B3GAT3
entrez
26229
canonical
uniprot
O94766
canonical
ensembl
ENSG00000149541
resolver
ensp
ENSP00000265471
resolver
ensp
ENSP00000431359
resolver
ensp
ENSP00000432474
resolver
enst
ENST00000531383
resolver
genesymbol
B3GAT3
resolver
hgnc
HGNC:923
resolver
uniprot
B7ZAB3
resolver
uniprot
G3V150
resolver
uniprot
Q5U676
resolver
uniprot
Q96I06
resolver
uniprot
Q9UEP0
resolver
uniprot_entry
B3GA3_HUMAN
resolver
uniprot_entry
G3V150_HUMAN
resolver
uniprot_entry
Q5U676_HUMAN
resolver
uniprot_sec
B7ZAB3
resolver
uniprot_sec
Q96I06
resolver
uniprot_sec
Q9UEP0
resolver
activity_regulation
ACTIVITY REGULATION: Inhibited by EDTA.
uniprot
proteins
amino_acid_sequence
MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAANCTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV
uniprot
proteins
disease_involvement
DISEASE: Multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects (JDSCD) [MIM:245600]: An autosomal recessive disease characterized by dysmorphic facies, bilateral dislocations of the elbows, hips, and knees, clubfeet, and short stature, as well as cardiovascular defects. {ECO:0000269|PubMed:21763480, ECO:0000269|PubMed:24668659, ECO:0000269|PubMed:25893793, ECO:0000269|PubMed:26086840, ECO:0000269|PubMed:31988067}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.135
uniprot
proteins
function
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 the common linkage region trisaccharide Gal-beta-1,3-Gal-beta-1,4-Xyl covalently bound to a Ser residue at the glycosaminylglycan attachment site of proteoglycans. Can also play a role in the biosynthesis of l2/HNK-1 carbohydrate epitope on glycoproteins. Shows strict specificity for Gal-beta-1,3-Gal-beta-1,4-Xyl, exhibiting negligible incorporation into other galactoside substrates including Galbeta1-3Gal beta1-O-benzyl, Galbeta1-4GlcNAc and Galbeta1-4Glc. Stimulates 2-phosphoxylose phosphatase activity of PXYLP1 in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA) during completion of linkage region formation (PubMed:24425863). {ECO:0000269|PubMed:24425863, ECO:0000269|PubMed:25893793}.
uniprot
proteins
mass_dalton
37122
uniprot
proteins
mutagenesis
MUTAGEN 33; /note="C->A: Loss of dimer formation and reduced activity."; /evidence="ECO:0000269|PubMed:10842173"; MUTAGEN 281; /note="E->A: Absence of enzymatic activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA). Does not increase PXYLP1-induced 2-phosphoxylose phosphatase activity in presence of uridine diphosphate-glucuronic acid (UDP-GlcUA)."; /evidence="ECO:0000269|PubMed:24425863, ECO:0000303|PubMed:24425863"; MUTAGEN 301; /note="C->A: Enzyme inactivation and loss of glycosylation."; /evidence="ECO:0000269|PubMed:10842173
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation.
uniprot
proteins
post_translational_modification
PTM: N-glycosylated.
uniprot
proteins
protein_family
Glycosyltransferase 43 family
uniprot
proteins
pubmed
10526176
uniprot
proteins
pubmed
10842173
uniprot
proteins
pubmed
10946001
uniprot
proteins
pubmed
11950836
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
18400750
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21763480
uniprot
proteins
pubmed
24425863
uniprot
proteins
pubmed
24668659
uniprot
proteins
pubmed
25893793
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26086840
uniprot
proteins
pubmed
31988067
uniprot
proteins
pubmed
9506957
uniprot
proteins
pubmed
9927678
uniprot
proteins
sequence_length
335
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:21763480}; Single-pass type II membrane protein {ECO:0000269|PubMed:21763480}. Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:21763480, ECO:0000269|PubMed:25893793}.
uniprot
proteins
transmembrane_region
TRANSMEM 8..28; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins