• Gene id: 2650

Gene Summary

• Gene Symbol: GCNT1   Gene   UCSC   Ensembl
• Aliases: C2GNT, C2GNT-L, C2GNT1, G6NT, NACGT2, NAGCT2
• Gene name: glucosaminyl (N-acetyl) transferase 1
• Alternate names: beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase, beta-1,6-N-acetylglucosaminyltransferase, core 2 GnT, core 2 beta-1,6-N-acetylglucosaminyltransferase I, core 2 beta1,6 N-acetylglucosaminyltransferase-I, core 2 branching en,
• Gene location: 9q21.13 (76441665: 76507415)     Exons: 6     NC_000009.12
• Gene summary(Entrez): This gene is a member of the beta-1,6-N-acetylglucosaminyltransferase gene family. It is essential to the formation of Gal beta 1-3(GlcNAc beta 1-6)GalNAc structures and the core 2 O-glycan branch. The gene coding this enzyme was originally mapped to 9q21
• OMIM: 142880

Protein Summary

• Protein general information: Q02742  
  • Name: Beta 1,3 galactosyl O glycosyl glycoprotein beta 1,6 N acetylglucosaminyltransferase (EC 2.4.1.102) (Core 2 branching enzyme) (Core2 GlcNAc transferase) (C2GNT) (Core 2 GNT)
  • Length: 428  
  • Mass: 49799
  • Tissue specificity: Highly expressed in activated T-lymphocytes and myeloid cells.
• Sequence:

  MLRTLLRRRLFSYPTKYYFMVLVLSLITFSVLRIHQKPEFVSVRHLELAGENPSSDINCTKVLQGDVNEIQKVKL
  EILTVKFKKRPRWTPDDYINMTSDCSSFIKRRKYIVEPLSKEEAEFPIAYSIVVHHKIEMLDRLLRAIYMPQNFY
  CIHVDTKSEDSYLAAVMGIASCFSNVFVASRLESVVYASWSRVQADLNCMKDLYAMSANWKYLINLCGMDFPIKT
  NLEIVRKLKLLMGENNLETERMPSHKEERWKKRYEVVNGKLTNTGTVKMLPPLETPLFSGSAYFVVSREYVGYVL
  QNEKIQKLMEWAQDTYSPDEYLWATIQRIPEVPGSLPASHKYDLSDMQAVARFVKWQYFEGDVSKGAPYPPCDGV
  HVRSVCIFGAGDLNWMLRKHHLFANKFDVDVDLFAIQCLDEHLRHKALETLKH

• Structural information:
  • Interpro: IPR003406  
  • STRING: ENSP00000415454
• Other Databases: GeneCards:  GCNT1  Malacards:  GCNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005802	trans-Golgi network	IDA	cellular component
GO:0031985	Golgi cisterna	IDA	cellular component
GO:0060352	cell adhesion molecule production	IMP	biological process
GO:0009101	glycoprotein biosynthetic process	IMP	biological process
GO:0050901	leukocyte tethering or rolling	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0003829	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	TAS	molecular function
GO:0016021	integral component of membrane	TAS	cellular component
GO:0003829	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0016266	O-glycan processing	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0060993	kidney morphogenesis	IEA	biological process
GO:0003829	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0032868	response to insulin	IEA	biological process
GO:0048729	tissue morphogenesis	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00512	Mucin type O-glycan biosynthesis

Diseases

Associated diseases	References
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881