Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
26229 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Beta-1,3-glucuronyltransferase 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
B3GAT3 |
SynonymsGene synonyms aliases
|
GLCATI, JDSCD, glcUAT-I |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11q12.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs372487178 |
C>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs377340567 |
G>A |
Likely-pathogenic |
Stop gained, coding sequence variant, non coding transcript variant |
rs387906937 |
C>G,T |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs535206047 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
rs753781915 |
G>A |
Likely-pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
rs879255269 |
G>A |
Pathogenic |
Missense variant, non coding transcript variant, coding sequence variant |
rs1085307917 |
C>T |
Likely-pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
O94766 |
Protein name |
Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 3) (Glucuronosyltransferase I) (GlcAT-I) (UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase) (GlcUAT-I) |
Protein function |
Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to |
PDB |
1FGG
,
1KWS
,
3CU0
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03360 |
Glyco_transf_43 |
96 → 312 |
Glycosyltransferase family 43 |
Family |
|
Sequence |
|
Sequence length |
335 |
Interactions |
View interactions |