STT3B (STT3 oligosaccharyltransferase complex catalytic subunit B)

Gene

• Entrez ID: 201595
• Gene name: STT3 oligosaccharyltransferase complex catalytic subunit B
• Gene symbol: STT3B
• Synonyms (NCBI Gene): CDG1X, SIMP, STT3-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 ID	Visualize variation	Clinical significance	Consequence
rs587777217	G>T	Pathogenic	Intron variant, genic downstream transcript variant, downstream transcript variant

miRNA

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)

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
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	19167329, 30021884, 32296183, 35271311
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	31831667
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IMP	22467853
GO:0006516	Process	Glycoprotein catabolic process	IMP	22607976
GO:0006986	Process	Response to unfolded protein	IMP	19167329, 22607976
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	IEA
GO:0008250	Component	Oligosaccharyltransferase complex	IPI	31831667
GO:0008250	Component	Oligosaccharyltransferase complex	ISS
GO:0008250	Component	Oligosaccharyltransferase complex	TAS	19167329, 22607976
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IDA	31296534
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	19167329, 22607976
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0032991	Component	Protein-containing complex	IDA	28246125
GO:0036503	Process	ERAD pathway	IMP	22607976
GO:0043687	Process	Post-translational protein modification	IBA
GO:0043687	Process	Post-translational protein modification	IDA	31296534
GO:0043687	Process	Post-translational protein modification	IMP	19167329, 22607976
GO:0046872	Function	Metal ion binding	IEA
GO:0160227	Component	Oligosaccharyltransferase complex B	IDA	31831667

Other IDs

• MIM: 608605
• HGNC: 30611
• e!Ensembl: ENSG00000163527

Protein

• UniProt ID: 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

Pathways

KEGG:

N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Metabolic pathways
Protein processing in endoplasmic reticulum

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
STT3B-congenital disorder of glycosylation	Pathogenic	rs587777217, rs1696976315	RCV000088685 RCV002248435	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC GRAFT VERSUS HOST DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1X	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STT3B-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bone Diseases	Bone disease	Pubtator	27974301	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	27974301	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	40056505	Associate	★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1X	Congenital Disorder Of Glycosylation	ORPHANET_DG	23842455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1X	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	23842455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1X	Congenital Disorder Of Glycosylation	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1X	Congenital Disorder Of Glycosylation	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	23842455, 29282902		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	23842455	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	33607655	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	23842455		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	32253875	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23842455		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23842455	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	40056505	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27974301	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
STT3B-CDG	Congenital Disorder Of Glycosylation	Orphanet			★☆☆☆☆ Found in Text Mining only