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] See more...

Aliases for STT3B Gene

Aliases for STT3B Gene

  • STT3 Oligosaccharyltransferase Complex Catalytic Subunit B 2 3 5
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit STT3B 2 3 4
  • STT3-B 2 3 4
  • SIMP 2 3 4
  • STT3B, Catalytic Subunit Of The Oligosaccharyltransferase Complex 2 3
  • Dolichyl-Diphosphooligosaccharide Protein Glycotransferase 2 3
  • Source Of Immunodominant MHC-Associated Peptides Homolog 3 4
  • Oligosaccharyl Transferase Subunit STT3B 3 4
  • STT3, Subunit Of The Oligosaccharyltransferase Complex, Homolog B (S. Cerevisiae) 2
  • STT3B, Subunit Of The Oligosaccharyltransferase Complex (Catalytic) 3
  • STT3, Subunit Of The Oligosaccharyltransferase Complex, Homolog B 3
  • Source Of Immunodominant MHC Associated Peptides 2
  • Homolog Of Yeast STT3 3
  • EC 2.4.1.119 50
  • EC 2.4.99.18 4
  • FLJ90106 2
  • CDG1X 3
  • STT3B 5

External Ids for STT3B Gene

Summaries for STT3B Gene

Entrez Gene Summary for STT3B Gene

  • 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]

GeneCards Summary for STT3B Gene

STT3B (STT3 Oligosaccharyltransferase Complex Catalytic Subunit B) is a Protein Coding gene. Diseases associated with STT3B include Congenital Disorder Of Glycosylation, Type Ix and Immunodeficiency 47. Among its related pathways are Protein processing in endoplasmic reticulum and N-Glycan biosynthesis. Gene Ontology (GO) annotations related to this gene include dolichyl-diphosphooligosaccharide-protein glycotransferase activity and oligosaccharyl transferase activity. An important paralog of this gene is STT3A.

UniProtKB/Swiss-Prot Summary for STT3B Gene

  • 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-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. 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. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3B is present in a small subset of OST complexes and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient post-translational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A. STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins. Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation. Mediates glycosylation of the disease variant AMYL-TTR 'Asp-38' of TTR at 'Asn-118', leading to its degradation (PubMed:19167329, PubMed:22607976).

Gene Wiki entry for STT3B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STT3B Gene

Genomics for STT3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STT3B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J031530 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 255.3 +1.1 1130 6.9 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 ZNF592 ATF2 KLF9 POLR2A STT3B HSALNG0024957 lnc-OSBPL10-3 ZNF860
GH03J031486 Enhancer 0.8 ENCODE 17.8 -45.5 -45516 0.6 MYC IKZF1 ZNF592 CEBPA ATF3 ARNT NBN TAL1 RARA HLTF STT3B LOC105377019 GADL1
GH03J031224 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 13 -305.6 -305568 5.1 SP1 BCL11A EBF1 SMARCA5 ZNF146 BHLHE40 SPI1 MYC MAX POLR2A RF00001-198 RNA5SP127 STT3B HSALNG0024944-002 lnc-GADL1-7 GADL1
GH03J031461 Enhancer 0.7 ENCODE 17.8 -70.1 -70148 1.9 NFIC CTCF TRIM22 FOXA2 TAL1 EBF1 SOX5 SPI1 ELF1 TBX3 HSALNG0024955 LOC105377019 STT3B GADL1
GH03J031273 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.2 -257.5 -257518 2.6 CEBPA YY1 CEBPB DEK HOMEZ EP300 FOXA2 KDM6A PRDM1 RXRA STT3B H3P11 piR-36588-273 lnc-GADL1-7 GADL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STT3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STT3B

Top Transcription factor binding sites by QIAGEN in the STT3B gene promoter:
  • AML1a
  • c-Ets-1
  • FAC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • LHX3b
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for STT3B Gene

Latest Assembly
chr3:31,532,638-31,637,621
(GRCh38/hg38)
Size:
104,984 bases
Orientation:
Plus strand

Previous Assembly
chr3:31,574,417-31,679,108
(GRCh37/hg19 by Entrez Gene)
Size:
104,692 bases
Orientation:
Plus strand

chr3:31,574,130-31,679,112
(GRCh37/hg19 by Ensembl)
Size:
104,983 bases
Orientation:
Plus strand

