DDOST
entrez
1650
canonical
uniprot
P39656
canonical
ensembl
ENSG00000244038
resolver
ensp
ENSP00000473655
resolver
genesymbol
DDOST
resolver
genesymbol_syn
KIAA0115
resolver
genesymbol_syn
OST48
resolver
hgnc
HGNC:2728
resolver
uniprot
B2RDQ4
resolver
uniprot
B4DJE3
resolver
uniprot
B4DLI2
resolver
uniprot
O43244
resolver
uniprot
Q5VWA5
resolver
uniprot
Q8NI93
resolver
uniprot
Q9BUI2
resolver
uniprot_entry
OST48_HUMAN
resolver
uniprot_sec
B2RDQ4
resolver
uniprot_sec
B4DJE3
resolver
uniprot_sec
B4DLI2
resolver
uniprot_sec
O43244
resolver
uniprot_sec
Q5VWA5
resolver
uniprot_sec
Q8NI93
resolver
uniprot_sec
Q9BUI2
resolver
amino_acid_sequence
MGYFRCARAGSFGRRRKMEPSTAARAWALFWLLLPLLGAVCASGPRTLVLLDNLNVRETHSLFFRSLKDRGFELTFKTADDPSLSLIKYGEFLYDNLIIFSPSVEDFGGNINVETISAFIDGGGSVLVAASSDIGDPLRELGSECGIEFDEEKTAVIDHHNYDISDLGQHTLIVADTENLLKAPTIVGKSSLNPILFRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAVGKNTLLIAGLQARNNARVIFSGSLDFFSDSFFNSAVQKAAPGSQRYSQTGNYELAVALSRWVFKEEGVLRVGPVSHHRVGETAPPNAYTVTDLVEYSIVIQQLSNGKWVPFDGDDIQLEFVRIDPFVRTFLKKKGGKYSVQFKLPDVYGVFQFKVDYNRLGYTHLYSSTQVSVRPLQHTQYERFIPSAYPYYASAFSMMLGLFIFSIVFLHMKEKEKSD
uniprot
proteins
disease_involvement
DISEASE: Congenital disorder of glycosylation 1R (CDG1R) [MIM:614507]: 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. {ECO:0000269|PubMed:22305527}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation (PubMed:31831667). N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity (By similarity). Required for the assembly of both SST3A- and SS3B-containing OST complexes (PubMed:22467853). {ECO:0000250|UniProtKB:Q05052, ECO:0000269|PubMed:22467853, ECO:0000269|PubMed:31831667}.
uniprot
proteins
mass_dalton
50801
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:31831667}.
uniprot
proteins
protein_family
DDOST 48 kDa subunit family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22305527
uniprot
proteins
pubmed
22467853
uniprot
proteins
pubmed
23606741
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25135935
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
29765154
uniprot
proteins
pubmed
31831667
uniprot
proteins
pubmed
36697828
uniprot
proteins
pubmed
38670073
uniprot
proteins
pubmed
7788527
uniprot
proteins
pubmed
9367678
uniprot
proteins
sequence_length
456
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q29381}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q29381}.
uniprot
proteins
transmembrane_region
TRANSMEM 428..447; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins