Description: UDP-N-acetylglucosamine-dolichyl-phosphate 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]. Transcript (Including UTRs) Position: hg18 chr11:118,472,423-118,477,995 Size: 5,573 Total Exon Count: 9 Strand: - Coding Region Position: hg18 chr11:118,472,918-118,477,575 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 in the synthesis of dolichol- P-P-oligosaccharides. CATALYTIC ACTIVITY: UDP-N-acetyl-D-glucosamine + dolichyl phosphate = UMP + N-acetyl-D-glucosaminyl-diphosphodolichol. PATHWAY: Protein modification; protein glycosylation. SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein. DISEASE: Defects in DPAGT1 are the cause of congenital disorder of glycosylation type 1J (CDG1J) [MIM:608093]. CDGs are a family of severe inherited diseases caused by a defect in protein N- glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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. DISEASE: Defects in DPAGT1 are the cause of 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. SIMILARITY: Belongs to the glycosyltransferase 4 family. WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/"; 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.
Pfam Domains: PF00953 - Glycosyl transferase family 4
ModBase Predicted Comparative 3D Structure on Q9H3H5
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
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). AK225994 - Homo sapiens mRNA for UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase isoform a variant, clone: FCC110F07. 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. 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. JD536856 - Sequence 517880 from Patent EP1572962. JD457813 - Sequence 438837 from Patent EP1572962. JD519484 - Sequence 500508 from Patent EP1572962. JD538631 - Sequence 519655 from Patent EP1572962. JD418912 - Sequence 399936 from Patent EP1572962. JD545888 - Sequence 526912 from Patent EP1572962. 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. JD290679 - Sequence 271703 from Patent EP1572962. JD321413 - Sequence 302437 from Patent EP1572962. JD289893 - Sequence 270917 from Patent EP1572962. JD193105 - Sequence 174129 from Patent EP1572962. JD174527 - Sequence 155551 from Patent EP1572962. JD252283 - Sequence 233307 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00510 - N-Glycan biosynthesis hsa01100 - Metabolic pathways
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
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Sequence and Links to Tools and Databases 
