• Gene id: 11041

Gene Summary

• Gene Symbol: B4GAT1   Gene   UCSC   Ensembl
• Aliases: B3GN-T1, B3GNT1, B3GNT6, BETA3GNTI, MDDGA13, iGAT, iGNT
• Gene name: beta-1,4-glucuronyltransferase 1
• Alternate names: beta-1,4-glucuronyltransferase 1, N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1, UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6, beta-1,3-N-acetylglucosaminyltransf,
• Gene location: 11q13.2 (186570719: 186585792)     Exons: 11     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 605517

Protein Summary

• Protein general information: O43505  
  • 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
  • Length: 415  
  • Mass: 47119
  • 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:

  MQMSYAIRCAFYQLLLAALMLVAMLQLLYLSLLSGLHGQEEQDQYFEFFPPSPRSVDQVKAQLRTALASGGVLDA
  SGDYRVYRGLLKTTMDPNDVILATHASVDNLLHLSGLLERWEGPLSVSVFAATKEEAQLATVLAYALSSHCPDMR
  ARVAMHLVCPSRYEAAVPDPREPGEFALLRSCQEVFDKLARVAQPGINYALGTNVSYPNNLLRNLAREGANYALV
  IDVDMVPSEGLWRGLREMLDQSNQWGGTALVVPAFEIRRARRMPMNKNELVQLYQVGEVRPFYYGLCTPCQAPTN
  YSRWVNLPEESLLRPAYVVPWQDPWEPFYVAGGKVPTFDERFRQYGFNRISQACELHVAGFDFEVLNEGFLVHKG
  FKEALKFHPQKEAENQHNKILYRQFKQELKAKYPNSPRRC

• Structural information:
  • DIP: 48921
  • STRING: ENSP00000309096
• Other Databases: GeneCards:  B4GAT1  Malacards:  B4GAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA	NOT|molecular function
GO:0008532	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	IDA	NOT|molecular function
GO:0035269	protein O-linked mannosylation	IDA	biological process
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IDA	NOT|biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0030311	poly-N-acetyllactosamine biosynthetic process	IDA	NOT|biological process
GO:0015020	glucuronosyltransferase activity	IDA	molecular function
GO:0006486	protein glycosylation	IEA	biological process
GO:0015020	glucuronosyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030173	integral component of Golgi membrane	NAS	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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