B4GAT1 (beta-1,4-glucuronyltransferase 1)

Gene

• Entrez ID: 11041
• Gene name: Beta-1,4-glucuronyltransferase 1
• Gene symbol: B4GAT1
• Synonyms (NCBI Gene): B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT
• 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)

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
GO:0005794	Component	Golgi apparatus	IDA	25279699
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IMP	23359570
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0008532	Function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA	25279697, 25279699
GO:0008532	Function	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	TAS
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	IDA	25279697, 25279699
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0015020	Function	Glucuronosyltransferase activity	IMP	23359570
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018146	Process	Keratan sulfate proteoglycan biosynthetic process	TAS
GO:0030311	Process	Poly-N-acetyllactosamine biosynthetic process	IDA	25279697, 25279699
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IDA	25279697, 25279699
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 605517
• HGNC: 15685
• e!Ensembl: 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:

  MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVK
  AQLRTALASGGVLDASGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPL
  SVSVFAATKEEAQLATVLAYALSSHCPDMRARVAMHLVCPSRYEAAVPDPREPGEFALLR
  SCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALVIDVDMVPSEGLWRGL
  REMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTN
  YSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAG
  FDFEVLNEGFLVHKGFKEALKFHPQKEAENQHNKILYRQFKQELKAKYPNSPRRC

• Sequence length: 415

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

Keratan sulfate biosynthesis
Defective LARGE causes MDDGA6 and MDDGB6
O-linked glycosylation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Likely pathogenic; Pathogenic	rs730882237	RCV000162167
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13	Pathogenic; Likely pathogenic	rs921785357, rs2495384629, rs730882237	RCV001844326 RCV002290184 RCV000417196

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
B4GAT1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1008736415, rs1172561316, rs756392214, rs762176341, rs2495386192, rs142956522, rs765114036, rs139287952, rs531686913	RCV003399188 RCV003900506 RCV004746466 RCV003973632 RCV003420696 RCV003942589 RCV003960129 RCV003962586 RCV003908311
Premature ovarian failure 16	Uncertain significance	rs562459083	RCV005861258