Human Gene DPAGT1 (ENST00000354202.9_6) from GENCODE V45lift37
Description: Homo sapiens dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 (DPAGT1), mRNA. (from RefSeq NM_001382) RefSeq Summary (NM_001382): 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 of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000354202.9_6 Gencode Gene: ENSG00000172269.20_13 Transcript (Including UTRs) Position: hg19 chr11:118,967,220-118,972,563 Size: 5,344 Total Exon Count: 9 Strand: - Coding Region Position: hg19 chr11:118,967,708-118,972,365 Size: 4,658 Coding Exon Count: 9
ID:GPT_HUMAN DESCRIPTION: RecName: Full=UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase; EC=2.7.8.15 ; AltName: Full=GlcNAc-1-P transferase ; Short=G1PT; Short=GPT ; AltName: Full=N-acetylglucosamine-1-phosphate transferase; FUNCTION: Catalyzes the initial step of dolichol-linked oligosaccharide biosynthesis in N-linked protein glycosylation pathway: transfers GlcNAc-1-P from UDP-GlcNAc onto the carrier lipid dolichyl phosphate (P-dolichol), yielding GlcNAc-P-P-dolichol. CATALYTIC ACTIVITY: Reaction=a dolichyl phosphate + UDP-N-acetyl-alpha-D-glucosamine = N- acetyl-alpha-D-glucosaminyl-diphosphodolichol + UMP; Xref=Rhea:RHEA:13289, Rhea:RHEA-COMP:9517, Rhea:RHEA-COMP:9519, ChEBI:CHEBI:57683, ChEBI:CHEBI:57705, ChEBI:CHEBI:57865, ChEBI:CHEBI:58427; EC=2.7.8.15; Evidence= COFACTOR: Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence=; ACTIVITY REGULATION: Activated by mannosylphosphoryldolichol and phospholipids such as phosphatidylglycerol and phosphatidylcholine (Probable). Inhibited by natural nucleoside antibiotic tunicamycin, which acts as a structural analog and competitor of UDP-GlcNAc (PubMed:9451016, PubMed:29459785, PubMed:30388443). BIOPHYSICOCHEMICAL PROPERTIES: Kinetic parameters: KM=4.5 uM for UDP-N-acetylglucosamine ; KM=36 uM for dolichol phosphate ; Note=kcat is 0.21 min(-1) with UDP-N-acetylglucosamine. kcat is 0.20 min(-1) with dolichol phosphate. ; PATHWAY: Protein modification; protein glycosylation. SUBUNIT: Homodimer. INTERACTION: Q9H3H5; P42858: HTT; NbExp=3; IntAct=EBI-3922860, EBI-466029; SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein DISEASE: Congenital disorder of glycosylation 1J (CDG1J) [MIM:608093]: A form of congenital disorder of glycosylation, 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. te=The disease is caused by variants affecting the gene represented in this entry. DISEASE: Myasthenic syndrome, congenital, 13 (CMS13) [MIM:614750]: A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness. CMS13 is 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. Note=The disease is caused by variants affecting the gene represented in this entry. SIMILARITY: Belongs to the glycosyltransferase 4 family. WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=UDP-N- acetylglucosamine--dolichyl-phosphate N- acetylglucosaminephosphotransferase; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_543";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9H3H5
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Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0003975 UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity GO:0008963 phospho-N-acetylmuramoyl-pentapeptide-transferase activity GO:0016740 transferase activity GO:0016757 transferase activity, transferring glycosyl groups GO:0046872 metal ion binding
Biological Process: GO:0006047 UDP-N-acetylglucosamine metabolic process GO:0006486 protein glycosylation GO:0006487 protein N-linked glycosylation GO:0006488 dolichol-linked oligosaccharide biosynthetic process GO:0006489 dolichyl diphosphate biosynthetic process GO:0019348 dolichol metabolic process GO:0051259 protein oligomerization
Cellular Component: GO:0005783 endoplasmic reticulum 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
Descriptions from all associated GenBank mRNAs
AK128572 - Homo sapiens cDNA FLJ46731 fis, clone TRACH3019621, highly similar to UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC 2.7.8.15). BC000325 - Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase), mRNA (cDNA clone MGC:8482 IMAGE:2821845), complete cds. Z82022 - H.sapiens mRNA for GlcNac-1-P transferase. BC047771 - Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase), mRNA (cDNA clone MGC:54249 IMAGE:5750385), complete cds. AK095122 - Homo sapiens cDNA FLJ37803 fis, clone BRSSN2000715, moderately similar to UDP-N-ACETYLGLUCOSAMINE--DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE (EC 2.7.8.15). AK095718 - Homo sapiens cDNA FLJ38399 fis, clone FEBRA2008087, highly similar to UDP-N-ACETYLGLUCOSAMINE--DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINEPHOSPHOTRANSFERASE (EC 2.7.8.15). AK301973 - Homo sapiens cDNA FLJ61449 complete cds, highly similar to UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosamine phosphotransferase (EC 2.7.8.15). JD519484 - Sequence 500508 from Patent EP1572962. JD538631 - Sequence 519655 from Patent EP1572962. JD290679 - Sequence 271703 from Patent EP1572962. JD321413 - Sequence 302437 from Patent EP1572962. AK225994 - Homo sapiens mRNA for UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform a variant, clone: FCC110F07. JD289893 - Sequence 270917 from Patent EP1572962. JD536856 - Sequence 517880 from Patent EP1572962. JD457813 - Sequence 438837 from Patent EP1572962. JD252283 - Sequence 233307 from Patent EP1572962. JD418912 - Sequence 399936 from Patent EP1572962. JD545888 - Sequence 526912 from Patent EP1572962. HQ447193 - Synthetic construct Homo sapiens clone IMAGE:100070487; CCSB003987_01 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P tra (DPAGT1) gene, encodes complete protein. KJ891063 - Synthetic construct Homo sapiens clone ccsbBroadEn_00457 DPAGT1 gene, encodes complete protein. KR709908 - Synthetic construct Homo sapiens clone CCSBHm_00007517 DPAGT1 (DPAGT1) mRNA, encodes complete protein. AK312783 - Homo sapiens cDNA, FLJ93200, highly similar to Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine)N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)(DPAGT1), mRNA. BT006802 - Homo sapiens dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) mRNA, complete cds. CU674158 - Synthetic construct Homo sapiens gateway clone IMAGE:100018235 5' read DPAGT1 mRNA.
Protein Q9H3H5 (Reactome details) participates in the following event(s):
R-HSA-446191 Addition of N-acetyl-D-glucosamine to Dolichyl phosphate R-HSA-446193 Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein R-HSA-446203 Asparagine N-linked glycosylation R-HSA-597592 Post-translational protein modification R-HSA-392499 Metabolism of proteins
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
