Gene Gene information from NCBI Gene database.
Entrez ID 3703
Gene name STT3 oligosaccharyltransferase complex catalytic subunit A
Gene symbol STT3A
Synonyms (NCBI Gene)
CDG1WADCDG1WARITM1STT3-ATMC
Chromosome 11
Chromosome location 11q24.2
Summary The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a sim
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587777216 T>C Pathogenic Coding sequence variant, missense variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
161
miRTarBase ID miRNA Experiments Reference
MIRT022920 hsa-miR-124-3p Microarray 18668037
MIRT047614 hsa-miR-10a-5p CLASH 23622248
MIRT047423 hsa-miR-10b-5p CLASH 23622248
MIRT043817 hsa-miR-328-3p CLASH 23622248
MIRT042092 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0004576 Function Oligosaccharyl transferase activity IEA
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity IBA
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity IEA
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity IMP 19167329, 22467853
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601134 6172 ENSG00000134910
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P46977
Protein name Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (Oligosaccharyl transferase subunit STT3A) (STT3-A) (EC 2.4.99.18) (B5) (Integral membrane protein 1) (Transmembrane protein TMC)
Protein function Catalytic 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-
PDB 6S7O , 8B6L , 8PN9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02516 STT3 17 484 Oligosaccharyl transferase STT3 subunit Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in placenta, liver, muscle and pancreas, and at very low levels in brain, lung and kidney. Expressed in skin fibroblasts (at protein level). {ECO:0000269|PubMed:12887896}.
Sequence
Sequence length 705
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
41
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital disorder of glycosylation, type Iw, autosomal dominant Likely pathogenic; Pathogenic rs2135921186, rs2135938300, rs780062429, rs759953502 RCV001815048
RCV001815049
RCV001815050
RCV002512488
RCV003225865
STT3A-congenital disorder of glycosylation Likely pathogenic; Pathogenic rs587777216, rs780062429 RCV000088679
RCV004785323
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign rs79360777 RCV005907115
Gastric cancer Uncertain significance rs376733157 RCV005927137
Lung cancer Likely benign rs79360777 RCV005907118
Malignant lymphoma, large B-cell, diffuse Benign rs6590152 RCV005918561
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Follicular Associate 15085203
Adenoma Associate 15085203
Alzheimer Disease Associate 35766008
Breast Neoplasms Associate 35444644
Carcinogenesis Associate 34899684
Carcinoma Renal Cell Associate 37468683
Congenital Disorders of Glycosylation Associate 23842455
Developmental Disabilities Associate 30701557
Glycogen Storage Disease XIV Associate 30701557
Nasal Polyps Associate 32047813