Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1650
Gene name Gene Name - the full gene name approved by the HGNC.
Dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DDOST
Synonyms (NCBI Gene) Gene synonyms aliases
AGER1, CDG1R, GATD6, OKSWcl45, OST, OST48, WBP1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG1R
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary of gene provided in NCBI Entrez Gene.
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-pur
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906831 C>T Pathogenic Coding sequence variant, missense variant
rs867045420 C>A,G Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004128 hsa-miR-192-5p Microarray 16822819
MIRT047928 hsa-miR-30c-5p CLASH 23622248
MIRT046554 hsa-let-7i-5p CLASH 23622248
MIRT042867 hsa-miR-324-3p CLASH 23622248
MIRT440839 hsa-miR-382-5p HITS-CLIP 24374217
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 21903422, 29765154
GO:0005783 Component Endoplasmic reticulum IDA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005886 Component Plasma membrane TAS
GO:0006486 Process Protein glycosylation ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602202 2728 ENSG00000244038
Protein
UniProt ID P39656
Protein name Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (DDOST 48 kDa subunit) (Oligosaccharyl transferase 48 kDa subunit)
Protein 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
PDB 6S7O , 6S7T , 8B6L , 8PN9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03345 DDOST_48kD 47 456 Oligosaccharyltransferase 48 kDa subunit beta Family
Sequence
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum
  Asparagine N-linked glycosylation
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation Congenital disorder of glycosylation type 1r, DDOST-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
22305527
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Lipodystrophy Lipodystrophy rs553668, rs766817317
Hypothyroidism Primary Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 35766008
Carcinoma Pancreatic Ductal Associate 39223141
Colorectal Neoplasms Inhibit 32031046
Congenital Disorders of Glycosylation Associate 22305527, 23842455, 37848450, 39223141
Diabetes Mellitus Associate 18032526, 21709297
Diabetes Mellitus Type 1 Associate 29027826
Diabetes Mellitus Type 2 Associate 38139276
Diabetic Nephropathies Associate 29027826
Genetic Diseases Inborn Associate 22305527
Glioma Associate 35812432, 37606290