• Gene id: 55624

Gene Summary

• Gene Symbol: POMGNT1   Gene   UCSC   Ensembl
• Aliases: GNTI.2, GnT I.2, LGMD2O, LGMDR15, MEB, MGAT1.2, RP76, gnT-I.2
• Gene name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
• Alternate names: protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1, UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2,
• Gene location: 1p34.1 (46220304: 46188680)     Exons: 25     NC_000001.11
• Gene summary(Entrez): This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease an
• OMIM: 600264

Protein Summary

• Protein general information: Q8WZA1  
  • Name: Protein O linked mannose beta 1,2 N acetylglucosaminyltransferase 1 (POMGnT1) (EC 2.4.1. ) (UDP GlcNAc:alpha D mannoside beta 1,2 N acetylglucosaminyltransferase I.2) (GnT I.2)
  • Length: 660  
  • Mass: 75252
  • Tissue specificity: Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons. {ECO
• Sequence:

  MDDWKPSPLIKPFGARKKRSWYLTWKYKLTNQRALRRFCQTGAVLFLLVTVIVNIKLILDTRRAISEANEDPEPE
  QDYDEALGRLEPPRRRGSGPRRVLDVEVYSSRSKVYVAVDGTTVLEDEAREQGRGIHVIVLNQATGHVMAKRVFD
  TYSPHEDEAMVLFLNMVAPGRVLICTVKDEGSFHLKDTAKALLRSLGSQAGPALGWRDTWAFVGRKGGPVFGEKH
  SKSPALSSWGDPVLLKTDVPLSSAEEAECHWADTELNRRRRRFCSKVEGYGSVCSCKDPTPIEFSPDPLPDNKVL
  NVPVAVIAGNRPNYLYRMLRSLLSAQGVSPQMITVFIDGYYEEPMDVVALFGLRGIQHTPISIKNARVSQHYKAS
  LTATFNLFPEAKFAVVLEEDLDIAVDFFSFLSQSIHLLEEDDSLYCISAWNDQGYEHTAEDPALLYRVETMPGLG
  WVLRRSLYKEELEPKWPTPEKLWDWDMWMRMPEQRRGRECIIPDVSRSYHFGIVGLNMNGYFHEAYFKKHKFNTV
  PGVQLRNVDSLKKEAYEVEVHRLLSEAEVLDHSKNPCEDSFLPDTEGHTYVAFIRMEKDDDFTTWTQLAKCLHIW
  DLDVRGNHRGLWRLFRKKNHFLMVGVPASPYSVKKPPSVTPIFLEPPPKEEGAPGAPEQT

• Structural information:
  • Interpro: IPR004139  IPR039477  IPR029044  IPR039474  
  • CDD: cd13937
  • PDB: 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC
  • PDBsum: 5GGF 5GGG 5GGI 5GGJ 5GGK 5GGL 5GGN 5GGO 5GGP 5XFC
  • STRING: ENSP00000361060
• Other Databases: GeneCards:  POMGNT1  Malacards:  POMGNT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047223	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IBA	molecular function
GO:0030173	integral component of Golgi membrane	IBA	cellular component
GO:0016266	O-glycan processing	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006493	protein O-linked glycosylation	IBA	biological process
GO:0016266	O-glycan processing	IDA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IDA	molecular function
GO:0030173	integral component of Golgi membrane	IDA	cellular component
GO:0030145	manganese ion binding	IDA	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IMP	molecular function
GO:0008375	acetylglucosaminyltransferase activity	IMP	molecular function
GO:0006493	protein O-linked glycosylation	IMP	biological process
GO:0006493	protein O-linked glycosylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	IMP	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0008375	acetylglucosaminyltransferase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016757	transferase activity, transferring glycosyl groups	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0047223	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	IDA	molecular function
GO:0006493	protein O-linked glycosylation	IDA	biological process
GO:0006493	protein O-linked glycosylation	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0047223	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006493	protein O-linked glycosylation	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
hsa00515	Mannose type O-glycan biosynthesis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Limb-girdle muscular dystrophy	KEGG:H00593
Muscular dystrophy-dystroglycanopathy type A	KEGG:H00120
Muscular dystrophy-dystroglycanopathy	KEGG:H02307
Muscular dystrophy-dystroglycanopathy type C	KEGG:H01959
Muscular dystrophy-dystroglycanopathy type B	KEGG:H01960
Lissencephaly	PMID:17559086
Walker-Warburg syndrome	PMID:23689641
Walker-Warburg syndrome	PMID:22554691
Walker-Warburg syndrome	PMID:15236414
Walker-Warburg syndrome	PMID:11709191
Muscular dystrophy	PMID:17030669
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881