B3GAT1 (beta-1,3-glucuronyltransferase 1)

Gene

• Entrez ID: 27087
• Gene name: Beta-1,3-glucuronyltransferase 1
• Gene symbol: B3GAT1
• Synonyms: CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1
• Chromosome: 11
• Chromosome location: 11q25
• Summary: 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

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
MIRT813110	hsa-miR-3140-5p	CLIP-seq
MIRT813111	hsa-miR-3162-5p	CLIP-seq
MIRT813112	hsa-miR-3646	CLIP-seq
MIRT813113	hsa-miR-3647-3p	CLIP-seq
MIRT813114	hsa-miR-3662	CLIP-seq
MIRT813115	hsa-miR-3911	CLIP-seq
MIRT813116	hsa-miR-3973	CLIP-seq
MIRT813117	hsa-miR-4419a	CLIP-seq
MIRT813118	hsa-miR-4459	CLIP-seq
MIRT813119	hsa-miR-4494	CLIP-seq
MIRT813120	hsa-miR-4510	CLIP-seq
MIRT813121	hsa-miR-4528	CLIP-seq
MIRT813122	hsa-miR-4653-3p	CLIP-seq
MIRT813123	hsa-miR-4663	CLIP-seq
MIRT813124	hsa-miR-4722-5p	CLIP-seq
MIRT813125	hsa-miR-4779	CLIP-seq
MIRT813126	hsa-miR-486-3p	CLIP-seq
MIRT813127	hsa-miR-488	CLIP-seq
MIRT813128	hsa-miR-520g	CLIP-seq
MIRT813129	hsa-miR-520h	CLIP-seq
MIRT813130	hsa-miR-582-5p	CLIP-seq
MIRT813131	hsa-miR-644	CLIP-seq
MIRT813132	hsa-miR-4742-3p	CLIP-seq
MIRT813133	hsa-miR-4775	CLIP-seq
MIRT813134	hsa-miR-548a-3p	CLIP-seq
MIRT813135	hsa-miR-548e	CLIP-seq
MIRT813136	hsa-miR-548f	CLIP-seq
MIRT813137	hsa-miR-548g	CLIP-seq
MIRT813138	hsa-miR-590-3p	CLIP-seq
MIRT1940375	hsa-miR-1827	CLIP-seq
MIRT1940376	hsa-miR-3150a-3p	CLIP-seq
MIRT1940377	hsa-miR-3175	CLIP-seq
MIRT1940378	hsa-miR-939	CLIP-seq
MIRT2179290	hsa-miR-1976	CLIP-seq
MIRT2179291	hsa-miR-3124-3p	CLIP-seq
MIRT2179292	hsa-miR-3978	CLIP-seq
MIRT2179293	hsa-miR-665	CLIP-seq
MIRT2444556	hsa-miR-1913	CLIP-seq
MIRT2444557	hsa-miR-324-3p	CLIP-seq
MIRT2444556	hsa-miR-1913	CLIP-seq
MIRT2444557	hsa-miR-324-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA	21873635
GO:0000139	Component	Golgi membrane	ISS
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005975	Process	Carbohydrate metabolic process	IBA	21873635
GO:0006486	Process	Protein glycosylation	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA	21873635
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	ISS
GO:0016021	Component	Integral component of membrane	IEA
GO:0030203	Process	Glycosaminoglycan metabolic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA	21873635
GO:0071456	Process	Cellular response to hypoxia	IEA

Other IDs

• MIM: 151290
• HGNC: 921
• e!Ensembl: ENSG00000109956

Protein

• 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

• Sequence:

  MPKRRDILAIVLIVLPWTLLITVWHQSTLAPLLAVHKDEGSDPRRETPPGADPREYCTSD
  RDIVEVVRTEYVYTRPPPWSDTLPTIHVVTPTYSRPVQKAELTRMANTLLHVPNLHWLVV
  EDAPRRTPLTARLLRDTGLNYTHLHVETPRNYKLRGDARDPRIPRGTMQRNLALRWLRET
  FPRNSSQPGVVYFADDDNTYSLELFEEMRSTRRVSVWPVAFVGGLRYEAPRVNGAGKVVG
  WKTVFDPHRPFAIDMAGFAVNLRLILQRSQAYFKLRGVKGGYQESSLLRELVTLNDLEPK
  AANCTKILVWHTRTEKPVLVNEGKKGFTDPSVEI

• Sequence length: 334

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

Reactome:

A tetrasaccharide linker sequence is required for GAG synthesis

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Prostate cancer	Prostate carcinoma, Prostate cancer, familial	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	29892016
Prostate cancer, hereditary	PROSTATE CANCER, HEREDITARY, 1	rs387906327, rs193929331, rs74315365, rs10993994, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466	29892016
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	20950796

Unknown
Disease name	Disease term	dbSNP ID	References
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		24211274