STT3B (STT3 oligosaccharyltransferase complex catalytic subunit B)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 201595
Gene name STT3 oligosaccharyltransferase complex catalytic subunit B
Gene symbol STT3B
Synonyms (NCBI Gene)
CDG1XSIMPSTT3-B
Chromosome 3
Chromosome location 3p23
Summary The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs587777217 G>T Pathogenic Intron variant, genic downstream transcript variant, downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT051229 hsa-miR-16-5p CLASH 23622248
MIRT050418 hsa-miR-23a-3p CLASH 23622248
MIRT046466 hsa-miR-15b-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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 IDA 31296534, 39509507
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity IEA
GO:0004579 Function Dolichyl-diphosphooligosaccharide-protein glycotransferase activity IMP 19167329, 22467853, 22607976
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608605 30611 ENSG00000163527
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TCJ2
Protein name Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B (Oligosaccharyl transferase subunit STT3B) (STT3-B) (EC 2.4.99.18) (Source of immunodominant MHC-associated peptides homolog)
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 6S7T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02516 STT3 71 → 563 Oligosaccharyl transferase STT3 subunit Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. Expressed in skin fibroblasts (at protein level). {ECO:0000269|PubMed:12887896}.
Sequence 
MAEPSAPESKHKSSLNSSPWSGLMALGNSRHGHHGPGAQCAHKAAGGAAPPKPAPAGLSG
GLSQPAGWQSLLSFTILFLAWLAGFSSRLFAVIRFESIIHEFDPWFNYRSTHHLASHGFY
EFLNWFDERAWYPLGRIVGGTVYPGLMITAGLIHWILNTLNITVHIRDVCVFLAPTFSGL
TSISTFLLTRELWNQGAGLLAACFIAIVPGYISRSVAGSFDNEGIAIFALQFTYYLWVKS
VKTGSVFWTMCCCLSYFYMVSAWGGYVFIINLIPLHVFVLLLMQRYSKRVYIAYSTFYIV
GLILSMQIPFVGFQPIRTSEHMAAAGVFALLQAYAFLQYLRDRLTKQEFQTLFFLGVSLA
AGAVFLSVIYLTYTGYIAPWSGRFYSLWDTGYAKIHIPIIASVSEHQPTTWVSFFFDLHI
LVCTFPAGLWFCIKNINDERVFVALYAISAVYFAGVMVRLMLTLTPVVCMLSAIAFSNVF
EHYLGDDMKRENPPVEDSSDEDDKRNQGNLYDKAGKVRKHATEQEKTEEGLGPNIKSIVT
MLMLMLLMMFAVHCTWVTSNAYSSPSVVLASYNHDGTRNILDDFREAYFWLRQNTDEHAR
VMSWWDYGYQIAGMANRTTLVDNNTWNNSHIALVGKAMSSNETAAYKIMRTLDVDYVLVI
FGGVIGYSGDDINKFLWMVRIAEGEHPKDIRESDYFTPQGEFRVDKAGSPTLLNCLMYKM
SYYRFGEMQLDFRTPPGFDRTRNAEIGNKDIKFKHLEEAFTSEHWLVRIYKVKAPDNRET
LDHKPRVTNIFPKQKYLSKKTTKRKRGYIKNKLVFKKGKKISKKTV
Sequence length 826
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
STT3B-congenital disorder of glycosylation Pathogenic rs587777217, rs1696976315 RCV000088685
RCV002248435
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs76374061, rs745905033 RCV005918161
RCV005898068
Cervical cancer Likely benign rs78793809 RCV005922419
STT3B-related disorder Likely benign; Benign rs775786202, rs140420950, rs76400963 RCV003961637
RCV003970212
RCV003922737
Uterine carcinosarcoma Likely benign rs78793809 RCV005922420
Show/Hide Text Mining Associations (15)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bone Diseases Associate 27974301
Cardiomyopathy Hypertrophic Associate 27974301
Colorectal Neoplasms Associate 40056505
Congenital Disorders of Glycosylation Associate 23842455
Diabetic Retinopathy Associate 33607655
Failure to Thrive Associate 23842455
Genetic Diseases Inborn Associate 29444815
Glycogen Storage Disease XIV Associate 32253875
Intellectual Disability Associate 23842455
Lymphatic Metastasis Associate 40056505