RBCC Red Blood Cell Collection

OST48_HUMAN

Source: BSc_CH
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: DDOST , KIAA0115, OST48 , OK/SW-cl.45
Protein names and data: OST48_HUMAN , Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit; DDOST 48 kDa subunit; Oligosaccharyl transferase 48 kDa subunit; 2.4.99.18; Flags: Precursor Lenght: 456 a.a.
Mass: 50801 Da
fasta formatted sequence
Function: Essential subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains.
Catalytic activity: Dolichyl diphosphooligosaccharide + [protein]- L-asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by N-beta-D-glycosyl linkage to a protein L-asparagine.
Pathway: Protein modification; protein glycosylation.
Disease: ( OMIM: 602202 614507 ) 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.
Cellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Genetic variants

8 - 8 R -> G (in dbSNP:rs537816). VAR_047911 537816
217 - 217 G -> D (in CDG1R). VAR_067544

Database cross-references

UniProt: P39656
Ensembl: ENST00000375048
Ensembl: ENST00000602624
MIM: 602202
MIM: 614507
neXtProt: NX_P39656
Antibodypedia: P39656 (may not find the protein thus also not any antibody)
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