background:
This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
Function:
DDOST (Dolichyl-diphosphooligosaccharide-protein glycosyltransferase) is a component of the oligosaccharyltransferase complex. This complex catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum and co-purifies with ribosomes. DDOST is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia.
Subunit:
Component of the oligosaccharyltransferase (OST) complex. OST seems to exist in different forms which contain at least RPN1, RPN2, OST48, DAD1, OSTC, KRTCAP2 and either STT3A or STT3B. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes even after release from the ribosome.
Subcellular Location:
Endoplasmic reticulum membrane; Single-pass type I membrane protein. Database links.
DISEASE:
Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the DDOST 48 kDa subunit family.
Database links:
Entrez Gene: 1650 Human
Entrez Gene: 425542 Chicken
Entrez Gene: 510682 Cow
Entrez Gene: 404012 Dog
Entrez Gene: 1640 Mouse
Entrez Gene: 313648 Rat
Entrez Gene: 444283 Xenopus laevis
Entrez Gene: 100145597 Xenopus tropicalis
Entrez Gene: 401288 Zebrafish
Omim: 602202 Human
SwissProt: P4888 Chicken
SwissProt: A6QPY0 Cow
SwissProt: Q05052 Dog
SwissProt: P39656 Human
SwissProt: O54734 Mouse
SwissProt: Q641Y0 Rat
SwissProt: Q6GNR9 Xenopus laevis
SwissProt: B1H3C9 Xenopus tropicalis
SwissProt: Q6NYS8 Zebrafish
Unigene: 523145 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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