B4GAT1 (beta-1,4-glucuronyltransferase 1)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 11041
Gene name Beta-1,4-glucuronyltransferase 1
Gene symbol B4GAT1
Synonyms (NCBI Gene)
B3GN-T1B3GNT1B3GNT6BETA3GNTIMDDGA13iGATiGNT
Chromosome 11
Chromosome location 11q13.2
Summary 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (26)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane NAS 9405606
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 19587235, 28514442
GO:0005794 Component Golgi apparatus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605517 15685 ENSG00000174684
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways 		  Keratan sulfate biosynthesis
Defective LARGE causes MDDGA6 and MDDGB6
O-linked glycosylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Likely pathogenic; Pathogenic rs730882237 RCV000162167
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 Pathogenic; Likely pathogenic rs921785357, rs2495384629, rs730882237 RCV001844326
RCV002290184
RCV000417196
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (6)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
B4GAT1-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Premature ovarian failure 16 Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (54)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Absence of septum pellucidum Absence Of Septum Pellucidum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha-Dystroglycanopathies alpha-Dystroglycanopathy CTD_human_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anencephaly Anencephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 29915430
★★★★★
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Ciliopathies Ciliopathies BEFREE 27508411
★★★★★
★☆☆☆☆
Found in Text Mining only
Cobblestone Lissencephaly Cobblestone Lissencephaly HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only