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STT3A STT3 oligosaccharyltransferase complex catalytic subunit A [ Homo sapiens (human) ]

Gene ID: 3703, updated on 7-Apr-2024

Summary

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Official Symbol
STT3Aprovided by HGNC
Official Full Name
STT3 oligosaccharyltransferase complex catalytic subunit Aprovided by HGNC
Primary source
HGNC:HGNC:6172
See related
Ensembl:ENSG00000134910 MIM:601134; AllianceGenome:HGNC:6172
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TMC; ITM1; STT3-A; CDG1WAD; CDG1WAR
Summary
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]
Expression
Ubiquitous expression in thyroid (RPKM 41.7), endometrium (RPKM 25.2) and 25 other tissues See more
Orthologs
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Genomic context

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See STT3A in Genome Data Viewer
Location:
11q24.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (125591769..125623091)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (125621493..125651713)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (125462747..125492986)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fasciculation and elongation protein zeta 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365219-125365722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:125365723-125366224 Neighboring gene putative uncharacterized protein MGC39545 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5907 Neighboring gene Sharpr-MPRA regulatory region 4861 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5909 Neighboring gene CRISPRi-validated cis-regulatory element chr11.5910 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125439037-125439538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5698 Neighboring gene STT3A antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1156, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5699 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:125462019-125462613 Neighboring gene EI24 autophagy associated transmembrane protein Neighboring gene uncharacterized LOC118567325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5700 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:125496550-125497093 Neighboring gene checkpoint kinase 1 Neighboring gene RNA, U2 small nuclear 35, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings. Wilson MP, et al. Am J Hum Genet, 2021 Nov 4. PMID 34653363, Free PMC Article
  2. Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A. Ghosh A, et al. J Child Neurol, 2017 May. PMID 28424003
  3. Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor. Shrimal S, et al. Glycobiology, 2015 Jul. PMID 25792706, Free PMC Article
  4. Evidence for schizophrenia susceptibility alleles in the Indian population: An association of neurodevelopmental genes in case-control and familial samples. Jajodia A, et al. Schizophr Res, 2015 Mar. PMID 25579050
  5. Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum. Shrimal S, et al. Semin Cell Dev Biol, 2015 May. PMID 25460543, Free PMC Article

See all (126) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. STT3A-mediated viral N-glycosylation underlies the tumor selectivity of oncolytic virus M1.
    Title: STT3A-mediated viral N-glycosylation underlies the tumor selectivity of oncolytic virus M1.
  2. Proteome and Glycoproteome Analyses Reveal the Protein N-Linked Glycosylation Specificity of STT3A and STT3B.
    Title: Proteome and Glycoproteome Analyses Reveal the Protein N-Linked Glycosylation Specificity of STT3A and STT3B.
  3. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
    Title: Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
  4. Analysis of site occupancy data disclosed several new classes of STT3A-dependent acceptor sites including those with suboptimal flanking sequences and sites located within cysteine-rich protein domains.
    Title: Quantitative glycoproteomics reveals new classes of STT3A- and STT3B-dependent N-glycosylation sites.
  5. Study reports that STT3B-oligosaccharyltransferase, but not STT3A-oligosaccharyltransferase, is a lipid-linked oligosaccharide hydrolase.
    Title: Mammalian STT3A/B oligosaccharyltransferases segregate N-glycosylation at the translocon from lipid-linked oligosaccharide hydrolysis.
  6. DC2 and KCP2 mediate the interaction between the oligosaccharyltransferase STT3A and the endoplasmic reticulum translocon.
    Title: DC2 and KCP2 mediate the interaction between the oligosaccharyltransferase and the ER translocon.
  7. This study showed that Congenital Disorder of Glycosylation Caused by Mutations in STT3A.
    Title: Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.
  8. Consensus sites containing large hydrophobic and negatively charged middle residues are frequently skipped by STT3A during protein translation.
    Title: The middle X residue influences cotranslational N-glycosylation consensus site skipping.
  9. Results show homozygous mutation in STT3A and in STT3B causes congenital disorders of glycosylation.
    Title: Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.
  10. DDIT3, STT3A, ARG2 and FAM129A immunohistochemistry does not appear to be useful in the diagnosis of thyroid follicular neoplasias, as they do not reliably distinguish follicular thyroid carcinoma from follicular thyroid adenoma.
    Title: The new molecular markers DDIT3, STT3A, ARG2 and FAM129A are not useful in diagnosing thyroid follicular tumors.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital disorder of glycosylation, type Iw, autosomal dominant
MedGen: C5562068 OMIM: 619714 GeneReviews: Not available
Compare labs
STT3A-congenital disorder of glycosylation
MedGen: C5561935 OMIM: 615596 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies five new schizophrenia loci.
EBI GWAS Catalog
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of STT3, subunit of the oligosaccharyltransferase complex, homolog A (STT3A) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC9042, FLJ27038

