• Gene id: 1798

Gene Summary

• Gene Symbol: DPAGT1   Gene   UCSC   Ensembl
• Aliases: ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT
• Gene name: dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
• Alternate names: UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase, GlcNAc-1-P transferase 1, N-acetylglucosamine-1-phosphate transferase, UDP-GlcNAc:dolichyl-phosphate N-acetylglucosaminephosphotransferase, UDP-N-acetylglucosamine--dolichyl-ph,
• Gene location: 11q23.3 (119101883: 119096504)     Exons: 9     NC_000011.10
• Gene summary(Entrez): The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein
• OMIM: 191350

Protein Summary

• Protein general information: Q9H3H5  
  • Name: UDP N acetylglucosamine dolichyl phosphate N acetylglucosaminephosphotransferase (EC 2.7.8.15) (GlcNAc 1 P transferase) (G1PT) (GPT) (N acetylglucosamine 1 phosphate transferase)
  • Length: 408  
  • Mass: 46090
• Sequence:

  MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQDLNKTSRQQIPESQGVISGAVFLIILFCFIP
  FPFLNCFVKEQCKAFPHHEFVALIGALLAICCMIFLGFADDVLNLRWRHKLLLPTAASLPLLMVYFTNFGNTTIV
  VPKPFRPILGLHLDLGILYYVYMGLLAVFCTNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCRDDHVFSL
  YFMIPFFFTTLGLLYHNWYPSRVFVGDTFCYFAGMTFAVVGILGHFSKTMLLFFMPQVFNFLYSLPQLLHIIPCP
  RHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFILKVAESLQLVTVHQSETEDGEFTECNNMTLINLLLKVLGPIH
  ERNLTLLLLLLQILGSAITFSIRYQLVRLFYDV

• Structural information:
  • Interpro: IPR000715  IPR033895  
  • CDD: cd06855
  • PDB: 5LEV 5O5E 6BW5 6BW6 6FM9 6FWZ
  • PDBsum: 5LEV 5O5E 6BW5 6BW6 6FM9 6FWZ
  • STRING: ENSP00000386597
• Other Databases: GeneCards:  DPAGT1  Malacards:  DPAGT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006489	dolichyl diphosphate biosynthetic process	IBA	biological process
GO:0016021	integral component of membrane	IBA	cellular component
GO:0006487	protein N-linked glycosylation	IBA	biological process
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IBA	molecular function
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IDA	biological process
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IDA	molecular function
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IEA	biological process
GO:0008963	phospho-N-acetylmuramoyl-pentapeptide-transferase activity	IEA	molecular function
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IEA	molecular function
GO:0006487	protein N-linked glycosylation	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	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:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IEA	molecular function
GO:0003976	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA	molecular function
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	TAS	biological process
GO:0006488	dolichol-linked oligosaccharide biosynthetic process	IEA	biological process
GO:0019348	dolichol metabolic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IEA	molecular function
GO:0006047	UDP-N-acetylglucosamine metabolic process	IEA	biological process
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0006486	protein glycosylation	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IDA	molecular function
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IMP	molecular function
GO:0042802	identical protein binding	ISS	molecular function
GO:0016021	integral component of membrane	ISS	cellular component
GO:0006487	protein N-linked glycosylation	IMP	biological process
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0030176	integral component of endoplasmic reticulum membrane	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00510	N-Glycan biosynthesis

Diseases

Associated diseases	References
Congenital myasthenic syndrome	KEGG:H00770
Congenital disorders of glycosylation type I	KEGG:H00118
Congenital myasthenic syndrome	KEGG:H00770
Congenital disorders of glycosylation type I	KEGG:H00118
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)