B3GLCT
entrez
145173
canonical
uniprot
Q6Y288
canonical
ensembl
ENSG00000187676
resolver
ensp
ENSP00000343002
resolver
enst
ENST00000343307
resolver
genesymbol
B3GLCT
resolver
genesymbol_syn
B3GALTL
resolver
genesymbol_syn
B3GTL
resolver
hgnc
HGNC:20207
resolver
uniprot
A8K5F8
resolver
uniprot
Q5W0H2
resolver
uniprot
Q6NUI3
resolver
uniprot_entry
B3GLT_HUMAN
resolver
uniprot_sec
A8K5F8
resolver
uniprot_sec
Q5W0H2
resolver
uniprot_sec
Q6NUI3
resolver
amino_acid_sequence
MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVFVIQSQSNSFHAKRAEQLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVTYSRNSSWIFFCEEETRIQIPKLLETLRRYDPSKEWFLGKALHDEEATIIHHYAFSENPTVFKYPDFAAGWALSIPLVNKLTKRLKSESLKSDFTIDLKHEIALYIWDKGGGPPLTPVPEFCTNDVDFYCATTFHSFLPLCRKPVKKKDIFVAVKTCKKFHGDRIPIVKQTWESQASLIEYYSDYTENSIPTVDLGIPNTDRGHCGKTFAILERFLNRSQDKTAWLVIVDDDTLISISRLQHLLSCYDSGEPVFLGERYGYGLGTGGYSYITGGGGMVFSREAVRRLLASKCRCYSNDAPDDMVLGMCFSGLGIPVTHSPLFHQARPVDYPKDYLSHQVPISFHKHWNIDPVKVYFTWLAPSDEDKARQETQKGFREEL
uniprot
proteins
disease_involvement
DISEASE: Peters-plus syndrome (PTRPLS) [MIM:261540]: An autosomal recessive disorder characterized by anterior eye-chamber abnormalities, disproportionate short stature, developmental delay, characteristic craniofacial features, cleft lip and/or palate. {ECO:0000269|PubMed:16909395}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.4.1.-
uniprot
proteins
function
FUNCTION: Beta-1,3-glucosyltransferase involved in one of the two pathways responsible for protein O-linked fucosylation, a unique post-translational modification of cysteine-knotted proteins that regulates various biological processes. This pathway targets proteins with Thrombospondin type-1 (TSP1) repeats (TSR) in the endoplasmic reticulum. It starts with POFUT2, which attaches fucose via an O-glycosidic bond to a conserved serine or threonine residue. B3GLCT extends this modification by transferring a glucose molecule from UDP-glucose to the fucose. {ECO:0000269|PubMed:16899492}.
uniprot
proteins
mass_dalton
56564
uniprot
proteins
mutagenesis
MUTAGEN 495..498; /note="Missing: Abolishes endoplasmic reticulum localization."; /evidence="ECO:0000269|PubMed:16899492
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:16899492}.
uniprot
proteins
protein_family
Glycosyltransferase 31 family
uniprot
proteins
pubmed
12943678
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16899492
uniprot
proteins
pubmed
16909395
uniprot
proteins
sequence_length
498
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000255|PROSITE-ProRule:PRU10138, ECO:0000269|PubMed:16899492}; Single-pass type II membrane protein {ECO:0000305|PubMed:16899492}.
uniprot
proteins
transmembrane_region
TRANSMEM 7..27; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins