• Gene id: 25834

Gene Summary

• Gene Symbol: MGAT4C   Gene   UCSC   Ensembl
• Aliases: GNTIVH, HGNT-IV-H
• Gene name: MGAT4 family member C
• Alternate names: alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C, N-acetylglucosaminyltransferase IV homolog, N-acetylglucosaminyltransferase IVc, N-glycosyl-oligosaccharide-glycoprotein N-acetylglucosaminyltransferase IVc, UDP-N-acetylglucosamine: al,
• Gene location: 12q21.31-q21.32 (129540258: 129592555)     Exons: 24     NC_000023.11
• OMIM: 607385

Protein Summary

• Protein general information: Q9UBM8  
  • Name: Alpha 1,3 mannosyl glycoprotein 4 beta N acetylglucosaminyltransferase C (EC 2.4.1.145) (N acetylglucosaminyltransferase IV homolog) (hGnT IV H) (N glycosyl oligosaccharide glycoprotein N acetylglucosaminyltransferase IVc) (GlcNAc T IVc) (GnT IVc) (N acet
  • Length: 478  
  • Mass: 56061
  • Tissue specificity: Expressed in heart, adrenal gland, testis, liver, brain and fetal brain. Not expressed in pancreas. {ECO
• Sequence:

  MFKFHQMKHIFEILDKMRCLRKRSTVSFLGVLVIFLLFMNLYIEDSYVLEGDKQLIRETSTHQLNSERYVHTFKD
  LSNFSGAINVTYRYLAATPLQRKRYLTIGLSSVKRKKGNYLLETIKSIFEQSSYEELKEISVVVHLADFNSSWRD
  AMVQDITQKFAHHIIAGRLMVIHAPEEYYPILDGLKRNYNDPEDRVKFRSKQNVDYAFLLNFCANTSDYYVMLED
  DVRCSKNFLTAIKKVIASLEGTYWVTLEFSKLGYIGKLYHSHDLPRLAHFLLMFYQEMPCDWLLTHFRGLLAQKN
  VIRFKPSLFQHMGYYSSYKGTENKLKDDDFEEESFDIPDNPPASLYTNMNVFENYEASKAYSSVDEYFWGKPPST
  GDVFVIVFENPIIIKKIKVNTGTEDRQNDILHHGALDVGENVMPSKQRRQCSTYLRLGEFKNGNFEMSGVNQKIP
  FDIHCMRIYVTKTQKEWLIIRSISIWTS

• Structural information:
  • Interpro: IPR008979  IPR006759  
  • STRING: ENSP00000481096
• Other Databases: GeneCards:  MGAT4C  Malacards:  MGAT4C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008375	acetylglucosaminyltransferase activity	IBA	molecular function
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
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:0008454	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	IEA	molecular function
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis
hsa00513	Various types of N-glycan biosynthesis

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray