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
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With b3gat3 Human Ortholog
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
Associated With b3gat3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR005027 Glycosyl transferase, family 43
Homologous_superfamily IPR029044 Nucleotide-diphospho-sugar transferases
Domain Details Per Protein
Protein Length Glycosyl transferase, family 43 Nucleotide-diphospho-sugar transferases
UniProtKB:Q567G3 328
UniProtKB:A0A286Y9T9 299
UniProtKB:F8W289 330
UniProtKB:Q5CB07 327
UniProtKB:Q8JHI9 329
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations