Gene
b4galt1
- ID
- ZDB-GENE-050417-236
- Name
- UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
- Symbol
- b4galt1 Nomenclature History
- Previous Names
-
- zgc:111810
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Exhibits galactosyltransferase activity. Involved in cell migration involved in gastrulation and notochord morphogenesis. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation type IId. Is expressed in lateral mesoderm; olfactory placode; oocyte; and optic vesicle. Orthologous to human B4GALT1 (beta-1,4-galactosyltransferase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Machingo et al., 2006
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital disorder of glycosylation type IId | Alliance | Congenital disorder of glycosylation, type IId | 607091 |
Combined low LDL and fibrinogen | 620364 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Beta-1,4-galactosyltransferase | Galactosyltransferase, N-terminal | Nucleotide-diphospho-sugar transferases |
---|---|---|---|---|
UniProtKB:Q567N4
|
214 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
b4galt1-201
(1)
|
Ensembl | 645 nt | ||
mRNA |
b4galt1-202
(1)
|
Ensembl | 1,027 nt |
Interactions and Pathways
No data available
Plasmids
No data available