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dolichyl-diphosphooligosaccharide-protein glycotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables dolichyl-diphosphooligosaccharide-protein glycotransferase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables dolichyl-diphosphooligosaccharide-protein glycotransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in co-translational protein modification IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in post-translational protein modification IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein N-linked glycosylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein N-linked glycosylation via asparagine IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein N-linked glycosylation via asparagine IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein N-linked glycosylation via asparagine ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in membrane HDA PubMed 
part_of oligosaccharyltransferase III complex ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of oligosaccharyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of oligosaccharyltransferase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of oligosaccharyltransferase complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A
Names
B5
STT3, subunit of the oligosaccharyltransferase complex, homolog A
STT3A, catalytic subunit of the oligosaccharyltransferase complex
STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
dolichyl-diphosphooligosaccharide protein glycotransferase
integral membrane protein 1
integral transmembrane protein 1
oligosaccharyl transferase subunit STT3A
transmembrane conserved
transmembrane protein TMC
NP_001265432.1
NP_001265433.1
NP_689926.1
XP_011541109.1
XP_047282851.1
XP_047282852.1
XP_047282853.1
XP_047282854.1
XP_054224667.1
XP_054224668.1
XP_054224669.1
XP_054224670.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042806.1 RefSeqGene

    Range
    5058..35297
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278503.2 → NP_001265432.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform a

    See identical proteins and their annotated locations for NP_001265432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AP001132, AP001494, BC020965, BE503634, BM667548, BX649102, DA577274
    Consensus CDS
    CCDS8458.1
    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4
    Related
    ENSP00000436962.1, ENST00000529196.5
    Conserved Domains (1) summary
    pfam02516
    Location:17 → 484
    STT3; Oligosaccharyl transferase STT3 subunit

  2. NM_001278504.2 → NP_001265433.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform b

    See identical proteins and their annotated locations for NP_001265433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks the exon containing the translation start codon compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (b) with a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AK295892, AP001132, BC020965, BE503634, BM667548, DA577274
    Consensus CDS
    CCDS60998.1
    Related
    ENSP00000432820.1, ENST00000531491.5
    Conserved Domains (1) summary
    pfam02516
    Location:1 → 392
    STT3; Oligosaccharyl transferase STT3 subunit

  3. NM_152713.5 → NP_689926.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform a

    See identical proteins and their annotated locations for NP_689926.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
    Source sequence(s)
    AP001132, BC020965, BE503634, BM667548, DA577274
    Consensus CDS
    CCDS8458.1
    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4
    Related
    ENSP00000376472.3, ENST00000392708.9
    Conserved Domains (1) summary
    pfam02516
    Location:17 → 484
    STT3; Oligosaccharyl transferase STT3 subunit

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    125591769..125623091
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047426897.1 → XP_047282853.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4

  2. XM_047426895.1 → XP_047282851.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4

  3. XM_047426896.1 → XP_047282852.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4

  4. XM_011542807.4 → XP_011541109.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    See identical proteins and their annotated locations for XP_011541109.1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4
    Conserved Domains (1) summary
    pfam02516
    Location:17 → 484
    STT3; Oligosaccharyl transferase STT3 subunit

  5. XM_047426898.1 → XP_047282854.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X2

    Related
    ENST00000534472.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    125621493..125651713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054368692.1 → XP_054224667.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4

  2. XM_054368694.1 → XP_054224669.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4

  3. XM_054368693.1 → XP_054224668.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X1

    UniProtKB/Swiss-Prot
    B4DJ24, E9PNQ1, P46977, Q86XU9, Q8TE35, Q8WUB4

  4. XM_054368695.1 → XP_054224670.1  dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P46977.2 GenPept UniProtKB/Swiss-Prot:P46977

Gene LinkOut

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