Genomic View for STT3B Gene

Genes around STT3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STT3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STT3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STT3B Gene

Proteins for STT3B Gene

  • Protein details for STT3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCJ2-STT3B_HUMAN
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3B
    Protein Accession:
    Q8TCJ2
    Secondary Accessions:
    • Q96JZ4
    • Q96KY7

    Protein attributes for STT3B Gene

    Size:
    826 amino acids
    Molecular mass:
    93674 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. OST can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity).
    SequenceCaution:
    • Sequence=AAH15880.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB55370.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC11581.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for STT3B Gene

neXtProt entry for STT3B Gene

Selected DME Specific Peptides for STT3B Gene

Q8TCJ2:
  • IPIIASVSEHQP
  • LVDNNTWNN
  • ESIIHEFDPWFN
  • RNAEIGNKD
  • YPGLMIT
  • VPGYISRSVAGS
  • AWGGYVFI
  • DDFREAY
  • YVLVIFGG
  • EHWLVRIYKVK
  • LLNCLMYKM
  • DNEGIAIF
  • VMVRLML
  • RAWYPLGRI

Post-translational modifications for STT3B Gene

  • Glycosylation at Asn616, Asn623, Asn627, and Asn641
  • Ubiquitination at Lys12, Lys504, Lys719, Lys749, Lys752, and Lys754
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • STT3B_HUMAN (1189)

Other Protein References for STT3B Gene

Domains & Families for STT3B Gene

Gene Families for STT3B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for STT3B Gene

InterPro:
Blocks:
  • Oligosaccharyl transferase, STT3 subunit

Suggested Antigen Peptide Sequences for STT3B Gene

GenScript: Design optimal peptide antigens:
  • Source of immunodominant MHC-associated peptides homolog (STT3B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCJ2

UniProtKB/Swiss-Prot:

STT3B_HUMAN :
  • Despite low primary sequence conservation between eukaryotic catalytic subunits and bacterial and archaeal single subunit OSTs (ssOST), structural comparison revealed several common motifs at spatially equivalent positions, like the DXD motif 1 on the external loop 1 and the DXD motif 2 on the external loop 2 involved in binding of the metal ion cofactor and the carboxamide group of the acceptor asparagine, the conserved Glu residue of the TIXE/SVSE motif on the external loop 5 involved in catalysis, as well as the WWDYG and the DK/MI motifs in the globular domain that define the binding pocket for the +2 Ser/Thr of the acceptor sequon. In bacterial ssOSTs, an Arg residue was found to interact with a negatively charged side chain at the -2 position of the sequon. This Arg is conserved in bacterial enzymes and correlates with an extended sequon requirement (Asp-X-Asn-X-Ser/Thr) for bacterial N-glycosylation.
  • Belongs to the STT3 family.
Domain:
  • Despite low primary sequence conservation between eukaryotic catalytic subunits and bacterial and archaeal single subunit OSTs (ssOST), structural comparison revealed several common motifs at spatially equivalent positions, like the DXD motif 1 on the external loop 1 and the DXD motif 2 on the external loop 2 involved in binding of the metal ion cofactor and the carboxamide group of the acceptor asparagine, the conserved Glu residue of the TIXE/SVSE motif on the external loop 5 involved in catalysis, as well as the WWDYG and the DK/MI motifs in the globular domain that define the binding pocket for the +2 Ser/Thr of the acceptor sequon. In bacterial ssOSTs, an Arg residue was found to interact with a negatively charged side chain at the -2 position of the sequon. This Arg is conserved in bacterial enzymes and correlates with an extended sequon requirement (Asp-X-Asn-X-Ser/Thr) for bacterial N-glycosylation.
Family:
  • Belongs to the STT3 family.
genes like me logo Genes that share domains with STT3B: view

