DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [Homo sapiens (human)] - Gene

Summary

Official Symbol: DDOSTprovided by HGNC
Official Full Name: dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunitprovided by HGNC
Primary source: HGNC:HGNC:2728
See related: Ensembl:ENSG00000244038 MIM:602202; AllianceGenome:HGNC:2728
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: OST; WBP1; AGER1; CDG1R; GATD6; OST48; OKSWcl45
Summary: This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-purifies with ribosomes. The product of this gene is also implicated in the processing of advanced glycation endproducts (AGEs), which form from non-enzymatic reactions between sugars and proteins or lipids and are associated with aging and hyperglycemia. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in thyroid (RPKM 112.6), placenta (RPKM 100.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (20651777..20661369, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (20477979..20487556, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (20978270..20987862, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AGER-1 Long Non-Coding RNA Levels Correlate with the Expression of the Advanced Glycosylation End-Product Receptor, a Regulator of the Inflammatory Response in Visceral Adipose Tissue of Women with Obesity and Type 2 Diabetes Mellitus.
Title: AGER-1 Long Non-Coding RNA Levels Correlate with the Expression of the Advanced Glycosylation End-Product Receptor, a Regulator of the Inflammatory Response in Visceral Adipose Tissue of Women with Obesity and Type 2 Diabetes Mellitus.
Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Title: Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation.
Advanced Glycation End Products: A Sweet Flavor That Embitters Cardiovascular Disease.
Title: Advanced Glycation End Products: A Sweet Flavor That Embitters Cardiovascular Disease.
his review summarizes our current knowledge regarding the functions of OST in the light of health and tumor progression, and discusses perspectives on the clinical relevance of inhibiting OST as a tumor treatment.
Title: Oligosaccharyltransferase: A Gatekeeper of Health and Tumor Progression.
Study using transgenic human OST48 knock-in mice demonstrated that OST48 (encoded by DDOST gene) is a facilitator of increased advanced glycation end-products (AGE) deposition in the liver and OST48-AGE pathway leads to the onset of liver injury in combination with central adiposity and glucose intolerance, despite ample physical activity.
Title: Increased liver AGEs induce hepatic injury mediated through an OST48 pathway.
DDOST and SIRT1 are differently expressed in peripheral blood mononuclear cells from type 1 diabetes patients with and without microvascular complications. Their expression is also influenced by dietary advanced glycation end-products and by statins and angiotensin receptor blockers.
Title: Dietary advanced glycated end-products and medicines influence the expression of SIRT1 and DDOST in peripheral mononuclear cells from long-term type 1 diabetes patients.
the cell-cycle-dependent post-translation modification of TREX1 regulates its interaction with OST.
Title: Mitotic Phosphorylation of TREX1 C Terminus Disrupts TREX1 Regulation of the Oligosaccharyltransferase Complex.
Found a 22 bp deletion and a missense mutation in DDOST.
Title: DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.
The common SNPs tested in DDOST, PRKCSH and LGALS3 do not seem to be associated with diabetic micro- or macrovascular complications or with type 1 diabetes in Finnish patients.
Title: DDOST, PRKCSH and LGALS3, which encode AGE-receptors 1, 2 and 3, respectively, are not associated with diabetic nephropathy in type 1 diabetes.
AGER1 provides protection against AGE-induced reactive oxygen species generation via NADPH oxidase and protein kinase C delta.
Title: AGER1 regulates endothelial cell NADPH oxidase-dependent oxidant stress via PKC-delta: implications for vascular disease.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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 MedGen: C0282577 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs
Congenital disorder of glycosylation type Ir MedGen: C3281084 OMIM: 614507 GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST; OST48) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify dolichyl-diphosphooligosaccharide--protein glycosyltransferase, HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify dolichyl-diphosphooligosaccharide--protein glycosyltransferase, HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify dolichyl-diphosphooligosaccharide--protein glycosyltransferase, HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify dolichyl-diphosphooligosaccharide--protein glycosyltransferase, HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

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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

D1S3535 (e-PCR)
- UniSTS:46851

RH68262 (e-PCR)
- UniSTS:66062

RH25339 (e-PCR)
- UniSTS:89667

D1S1423 (e-PCR)
- UniSTS:149619

MARC_7133-7134:992008247:1 (e-PCR)
- UniSTS:231302

MARC_7133-7134:996687526:1 (e-PCR)
- UniSTS:231302

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables enzyme activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein N-linked glycosylation	IDA Inferred from Direct Assay 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 glycosylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of protein stability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cytokine	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in azurophil granule membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
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 intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
part_of oligosaccharyltransferase complex	IBA Inferred from Biological aspect of Ancestor 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	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit

Names: advanced glycation end-product receptor 1; advanced glycation endproduct receptor 1; dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic); dolichyl-diphosphooligosaccharide-protein glycotransferase; oligosaccharyl transferase 48 kDa subunit; oligosaccharyltransferase 48 kDa subunit; oligosaccharyltransferase subunit 48

NP_005207.3

EC 2.4.99.18

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

NG_032064.2 RefSeqGene

Range

5000..14592

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005216.5 → NP_005207.3 dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit precursor

Status: REVIEWED

Source sequence(s)

AB062391, AL391357, BC002594

Consensus CDS

CCDS212.2

UniProtKB/Swiss-Prot

B2RDQ4, B4DJE3, B4DLI2, O43244, P39656, Q5VWA5, Q8NI93, Q9BUI2

UniProtKB/TrEMBL

A0A0C4DGS1

Related

ENSP00000473655.2, ENST00000602624.7

Conserved Domains (1) summary

pfam03345
Location:30 → 438

DDOST_48kD; Oligosaccharyltransferase 48 kDa subunit beta