InnateDB Protein
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IDBP-293573.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DPAGT1
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Protein Name
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dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
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Synonyms
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ALG7; CDG-Ij; CDG1J; CMSTA2; D11S366; DGPT; DPAGT; DPAGT2; G1PT; GPT; UAGT; UGAT;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000386597
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InnateDB Gene
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IDBG-74265 (DPAGT1)
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Protein Structure
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Function |
Catalyzes the initial step in the synthesis of dolichol- P-P-oligosaccharides.
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Subcellular Localization |
Endoplasmic reticulum membrane; Multi-pass membrane protein.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
7
[view]
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Protein-Protein |
4
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0003975
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UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity
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GO:0008963
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phospho-N-acetylmuramoyl-pentapeptide-transferase activity
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GO:0016757
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transferase activity, transferring glycosyl groups
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000715
Glycosyl transferase, family 4
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PFAM |
PF00953
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9H3H5
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PhosphoSite |
PhosphoSite-Q9H3H5
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TrEMBL |
A0A024R3H8
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UniProt Splice Variant |
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Entrez Gene |
1798
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UniGene |
Hs.524081
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RefSeq |
XP_005271479
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HUGO |
HGNC:2995
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OMIM |
191350
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CCDS |
CCDS8411
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HPRD |
01879
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IMGT |
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EMBL |
AF069061
AF070443
BC000325
BC047771
BT006802
CH471065
Z82022
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GenPept |
AAG43168
AAH00325
AAH47771
AAP35448
CAB04787
EAW67452
EAW67453
EAW67454
EAW67455
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