Galactosyltransferase 1) is a Protein Coding gene. Diseases associated with B4GALT1 include Congenital Disorder Of Glycosylation, Type Iid and Olfactory Nerve Disease. Among its related pathways are Sweet Taste Signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and cytoskeletal protein binding. An important paralog of this gene is B4GALT2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003831 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity | IEA,IDA | 33805 |
GO:0003945 | N-acetyllactosamine synthase activity | IEA,IDA | 33805 |
GO:0004461 | lactose synthase activity | EXP,IDA | 33805 |
GO:0008378 | galactosyltransferase activity | NAS | 7540104 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000138 | Golgi trans cisterna | IDA | 6121819 |
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | HDA | 16502470 |
GO:0005794 | Golgi apparatus | IDA | 7744867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Keratan sulfate/keratin metabolism | ||
2 | Fertilization |
1.00
1.00
|
|
3 | Innate Immune System |
.61
|
|
4 | Galactose metabolism |
Galactose metabolism
.38
|
|
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002064 | epithelial cell development | IEA | -- |
GO:0002526 | acute inflammatory response | IEA | -- |
GO:0005975 | carbohydrate metabolic process | IEA | -- |
GO:0005989 | lactose biosynthetic process | IEA,TAS | -- |
GO:0006012 | galactose metabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
N-Acetyl-D-glucosamine | Approved, Investigational | Nutra | Target | 0 | ||
D-glucose | Approved, Investigational, Vet_approved | Pharma | 0 | |||
lactose | Approved, Experimental, Investigational | Pharma | 0 | |||
Manganese | Approved | Nutra | 56 | |||
Uridine diphosphategalactose | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
beta-Lactose |
|
5965-66-2 |
|
|||
n-acetyllactosamine |
|
32181-59-2 |
|
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B4GALT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B4GALT1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | B4galt1 30 |
|
||
Cow (Bos Taurus) |
Mammalia | B4GALT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | B4galt1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | B4GALT1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | B4GALT1 30 |
|
||
CKI 31 |
|
OneToOne | |||
Lizard (Anolis carolinensis) |
Reptilia | B4GALT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galt1.1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:154116 30 |
|
||
B4GALT1 (2 of 2) 31 |
|
OneToMany | |||
b4galt1 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | BcDNA:GH13356 32 |
|
|
|
CG14517 32 |
|
|
|||
beta4GalNAcTA 31 |
|
ManyToMany | |||
beta4GalNAcTB 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | Y73E7A.7 32 |
|
|
|
W02B12.11 32 |
|
|
|||
bre-4 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
676106 | Benign: not provided | 33,135,087(-) | G/A | INTRON_VARIANT | |
719722 | Likely Benign: not provided | 33,166,911(-) | G/A | MISSENSE_VARIANT | |
741158 | Likely Benign: not provided | 33,167,116(-) | G/C | SYNONYMOUS_VARIANT | |
741565 | Likely Benign: not provided | 33,166,978(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
790066 | Likely Benign: not provided | 33,167,143(-) | G/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4305e59 | CNV | tandem duplication | 20981092 |
dgv7515n100 | CNV | gain | 25217958 |
dgv7516n100 | CNV | gain | 25217958 |
esv1668110 | CNV | insertion | 17803354 |
esv2762813 | CNV | gain | 21179565 |
esv3303944 | CNV | mobile element insertion | 20981092 |
esv3308660 | CNV | mobile element insertion | 20981092 |
esv3321590 | CNV | insertion | 20981092 |
esv3324161 | CNV | duplication | 20981092 |
esv3342329 | CNV | insertion | 20981092 |
esv3351325 | CNV | insertion | 20981092 |
esv3362596 | CNV | duplication | 20981092 |
esv3573223 | CNV | loss | 25503493 |
nsv1132979 | CNV | insertion | 24896259 |
nsv1142551 | CNV | tandem duplication | 24896259 |
nsv509299 | CNV | insertion | 20534489 |
nsv519369 | CNV | gain | 19592680 |
nsv527001 | CNV | loss | 19592680 |
nsv614143 | CNV | gain | 21841781 |
nsv6523 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital disorder of glycosylation, type iid |
|
|
olfactory nerve disease |
|
|
neurotrophic keratoconjunctivitis |
|
|
congenital disorder of glycosylation, type iim |
|
|
congenital disorder of glycosylation, type iif |
|
|