Function for STT3B Gene

Molecular function for STT3B Gene

UniProtKB/Swiss-Prot 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-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. 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. This subunit contains the active site and the acceptor peptide and donor lipid-linked oligosaccharide (LLO) binding pockets (By similarity). STT3B is present in a small subset of OST complexes and mediates both cotranslational and post-translational N-glycosylation of target proteins: STT3B-containing complexes are required for efficient post-translational glycosylation and while they are less competent than STT3A-containing complexes for cotranslational glycosylation, they have the ability to mediate glycosylation of some nascent sites that are not accessible for STT3A. STT3B-containing complexes also act post-translationally and mediate modification of skipped glycosylation sites in unfolded proteins. Plays a role in ER-associated degradation (ERAD) pathway that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins by mediating N-glycosylation of unfolded proteins, which are then recognized by the ERAD pathway and targeted for degradation. Mediates glycosylation of the disease variant AMYL-TTR 'Asp-38' of TTR at 'Asn-118', leading to its degradation (PubMed:19167329, PubMed:22607976).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a dolichyl diphosphooligosaccharide + L-asparaginyl-[protein] = dolichyl diphosphate + H(+) + N(4)-(oligosaccharide-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl)-L-asparaginy-[protein]; Xref=Rhea:RHEA:22980, Rhea:RHEA-COMP:9529, Rhea:RHEA-COMP:12635, Rhea:RHEA-COMP:12804, Rhea:RHEA-COMP:12805, ChEBI:CHEBI:15378, ChEBI:CHEBI:50347, ChEBI:CHEBI:57497, ChEBI:CHEBI:57570, ChEBI:CHEBI:132529; EC=2.4.99.18; Evidence={ECO:0000250|UniProtKB:P39007};.

Enzyme Numbers (IUBMB) for STT3B Gene

Phenotypes From GWAS Catalog for STT3B Gene

Gene Ontology (GO) - Molecular Function for STT3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004576 oligosaccharyl transferase activity IEA --
GO:0004579 dolichyl-diphosphooligosaccharide-protein glycotransferase activity IBA,ISS --
GO:0005515 protein binding IPI 19167329
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with STT3B: view
genes like me logo Genes that share phenotypes with STT3B: view

Human Phenotype Ontology for STT3B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for STT3B

miRNA for STT3B Gene

miRTarBase miRNAs that target STT3B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STT3B

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for STT3B Gene

Localization for STT3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for STT3B Gene

Endoplasmic reticulum. Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STT3B gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STT3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0008250 oligosaccharyltransferase complex IDA,TAS 19167329
GO:0016020 membrane HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with STT3B: view

Pathways & Interactions for STT3B Gene

genes like me logo Genes that share pathways with STT3B: view

Pathways by source for STT3B Gene

1 GeneGo (Thomson Reuters) pathway for STT3B Gene
  • CFTR folding and maturation (norm and CF)

UniProtKB/Swiss-Prot Q8TCJ2-STT3B_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for STT3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IMP 22467853
GO:0006516 glycoprotein catabolic process IMP 22607976
GO:0006986 response to unfolded protein IMP 19167329
GO:0018279 protein N-linked glycosylation via asparagine IBA,ISS --
genes like me logo Genes that share ontologies with STT3B: view

No data available for SIGNOR curated interactions for STT3B Gene

Drugs & Compounds for STT3B Gene

(1) Drugs for STT3B Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra 40

(1) Additional Compounds for STT3B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichyl diphosphate
  • Dolichol diphosphate
  • Dolichol diphosphoric acid
  • Dolichyl diphosphoric acid
  • Dolichol pyrophosphate
  • Dolichyl pyrophosphate
37247-98-6
genes like me logo Genes that share compounds with STT3B: view

Transcripts for STT3B Gene

mRNA/cDNA for STT3B Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STT3B

Alternative Splicing Database (ASD) splice patterns (SP) for STT3B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b
SP1: - - -
SP2:
SP3:
SP4:

Relevant External Links for STT3B Gene

GeneLoc Exon Structure for
STT3B

Expression for STT3B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STT3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STT3B Gene

This gene is overexpressed in Nasal epithelium (33.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STT3B Gene



Protein tissue co-expression partners for STT3B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STT3B

SOURCE GeneReport for Unigene cluster for STT3B Gene:

Hs.475812

mRNA Expression by UniProt/SwissProt for STT3B Gene:

Q8TCJ2-STT3B_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. Expressed in skin fibroblasts (at protein level).

Evidence on tissue expression from TISSUES for STT3B Gene

  • Liver(4.5)
  • Nervous system(2.5)
  • Kidney(2.5)
  • Skin(2.2)
  • Heart(2.2)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STT3B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • skull
Thorax:
  • lung
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
General:
  • blood
  • coagulation system
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with STT3B: view

Primer products for research

No data available for mRNA differential expression in normal tissues for STT3B Gene

Orthologs for STT3B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STT3B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STT3B 29 30
  • 99.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia STT3B 29 30
  • 96.33 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STT3B 30
  • 96 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STT3B 30
  • 95 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia STT3B 29 30
  • 93.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stt3b 29 16 30
  • 90.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stt3b 29
  • 90.09 (n)
Chicken
(Gallus gallus)
Aves STT3B 29 30
  • 84.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STT3B 30
  • 92 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stt3b 29
  • 81.07 (n)
Str.16715 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.17193 29
Zebrafish
(Danio rerio)
Actinopterygii stt3b 30
  • 89 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta OstStt3 29 30
  • 65.06 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002396 29
  • 63.34 (n)
Worm
(Caenorhabditis elegans)
Secernentea stt-3 29 30
  • 62.02 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STT3 29 30 32
  • 59.13 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C11627g 29
  • 58.42 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR491W 29
  • 54.66 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7700 29
Barley
(Hordeum vulgare)
Liliopsida Hv.4761 29
Wheat
(Triticum aestivum)
Liliopsida Ta.9644 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5942 30
  • 73 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes stt3 29
  • 56.3 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU10497 29
  • 55.65 (n)
Species where no ortholog for STT3B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for STT3B Gene

ENSEMBL:
Gene Tree for STT3B (if available)
TreeFam:
Gene Tree for STT3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STT3B: view image
Alliance of Genome Resources:
Additional Orthologs for STT3B

Paralogs for STT3B Gene

Paralogs for STT3B Gene

(1) SIMAP similar genes for STT3B Gene using alignment to 1 proteins:

  • STT3B_HUMAN
genes like me logo Genes that share paralogs with STT3B: view

Variants for STT3B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STT3B Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1026533 Uncertain Significance: Congenital disorder of glycosylation type 1x 31,622,104(+) A/G
NM_178862.3(STT3B):c.1335A>G (p.Leu445=)
SYNONYMOUS
1042772 Uncertain Significance: Congenital disorder of glycosylation type 1x 31,533,009(+) C/T
NM_178862.3(STT3B):c.11C>T (p.Pro4Leu)
MISSENSE
849370 Uncertain Significance: Congenital disorder of glycosylation type 1x 31,622,111(+) A/G
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val)
MISSENSE
972008 Uncertain Significance: Congenital disorder of glycosylation type 1x 31,626,126(+) G/A
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln)
MISSENSE
rs1008042824 Uncertain Significance: Congenital disorder of glycosylation type 1x 31,596,844(+) G/C
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STT3B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for STT3B Gene

Variant ID Type Subtype PubMed ID
esv1008680 CNV deletion 20482838
nsv1003285 CNV gain 25217958
nsv590032 CNV loss 21841781
nsv954458 CNV duplication 24416366

Variation tolerance for STT3B Gene

Residual Variation Intolerance Score: 4.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STT3B Gene

Human Gene Mutation Database (HGMD)
STT3B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STT3B
Leiden Open Variation Database (LOVD)
STT3B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STT3B Gene

Disorders for STT3B Gene

MalaCards: The human disease database

(6) MalaCards diseases for STT3B Gene - From: OMI, CVR, GTR, ORP, and COP

UniProtKB/Swiss-Prot

STT3B_HUMAN
  • Congenital disorder of glycosylation 1X (CDG1X) [MIM:615597]: 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:23842455}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for STT3B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with STT3B: view

No data available for Genatlas for STT3B Gene

Publications for STT3B Gene

  1. The model B6(dom1) minor histocompatibility antigen is encoded by a mouse homolog of the yeast STT3 gene. (PMID: 12439619) McBride K … Perreault C (Immunogenetics 2002) 2 3 4 22
  2. Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. (PMID: 23842455) Shrimal S … Freeze HH (Human molecular genetics 2013) 3 4 72
  3. Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. (PMID: 19167329) Ruiz-Canada C … Gilmore R (Cell 2009) 3 4 22
  4. Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties. (PMID: 12887896) Kelleher DJ … Gilmore R (Molecular cell 2003) 2 3 4
  5. OST4 is a subunit of the mammalian oligosaccharyltransferase required for efficient N-glycosylation. (PMID: 23606741) Dumax-Vorzet A … High S (Journal of cell science 2013) 3 4

Products for STT3B Gene

Sources for STT3B Gene