• Gene id: 27087

Gene Summary

• Gene Symbol: B3GAT1   Gene   UCSC   Ensembl
• Aliases: CD57, GLCATP, GLCUATP, HNK1, LEU7, NK-1, NK1
• Gene name: beta-1,3-glucuronyltransferase 1
• Alternate names: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1, LEU7 antigen, UDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferase, glucuronosyltransferase P,
• Gene location: 11q25 (56392370: 56406361)     Exons: 7     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 151290

Protein Summary

• Protein general information: Q9P2W7  
  • 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)
  • Length: 334  
  • Mass: 38256
  • Tissue specificity: Mainly expressed in the brain.
• Sequence:

  MPKRRDILAIVLIVLPWTLLITVWHQSTLAPLLAVHKDEGSDPRRETPPGADPREYCTSDRDIVEVVRTEYVYTR
  PPPWSDTLPTIHVVTPTYSRPVQKAELTRMANTLLHVPNLHWLVVEDAPRRTPLTARLLRDTGLNYTHLHVETPR
  NYKLRGDARDPRIPRGTMQRNLALRWLRETFPRNSSQPGVVYFADDDNTYSLELFEEMRSTRRVSVWPVAFVGGL
  RYEAPRVNGAGKVVGWKTVFDPHRPFAIDMAGFAVNLRLILQRSQAYFKLRGVKGGYQESSLLRELVTLNDLEPK
  AANCTKILVWHTRTEKPVLVNEGKKGFTDPSVEI

• Structural information:
  • Interpro: IPR005027  IPR029044  
  • CDD: cd00218
  • PDB: 1V82 1V83 1V84
  • PDBsum: 1V82 1V83 1V84
  • STRING: ENSP00000433847
• Other Databases: GeneCards:  B3GAT1  Malacards:  B3GAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IBA	cellular component
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA	molecular function
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0000139	Golgi membrane	ISS	cellular component
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	ISS	molecular function
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0005975	carbohydrate metabolic process	TAS	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0030203	glycosaminoglycan metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071456	cellular response to hypoxia	IEA	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0008499	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq