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Aliases for STT3A Gene

Aliases for STT3A Gene

  • STT3A, Catalytic Subunit Of The Oligosaccharyltransferase Complex 2 3 5
  • Integral Membrane Protein 1 2 3 4
  • Dolichyl-Diphosphooligosaccharide Protein Glycotransferase 2 3
  • Oligosaccharyl Transferase Subunit STT3A 3 4
  • Transmembrane Protein TMC 3 4
  • STT3-A 3 4
  • ITM1 3 4
  • TMC 3 4
  • B5 3 4
  • STT3, Subunit Of The Oligosaccharyltransferase Complex, Homolog A (S. Cerevisiae) 2
  • Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Subunit STT3A 3
  • 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 61
  • EC 2.4.99.18 4

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 (STT3A, Catalytic Subunit Of The Oligosaccharyltransferase Complex) is a Protein Coding gene. Diseases associated with STT3A include Congenital Disorder Of Glycosylation, Type Iw and Stt3a-Cdg. Among its related pathways are Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF) and Protein processing in endoplasmic reticulum. 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 for STT3A Gene

  • Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. 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). SST3A seems to be involved in complex substrate specificity. 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.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STT3A Gene

Genomics for STT3A Gene

Regulatory Elements for STT3A Gene

Enhancers for STT3A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G126350 1.6 Ensembl ENCODE dbSUPER 10 +764.4 764369 11.5 HDGF PKNOX1 ARNT SIN3A YBX1 DMAP1 ZNF766 FOS MXD4 REST FOXRED1 HP11014 DCPS ST3GAL4 STT3A FAM118B ENSG00000278215
GH11G125568 1.1 ENCODE 10.1 -21.7 -21677 2.5 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 FEZ1 TIRAP HP11014 STT3A TMEM218 DDX25 PUS3 EI24 RNU6-1156P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STT3A on UCSC Golden Path with GeneCards custom track

Promoters for STT3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000046531 5 2401 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 YY1 SLC30A9

Genomic Location for STT3A Gene

Chromosome:
11
Start:
125,591,712 bp from pter
End:
125,625,215 bp from pter
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
    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.

    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

  • Ubiquitination at isoforms=3, isoforms=13, Lys67, posLast=613613, Lys641, and isoforms=2655
  • Glycosylation at posLast=537537, Asn544, and isoforms=2548
  • Modification sites at PhosphoSitePlus

Domains & Families for STT3A Gene

Protein Domains for STT3A Gene

Suggested Antigen Peptide Sequences for STT3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P46977

UniProtKB/Swiss-Prot:

STT3A_HUMAN :
  • Belongs to the STT3 family.
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 CatalyticActivity:
Dolichyl diphosphooligosaccharide + [protein]-L-asparagine = dolichyl diphosphate + a glycoprotein with the oligosaccharide chain attached by N-beta-D-glycosyl linkage to a protein L-asparagine.
UniProtKB/Swiss-Prot Function:
Catalytic subunit of the N-oligosaccharyl transferase (OST) complex which catalyzes the transfer of a high mannose oligosaccharide from a lipid-linked oligosaccharide donor to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains. 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). SST3A seems to be involved in complex substrate specificity. 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.

Enzyme Numbers (IUBMB) for STT3A Gene

Gene Ontology (GO) - Molecular Function for STT3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004579 contributes_to dolichyl-diphosphooligosaccharide-protein glycotransferase activity ISS --
GO:0005515 protein binding IPI 21903422
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0046872 metal ion binding 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

Clone Products

  • Addgene plasmids 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
endoplasmic reticulum 5
plasma membrane 3

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 TAS 19167329
GO:0016020 membrane IEA,IDA 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

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:0018279 protein N-linked glycosylation via asparagine TAS --
GO:0043686 co-translational protein modification IMP 19167329
GO:0043687 post-translational protein modification IBA --
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
L-Asparagine Approved Nutra 0

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

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

Transcripts for STT3A Gene

Unigene Clusters for STT3A Gene

STT3A, subunit of the oligosaccharyltransferase complex (catalytic):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
STT3A

Expression for STT3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for STT3A Gene



Protein tissue co-expression partners for STT3A Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of STT3A Gene:

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(4.7)
  • Intestine(4.4)
  • Liver(4.4)
  • Lung(4.4)
  • Thyroid gland(2.8)

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

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

Primer Products

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 34 35
  • 99.72 (n)
oppossum
(Monodelphis domestica)
Mammalia STT3A 35
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STT3A 34 35
  • 94.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia STT3A 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia STT3A 34 35
  • 92.81 (n)
mouse
(Mus musculus)
Mammalia Stt3a 34 16 35
  • 92.72 (n)
rat
(Rattus norvegicus)
Mammalia Stt3a 34
  • 92.48 (n)
chicken
(Gallus gallus)
Aves STT3A 35
  • 99 (a)
OneToOne
LOC100857165 34
  • 82.36 (n)
lizard
(Anolis carolinensis)
Reptilia STT3A 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stt3a 34
  • 81.42 (n)
zebrafish
(Danio rerio)
Actinopterygii itm1 35 34
  • 81.47 (n)
OneToOne
Dr.7858 34
fruit fly
(Drosophila melanogaster)
Insecta CG1518 34 35
  • 69.55 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000434 34
  • 68.76 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes STT3 35
  • 51 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons STT3B 34
  • 60.65 (n)
rice
(Oryza sativa)
Liliopsida Os04g0675500 34
  • 61.63 (n)
Os.6190 34
corn
(Zea mays)
Liliopsida Zm.3652 34
wheat
(Triticum aestivum)
Liliopsida Ta.22774 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6149 35
  • 70 (a)
OneToOne
Species where no ortholog for STT3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for STT3A Gene

Paralogs for STT3A Gene

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

Pseudogenes.org Pseudogenes for STT3A Gene

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

Variants for STT3A Gene

Sequence variations from dbSNP and Humsavar for STT3A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs587777216 Pathogenic, Congenital disorder of glycosylation 1W (CDG1W) [MIM:615596] 125,618,475(+) CCGTG(C/T)GGACC nc-transcript-variant, reference, missense
rs1000057998 -- 125,593,640(+) CAGGC(A/G)TTCCA intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000174481 -- 125,608,667(+) CAGAC(A/G)TAGAA intron-variant
rs1000256379 -- 125,623,078(+) AAAAA(A/C)AAAAA downstream-variant-500B, upstream-variant-2KB
rs1000309263 -- 125,615,996(+) ATTGC(A/G)CCACT intron-variant

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)

Relevant External Links for STT3A Gene

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

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

Disorders for STT3A Gene

MalaCards: The human disease database

(4) MalaCards diseases for STT3A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
congenital disorder of glycosylation, type iw
  • cdgiw
stt3a-cdg
  • congenital disorder of glycosylation, type iw
deafness, autosomal dominant 36
  • autosomal dominant nonsyndromic deafness 36
deafness, autosomal recessive 7
  • autosomal recessive nonsyndromic deafness 7
- 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.

Relevant External Links for STT3A

Genetic Association Database (GAD)
STT3A
Human Genome Epidemiology (HuGE) Navigator
STT3A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STT3A
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 22 64
  2. Isolation, characterization, and mapping to human chromosome 11q24-25 of a cDNA encoding a highly conserved putative transmembrane protein, TMC. (PMID: 8634329) Lissy N.A. … Testa J.R. (Biochim. Biophys. Acta 1996) 2 3 4 64
  3. 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. (Cytogenet. Cell Genet. 1996) 2 3 22 64
  4. 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 22 64
  5. Oxidoreductase activity is necessary for N-glycosylation of cysteine-proximal acceptor sites in glycoproteins. (PMID: 25135935) Cherepanova N.A. … Gilmore R. (J. Cell Biol. 2014) 3 4 64

Products for STT3A Gene

  • Addgene plasmids for STT3A

Sources for STT3A Gene

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