| Predicate | Object |
|---|---|
| rdf:type | |
| biopax3:comment |
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. ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9H3H5-1; Sequence=Displayed; Name=2; IsoId=Q9H3H5-2; Sequence=VSP_001803; Note=No experimental confirmation available; Name=3; IsoId=Q9H3H5-3; Sequence=VSP_008886; Note=No experimental confirmation available; 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. 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"; GENE SYNONYMS:DPAGT1 DPAGT2. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.,
SEQUENCE 408 AA; 46090 MW; 0AE10EFE55E7B9E0 CRC64;
|
| biopax3:xref |
urn:biopax:RelationshipXref:HGNC_HGNC:2995,
urn:biopax:RelationshipXref:NCBI GENE_1798,
urn:biopax:RelationshipXref:REFSEQ_NP_001373,
urn:biopax:UnificationXref:UNIPROT_O15216,
urn:biopax:UnificationXref:UNIPROT_Q86WV9,
urn:biopax:UnificationXref:UNIPROT_Q9BWE6,
urn:biopax:UnificationXref:UNIPROT_Q9H3H5
|
| biopax3:displayName |
GPT_HUMAN
|
| biopax3:name |
2.7.8.15,
DPAGT1,
G1PT,
GPT,
GlcNAc-1-P transferase,
N-acetylglucosamine-1-phosphate transferase
|
| biopax3:organism | |
| biopax3:sequence |
MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQDLNKTSRQQIPESQGVISGAVFLIILFCFIPFPFLNCFVKEQCKAFPHHEFVALIGALLAICCMIFLGFADDVLNLRWRHKLLLPTAASLPLLMVYFTNFGNTTIVVPKPFRPILGLHLDLGILYYVYMGLLAVFCTNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCRDDHVFSLYFMIPFFFTTLGLLYHNWYPSRVFVGDTFCYFAGMTFAVVGILGHFSKTMLLFFMPQVFNFLYSLPQLLHIIPCPRHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFILKVAESLQLVTVHQSETEDGEFTECNNMTLINLLLKVLGPIHERNLTLLLLLLQILGSAITFSIRYQLVRLFYDV
|
| biopax3:standardName |
UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
|