Entity Details

Primary name GPT_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H3H5
EntryNameGPT_HUMAN
FullNameUDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
TaxID9606
Evidenceevidence at protein level
Length408
SequenceStatuscomplete
DateCreated2001-08-29
DateModified2021-06-02

Ontological Relatives

GenesDPAGT1

GO terms

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GOName
GO:0003975 UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity
GO:0003976 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity
GO:0005789 endoplasmic reticulum membrane
GO:0006047 UDP-N-acetylglucosamine metabolic process
GO:0006487 protein N-linked glycosylation
GO:0006488 dolichol-linked oligosaccharide biosynthetic process
GO:0006489 dolichyl diphosphate biosynthetic process
GO:0008963 phospho-N-acetylmuramoyl-pentapeptide-transferase activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016757 glycosyltransferase activity
GO:0019348 dolichol metabolic process
GO:0030176 integral component of endoplasmic reticulum membrane
GO:0042802 identical protein binding
GO:0043231 intracellular membrane-bounded organelle
GO:0046872 metal ion binding

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane

Domains

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DomainNameCategoryType
IPR000715 Glycosyl transferase, family 4FamilyFamily
IPR033895 UDP-GlcNAc-dolichyl-phosphate GlcNAc phosphotransferaseFamilyFamily

Diseases

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Disease IDSourceNameDescription
608093 OMIMCongenital disorder of glycosylation 1J (CDG1J)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. The disease is caused by variants affecting the gene represented in this entry.
614750 OMIMMyasthenic syndrome, congenital, 13 (CMS13)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

4 interactions