B3GAT1 (beta-1,3-glucuronyltransferase 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
27087
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-1,3-glucuronyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B3GAT1
Synonyms (NCBI Gene) Gene synonyms aliases
CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q25
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(46)
miRTarBase ID miRNA Experiments Reference
MIRT021807 hsa-miR-132-3p Microarray 17612493
MIRT813106 hsa-miR-1225-3p CLIP-seq
MIRT813107 hsa-miR-1233 CLIP-seq
MIRT813108 hsa-miR-147 CLIP-seq
MIRT813109 hsa-miR-1915 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane ISS
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
151290 921 ENSG00000109956
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9P2W7
Protein name Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 1) (Glucuronosyltransferase P) (GlcAT-P) (UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase) (GlcUAT-P)
Protein function Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on glycoproteins. Can also play a role in glycosaminoglycan biosynthesis. Substrates include asialo-orosomucoid (ASOR), asialo-fetuin, and asialo-neural cell adhesion molecule. Requir
PDB 1V82 , 1V83 , 1V84
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03360 Glyco_transf_43 105 → 315 Glycosyltransferase family 43 Family
Tissue specificity TISSUE SPECIFICITY: Mainly expressed in the brain.
Sequence
Sequence length 334
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways 		  A tetrasaccharide linker sequence is required for GAG synthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dyslexia Dyslexia N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (145)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 37880915, 3965066, 9528899
Acute Coronary Syndrome Associate 25152079
Adenoma Associate 1381333, 26248896
Adenoma Pleomorphic Associate 17824792
Adrenal Gland Neoplasms Associate 24322017
AIDS Related Complex Associate 2415279
Anemia Aplastic Associate 11698122, 29419434
Anthropophobia Associate 32369455
Aortic Aneurysm Thoracic Stimulate 23868000
Arthritis Rheumatoid Associate 22102879, 2972742