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This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by RefSeq, Jul 2008]
B4GAT1 (Beta-1,4-Glucuronyltransferase 1) is a Protein Coding gene. Diseases associated with B4GAT1 include Muscular Dystrophy-Dystroglycanopathy , Type A, 13 and Muscular Dystrophy-Dystroglycanopathy , Type A, 1. Among its related pathways are terminal O-glycans residues modification and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include glucuronosyltransferase activity and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is GXYLT1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 19587235 |
GO:0008532 | NOT N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | IDA | 25279697 |
GO:0015020 | glucuronosyltransferase activity | IDA | 25279697 |
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,IDA | 25279699 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030173 | integral component of Golgi membrane | NAS | 9405606 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
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|
2 | Glycosaminoglycan metabolism | ||
3 | Keratan sulfate/keratin metabolism | ||
4 | Metabolism of proteins | ||
5 | Mannose type O-glycan biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006486 | protein glycosylation | IEA | -- |
GO:0006493 | protein O-linked glycosylation | TAS | -- |
GO:0018146 | keratan sulfate biosynthetic process | TAS | -- |
GO:0030311 | NOT poly-N-acetyllactosamine biosynthetic process | IDA | 25279697 |
GO:0035269 | protein O-linked mannosylation | IDA | 25279697 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | B3GNT1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | B3GNT1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | B3GNT1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | B3gnt1 30 31 |
|
OneToOne | |
B4gat1 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | B3gnt1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | B3GNT1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | B3GNT1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | B3GNT1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b3gnt1 30 |
|
||
Str.5619 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | b3gnt1 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3253 30 31 |
|
OneToMany | |
CG15483 31 |
|
OneToMany | |||
CG11149 31 |
|
OneToMany | |||
CG9171 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
645033 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 66,347,035(-) | G/T | SYNONYMOUS_VARIANT | |
648835 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 66,346,524(-) | C/T | MISSENSE_VARIANT | |
664063 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 66,347,032(-) | C/G | MISSENSE_VARIANT | |
664213 | Uncertain Significance: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13 | 66,346,562(-) | G/C | MISSENSE_VARIANT | |
678225 | Benign: not provided | 66,347,793(-) | G/A |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy-dystroglycanopathy , type a, 13 |
|
|
muscular dystrophy-dystroglycanopathy , type a, 1 |
|
|
walker-warburg syndrome |
|
|
muscular dystrophy-dystroglycanopathy |
|
|
cobblestone lissencephaly |
|
|