Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	27087
Gene name	Beta-1,3-glucuronyltransferase 1
Gene symbol	B3GAT1
Synonyms (NCBI Gene)	CD57GLCATPGLCUATPHNK1LEU7NK-1NK1
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

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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

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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
GO:0005576	Component	Extracellular region	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0005975	Process	Carbohydrate metabolic process	TAS	10783264
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0008542	Process	Visual learning	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10783264
GO:0016740	Function	Transferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA

MIM	HGNC	e!Ensembl
151290	921	ENSG00000109956

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

MPKRRDILAIVLIVLPWTLLITVWHQSTLAPLLAVHKDEGSDPRRETPPGADPREYCTSD
RDIVEVVRTEYVYTRPPPWSDTLPTIHVVTPTYSRPVQKAELTRMANTLLHVPNLHWLVV
EDAPRRTPLTARLLRDTGLNYTHLHVETPRNYKLRGDARDPRIPRGTMQRNLALRWLRET
FPRNSSQPGVVYFADDDNTYSLELFEEMRSTRRVSVWPVAFVGGLRYEAPRVNGAGKVVG
WKTVFDPHRPFAIDMAGFAVNLRLILQRSQAYFKLRGVKGGYQESSLLRELVTLNDLEPK
AANCTKILVWHTRTEKPVLVNEGKKGFTDPSVEI

Sequence length

334

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Mannose type O-glycan biosynthesis	A tetrasaccharide linker sequence is required for GAG synthesis
Metabolic pathways

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (8)
INSOMNIA	—	GWAS catalog	30804565, 35835914	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	40341939	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	24211274	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	29892016, 33398198, 37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	29892016	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	29892016, 33398198, 37945903	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (187)
ACTIVATED PI3K-DELTA SYNDROME	ACTIVATED PI3K-DELTA SYNDROME	BEFREE	29790605		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15626024, 21120581, 3487974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15626024, 21120581, 3487974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	16353293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	17824792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	2654472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	11740050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	11698122, 29419434	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	15845098		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	15845098		★★★★★ ★☆☆☆☆ Found in Text Mining only

B3GAT1 (beta-1,3-glucuronyltransferase 1)

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