• Gene id: 26229

Gene Summary

• Gene Symbol: B3GAT3   Gene   UCSC   Ensembl
• Aliases: GLCATI, JDSCD, glcUAT-I
• Gene name: beta-1,3-glucuronyltransferase 3
• Alternate names: galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3, Sqv-8-like protein, UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase, beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I),
• Gene location: 11q12.3 (62621985: 62615295)     Exons: 6     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the

Protein Summary

• Protein general information: O94766  
  • Name: Galactosylgalactosylxylosylprotein 3 beta glucuronosyltransferase 3 (EC 2.4.1.135) (Beta 1,3 glucuronyltransferase 3) (Glucuronosyltransferase I) (GlcAT I) (UDP GlcUA:Gal beta 1,3 Gal R glucuronyltransferase) (GlcUAT I)
  • Length: 335  
  • Mass: 37122
  • Tissue specificity: Ubiquitous (but weakly expressed in all tissues examined).
• Sequence:

  MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRRPPPAPAQPPEPEALP
  TIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPLVSGLLAASGLLFTHLVVLTPKAQRLREGEP
  GWVHPRGVEQRNKALDWLRGRGGAVGGEKDPPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLR
  FEGPQVQDGRVVGFHTAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAAN
  CTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV

• Structural information:
  • Interpro: IPR005027  IPR029044  
  • CDD: cd00218
  • PDB: 1FGG 1KWS 3CU0
  • PDBsum: 1FGG 1KWS 3CU0
  • STRING: ENSP00000265471
• Other Databases: GeneCards:  B3GAT3  Malacards:  B3GAT3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IBA	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA	molecular function
GO:0005975	carbohydrate metabolic process	IBA	biological process
GO:0000139	Golgi membrane	IBA	cellular component
GO:0072542	protein phosphatase activator activity	IDA	molecular function
GO:0005801	cis-Golgi network	IDA	cellular component
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0043085	positive regulation of catalytic activity	IDA	biological process
GO:0005801	cis-Golgi network	IDA	cellular component
GO:0090316	positive regulation of intracellular protein transport	IMP	biological process
GO:0050651	dermatan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IMP	biological process
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA	molecular function
GO:0050651	dermatan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015012	heparan sulfate proteoglycan biosynthetic process	IDA	biological process
GO:0015020	glucuronosyltransferase activity	IMP	molecular function
GO:0030203	glycosaminoglycan metabolic process	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0043666	regulation of phosphoprotein phosphatase activity	IEA	biological process
GO:0006486	protein glycosylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0015018	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0006024	glycosaminoglycan biosynthetic process	NAS	biological process
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00534	Glycosaminoglycan biosynthesis - heparan sulfate / heparin
hsa00532	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate

Diseases

Associated diseases	References
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	KEGG:H01498
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	KEGG:H01498
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq