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 similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms hav... See more...

Aliases for STT3A Gene

Aliases for STT3A Gene

  • STT3 Oligosaccharyltransferase Complex Catalytic Subunit A 2 3 5
  • Integral Membrane Protein 1 2 3 4
  • STT3-A 2 3 4
  • TMC 2 3 4
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit STT3A 3 4
  • STT3A, Catalytic Subunit Of The Oligosaccharyltransferase Complex 2 3
  • Dolichyl-Diphosphooligosaccharide Protein Glycotransferase 2 3
  • Oligosaccharyl Transferase Subunit STT3A 3 4
  • Transmembrane Protein TMC 3 4
  • ITM1 3 4
  • B5 3 4
  • STT3, Subunit Of The Oligosaccharyltransferase Complex, Homolog A (S. Cerevisiae) 2
  • STT3A, Subunit Of The Oligosaccharyltransferase Complex (Catalytic) 3
  • STT3, Subunit Of The Oligosaccharyltransferase Complex, Homolog A 3
  • STT3A, Cataylic Subunit Of The Oligosaccharyltransferase Complex 3
  • Integral Transmembrane Protein 1 3
  • Transmembrane Conserved 3
  • EC 2.4.1.119 51
  • EC 2.4.99.18 4
  • MGC9042 2
  • STT3A 5

External Ids for STT3A Gene

Previous HGNC Symbols for STT3A Gene

  • ITM1

Previous GeneCards Identifiers for STT3A Gene

  • GC11P124968
  • GC11P125462
  • GC11P121404

Summaries for STT3A Gene

Entrez Gene Summary for STT3A Gene

  • 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 similar catalytic subunit with an overlapping function also exists. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

GeneCards Summary for STT3A Gene

STT3A (STT3 Oligosaccharyltransferase Complex Catalytic Subunit A) is a Protein Coding gene. Diseases associated with STT3A include Congenital Disorder Of Glycosylation, Type Iw and Osteogenesis Imperfecta, Type X. Among its related pathways are Transport to the Golgi and subsequent modification and Metabolism of proteins. 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 STT3B.

UniProtKB/Swiss-Prot Summary for STT3A 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). STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient post-translational glycosylation and mediate glycosylation of sites that have been skipped by STT3A (PubMed:19167329).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STT3A Gene

Genomics for STT3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STT3A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STT3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STT3A

Top Transcription factor binding sites by QIAGEN in the STT3A gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HNF-1
  • HNF-1A
  • HTF
  • SRY

Genomic Locations for STT3A Gene

Genomic Locations for STT3A Gene
chr11:125,591,712-125,625,215
(GRCh38/hg38)
Size:
33,504 bases
Orientation:
Plus strand
chr11:125,461,607-125,495,110
(GRCh37/hg19)
Size:
33,504 bases
Orientation:
Plus strand

Genomic View for STT3A Gene

Genes around STT3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STT3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STT3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STT3A Gene

Proteins for STT3A Gene

  • Protein details for STT3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P46977-STT3A_HUMAN
    Recommended name:
    Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
    Protein Accession:
    P46977
    Secondary Accessions:
    • B4DJ24
    • E9PNQ1
    • Q86XU9
    • Q8TE35
    • Q8WUB4

    Protein attributes for STT3A Gene

    Size:
    705 amino acids
    Molecular mass:
    80530 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 (PubMed:23606741, PubMed:25135935). STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes (By similarity).

    Three dimensional structures from OCA and Proteopedia for STT3A Gene

    Alternative splice isoforms for STT3A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STT3A Gene

Selected DME Specific Peptides for STT3A Gene

P46977:
  • IPIIASVSEHQP
  • LVDNNTWNN
  • RNAEIGNKD
  • YPGLMIT
  • GGTIYPGLM
  • VPGYISRSVAGS
  • TWVTSEAYSSPSIVLSA
  • DDFREAY
  • PWTGRFYSL
  • YVLVIFGG
  • ESVIHEFDPYFNYR
  • EHWLVRIYKVK
  • GFDRVRN
  • LLNCLMYKM
  • DNEGIAIF
  • VMVRLML
  • SRSVAGSYDNE
  • RAWYPLGRI
  • FHSTWVT

Post-translational modifications for STT3A Gene

  • Glycosylation at Asn537, Asn544, and Asn548
  • Ubiquitination at Lys3, Lys13, Lys67, Lys613, Lys641, and Lys655
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • STT3A_HUMAN (1188)

Domains & Families for STT3A Gene

Gene Families for STT3A Gene

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

Protein Domains for STT3A Gene

InterPro:
Blocks:
  • Oligosaccharyl transferase, STT3 subunit
ProtoNet:

Suggested Antigen Peptide Sequences for STT3A Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein TMC (STT3A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P46977

UniProtKB/Swiss-Prot:

STT3A_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 STT3A: view

Function for STT3A Gene

Molecular function for STT3A 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). STT3A is present in the majority of OST complexes and mediates cotranslational N-glycosylation of most sites on target proteins, while STT3B-containing complexes are required for efficient post-translational glycosylation and mediate glycosylation of sites that have been skipped by STT3A (PubMed:19167329).
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 STT3A Gene

Phenotypes From GWAS Catalog for STT3A Gene

Gene Ontology (GO) - Molecular Function for STT3A 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 21903422
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with STT3A: view
genes like me logo Genes that share phenotypes with STT3A: view

Human Phenotype Ontology for STT3A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STT3A

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for STT3A Gene

Localization for STT3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for STT3A 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 STT3A gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
golgi apparatus 2
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for STT3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0008250 oligosaccharyltransferase complex IDA,TAS 19167329
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with STT3A: view

Pathways & Interactions for STT3A Gene

genes like me logo Genes that share pathways with STT3A: view

Pathways by source for STT3A Gene

1 GeneGo (Thomson Reuters) pathway for STT3A Gene
  • CFTR folding and maturation (norm and CF)

UniProtKB/Swiss-Prot P46977-STT3A_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for STT3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0006487 protein N-linked glycosylation IMP 22467853
GO:0018279 protein N-linked glycosylation via asparagine IBA,TAS --
GO:0043686 co-translational protein modification IMP 19167329
GO:0043687 post-translational protein modification IBA 21873635
genes like me logo Genes that share ontologies with STT3A: view

No data available for SIGNOR curated interactions for STT3A Gene

Drugs & Compounds for STT3A Gene

(1) Drugs for STT3A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Asparagine Approved, Investigational Nutra 36

(1) Additional Compounds for STT3A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dolichyl diphosphate
37247-98-6
genes like me logo Genes that share compounds with STT3A: view

Transcripts for STT3A Gene

mRNA/cDNA for STT3A Gene

3 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STT3A

Alternative Splicing Database (ASD) splice patterns (SP) for STT3A Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^
SP1: - - - - - - -
SP2: - - - -
SP3: -
SP4: - - - - - - - -
SP5: - - - - - - -
SP6: - - - - -
SP7: - - - - -
SP8:
SP9: - - - - - - - - -
SP10: - - - -
SP11: -
SP12: -
SP13: -
SP14:

ExUns: 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1: -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14: -

Relevant External Links for STT3A Gene

GeneLoc Exon Structure for
STT3A

Expression for STT3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STT3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for STT3A Gene

This gene is overexpressed in Nasal epithelium (26.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STT3A Gene



Protein tissue co-expression partners for STT3A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STT3A

SOURCE GeneReport for Unigene cluster for STT3A Gene:

Hs.504237

mRNA Expression by UniProt/SwissProt for STT3A Gene:

P46977-STT3A_HUMAN
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).

Evidence on tissue expression from TISSUES for STT3A Gene

  • Nervous system(4.8)
  • Liver(4.6)
  • Intestine(4.5)
  • Lung(4.5)
  • Eye(2.9)
  • Skin(2.9)
  • Kidney(2.8)
  • Thyroid gland(2.8)
  • Blood(2.6)
  • Muscle(2.5)
  • Heart(2.5)
  • Spleen(2.2)
  • Stomach(2.2)
  • Lymph node(2.1)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for STT3A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
  • skull
genes like me logo Genes that share expression patterns with STT3A: view

No data available for mRNA differential expression in normal tissues for STT3A Gene

Orthologs for STT3A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for STT3A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STT3A 30 31
  • 99.72 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STT3A 31
  • 96 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia STT3A 30 31
  • 94.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STT3A 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia STT3A 30 31
  • 92.81 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Stt3a 30 17 31
  • 92.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stt3a 30
  • 92.48 (n)
Chicken
(Gallus gallus)
Aves STT3A 31
  • 99 (a)
OneToOne
LOC100857165 30
  • 82.36 (n)
Lizard
(Anolis carolinensis)
Reptilia STT3A 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stt3a 30
  • 81.42 (n)
Zebrafish
(Danio rerio)
Actinopterygii itm1 30 31
  • 81.47 (n)
OneToOne
Dr.7858 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG1518 30 31
  • 69.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000434 30
  • 68.76 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STT3 31
  • 51 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons STT3B 30
  • 60.65 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0675500 30
  • 61.63 (n)
Os.6190 30
Wheat
(Triticum aestivum)
Liliopsida Ta.22774 30
Corn
(Zea mays)
Liliopsida Zm.3652 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6149 31
  • 70 (a)
OneToOne
Species where no ortholog for STT3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • 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 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Worm (Caenorhabditis elegans)

Evolution for STT3A Gene

ENSEMBL:
Gene Tree for STT3A (if available)
TreeFam:
Gene Tree for STT3A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STT3A: view image

Paralogs for STT3A Gene

Paralogs for STT3A Gene

(1) SIMAP similar genes for STT3A Gene using alignment to 6 proteins:

  • STT3A_HUMAN
  • E9PI32_HUMAN
  • E9PIJ8_HUMAN
  • E9PN73_HUMAN
  • E9PNQ1_HUMAN
  • H0YET6_HUMAN

Pseudogenes.org Pseudogenes for STT3A Gene

genes like me logo Genes that share paralogs with STT3A: view

Variants for STT3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STT3A Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
660400 Uncertain Significance: not provided 125,620,014(+) G/A MISSENSE_VARIANT
668214 Likely Benign: not provided 125,614,434(+) A/G INTRON_VARIANT
669172 Likely Benign: not provided 125,606,336(+) C/T SYNONYMOUS_VARIANT
702009 Likely Benign: not provided 125,611,456(+) G/A SYNONYMOUS_VARIANT
702848 Likely Benign: not provided 125,606,470(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for STT3A Gene

Structural Variations from Database of Genomic Variants (DGV) for STT3A Gene

Variant ID Type Subtype PubMed ID
esv32964 CNV gain+loss 17666407
esv3579952 CNV loss 25503493

Variation tolerance for STT3A Gene

Residual Variation Intolerance Score: 10.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 10.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STT3A Gene

Human Gene Mutation Database (HGMD)
STT3A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STT3A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STT3A Gene

Disorders for STT3A Gene

MalaCards: The human disease database

(22) MalaCards diseases for STT3A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search STT3A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STT3A_HUMAN
  • Congenital disorder of glycosylation 1W (CDG1W) [MIM:615596]: 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 mutations affecting the gene represented in this entry.

Additional Disease Information for STT3A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with STT3A: view

No data available for Genatlas for STT3A Gene

Publications for STT3A Gene

  1. Cotranslational and posttranslational N-glycosylation of polypeptides by distinct mammalian OST isoforms. (PMID: 19167329) Ruiz-Canada C … Gilmore R (Cell 2009) 3 4 23
  2. Molecular cloning of a highly conserved mouse and human integral membrane protein (Itm1) and genetic mapping to mouse chromosome 9. (PMID: 8838310) Hong G … Merregaert J (Genomics 1996) 3 4 23
  3. Isolation, characterization, and mapping to human chromosome 11q24-25 of a cDNA encoding a highly conserved putative transmembrane protein, TMC. (PMID: 8634329) Lissy NA … Testa JR (Biochimica et biophysica acta 1996) 2 3 4
  4. Assignment of the human integral transmembrane protein 1 gene (ITM1) to human chromosome band 11q23.3 by in situ hybridization and YAC mapping. (PMID: 8941377) Van Hul W … Merregaert J (Cytogenetics and cell genetics 1996) 2 3 23
  5. Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins. (PMID: 25135935) Cherepanova NA … Gilmore R (The Journal of cell biology 2014) 3 4

Products for STT3A Gene

  • Signalway Proteins for STT3A

Sources for STT3A Gene