InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DPAGT1

Summary

InnateDB Protein

IDBP-74267.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DPAGT1

Protein Name

dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)

Synonyms

ALG7; CDG-Ij; CDG1J; CMSTA2; D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT;

Species

Homo sapiens

Ensembl Protein

ENSP00000346142

InnateDB Gene

IDBG-74265 (DPAGT1)

Protein Structure

UniProt Annotation

Function

Catalyzes the initial step in the synthesis of dolichol- P-P-oligosaccharides.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Disease Associations

Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N- glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269PubMed:12872255}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2) [MIM:614750]: A congenital myasthenic syndrome characterized by muscle weakness mostly affecting proximal limb muscles, minimal involvement of facial, ocular and bulbar muscles, and tubular aggregates present on muscle biopsy. Symptoms include difficulty walking and frequent falls. Younger patients show hypotonia and poor head control. Neurophysiological features indicate a disorder of neuromuscular transmission on electromyography. {ECO:0000269PubMed:22742743}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.

Experimentally validated
Total	7 [view]
Protein-Protein	4 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003975	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity
GO:0008963	phospho-N-acetylmuramoyl-pentapeptide-transferase activity
GO:0016757	transferase activity, transferring glycosyl groups

Biological Process

GO:0006487	protein N-linked glycosylation
GO:0006488	dolichol-linked oligosaccharide biosynthetic process
GO:0018279	protein N-linked glycosylation via asparagine
GO:0019408	dolichol biosynthetic process
GO:0043687	post-translational protein modification
GO:0044267	cellular protein metabolic process
GO:0051259	protein oligomerization

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0030176	integral component of endoplasmic reticulum membrane
GO:0043231	intracellular membrane-bounded organelle