Gene
b3gat3
- ID
- ZDB-GENE-020419-3
- Name
- beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)
- Symbol
- b3gat3 Nomenclature History
- Previous Names
-
- beta-1,3-glucuronyltransferase 3
- CHUNP6865
- fe01c06
- wu:fe01c06
- zgc:112070
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to have galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. Involved in cartilage development; extracellular matrix organization; and proteoglycan biosynthetic process. Predicted to localize to Golgi membrane. Human ortholog(s) of this gene implicated in Larsen-like syndrome B3GAT3 type. Orthologous to human B3GAT3 (beta-1,3-glucuronyltransferase 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Larsen-like syndrome B3GAT3 type | Alliance | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | 245600 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycosyl transferase, family 43 | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|
|
UniProtKB:F8W289
|
330 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b3gat3-202
(1)
|
Ensembl | 3,739 nt | ||
| mRNA |
b3gat3-203
(1)
|
Ensembl | 1,242 nt | ||
| ncRNA |
b3gat3-002
(1)
|
Ensembl | 879 nt |
Interactions and Pathways
No data available
Plasmids
No data available