beta 3-glucosyltransferase

Summary
Gene Symbol
  • B3GLCT
Aliases
  • B3GTL
  • B3Glc-T
  • beta-1,3-glucosyltransferase
Organism
Homo sapiens (human)
External Links
NCBI Gene
145173
GGDB ID
HGNC
20207
mRNA
map
  • 13q12.3
Protein
OMIM
KEGG Gene ID
hsa:145173
PubChem
145173
Alliance of Genome Resources
Annotation
Keyword
  • Congenital disorder of glycosylation
  • Dwarfism
  • Endoplasmic reticulum
  • Fucose metabolism
  • Glycoprotein
  • Glycosyltransferase
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q6Y288
  • Beta 3-glucosyltransferase
  • Beta-3-glycosyltransferase-like
Gene Ontology (GO)
Displaying all 2 entries
GO Term Evidence Code PMID
fucose metabolic process
protein O-linked fucosylation
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg184
Gene Symbol
  • B3GLCT
Reactions
Displaying 1 entry
Donor Acceptor Product Reference
UDP-Glc
G96881BQ
G36855WW
Displaying all 3 entries
Donor Acceptor Product Reference
UDP-Glc
G61459JW
G70899NZ
UDP-Glc
G96881BQ
G36855WW
UDP-Glc
G39023AU
G71649FF
Displaying entries 1 - 10 of 16 in total
Donor Acceptor Product Reference
UDP-Glc
G40696TO
UDP-GlcNAc
G96881BQ
UDP-Glc
G61491DK
UDP-Glc
G57321FI
UDP-GalNAc
G96881BQ
UDP-Glc
G96881BQ
UDP-Gal
G96881BQ
UDP-Glc
G71142DF
UDP-Glc
G61418DU
UDP-Glc
G65889KE
Orthologous Gene
Displaying 1 entry
Species Protein mRNA
Mus musculus NP_001074673 NM_001081204
KEGG BRITE Database
Orthology
K13675
Name
UDP-glucose:O-linked fucose beta-1,3-glucosyltransferase [EC:2.4.1.-]
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 92 in total
DO ID Disease Name Source
DOID:0050328 congenital hypothyroidism
DOID:0050778 Meckel syndrome
DOID:0060041 autism spectrum disorder
DOID:0060055 popliteal pterygium syndrome
DOID:0060249 scoliosis
DOID:0060260 ptosis
DOID:0060261 congenital ptosis
DOID:0060287 cornea plana
DOID:0060320 inguinal hernia
DOID:0060321 umbilical hernia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 134 in total
HPO ID HPO Term
HP:0000003 Multicystic kidney dysplasia
HP:0000007 Autosomal recessive inheritance
HP:0000013 Hypoplasia of the uterus
HP:0000023 Inguinal hernia
HP:0000028 Cryptorchidism
HP:0000047 Hypospadias
HP:0000059 Hypoplastic labia majora
HP:0000060 Clitoral hypoplasia
HP:0000073 Ureteral duplication
HP:0000075 Renal duplication
Displaying all 2 entries
Disease ID Disease Name
OMIM:261540
  • Peters plus syndrome
ORPHA:709
  • Peters plus syndrome
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024