Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11041
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-1,4-glucuronyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B4GAT1
Synonyms (NCBI Gene) Gene synonyms aliases
B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MDDGA13
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It is essential for the synthesis of poly-N-acetyllactosamine, a determinant for the blood group i antigen. [provided by Ref
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 19587235, 28514442
GO:0005794 Component Golgi apparatus IDA 25279699
GO:0006493 Process Protein O-linked glycosylation TAS
GO:0008532 Function N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IDA 25279697, 25279699
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605517 15685 ENSG00000174684
Protein
UniProt ID O43505
Protein name Beta-1,4-glucuronyltransferase 1 (EC 2.4.1.-) (I-beta-1,3-N-acetylglucosaminyltransferase) (iGnT) (N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase) (Poly-N-acetyllactosamine extension enzyme) (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminy
Protein function Beta-1,4-glucuronyltransferase involved in O-mannosylation of alpha-dystroglycan (DAG1) (PubMed:19587235, PubMed:23359570, PubMed:25279697, PubMed:25279699). Transfers a glucuronic acid (GlcA) residue onto a xylose (Xyl) acceptor to produce the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13896 Glyco_transf_49 94 409 Domain
Tissue specificity TISSUE SPECIFICITY: In the adult, highly expressed in heart, brain, skeletal muscle and kidney and to a lesser extent in placenta, pancreas, spleen, prostate, testis, ovary, small intestine and colon. Very weak expression in lung, liver, thymus and periph
Sequence
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways
  Keratan sulfate biosynthesis
Defective LARGE causes MDDGA6 and MDDGB6
O-linked glycosylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anencephaly Anencephaly rs773607884
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
29915430
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29915430
Unknown
Disease term Disease name Evidence References Source
Specific learning disorder Specific learning disability ClinVar