DAD1: Defender Against Cell Death 1
A key regulator of N-glycosylation and apoptosis
Gene Information Card
| Symbol | DAD1 |
|---|---|
| Full Name | Defender against cell death 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 1603 ncbi.nlm.nih.gov/gene/1603 |
| Ensembl ID | ENSG00000129562 |
| UniProt ID | P61803 |
| OMIM ID | 600243 |
| HGNC ID | 2665 |
| Aliases | OST2, DAD-1, defender against apoptotic death 1 |
Description
DAD1 (Defender Against Cell Death 1) encodes a subunit of the oligosaccharyltransferase (OST) complex, which catalyzes N-linked glycosylation of proteins in the endoplasmic reticulum. The protein is essential for cell viability and acts as a negative regulator of apoptosis. Loss of DAD1 function triggers programmed cell death, highlighting its role in cell survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorders of glycosylation (CDG) | Defective N-glycosylation due to OST complex dysfunction | PMID: 11157794 |
| Cancer (various) | DAD1 overexpression may inhibit apoptosis in tumor cells | PMID: 10488074 |
| Alzheimer's disease | Altered DAD1 expression linked to neuronal apoptosis | PMID: 10642508 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Heart | 12.8 | Medium |
| Liver | 10.5 | Low |
| Kidney | 14.1 | Medium |
| Lung | 11.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.5 | High expression |
| HeLa | 16.2 | High expression |
| K562 | 9.8 | Low expression |
| MCF7 | 13.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Reduced protein stability |
| c.200C>T | Nonsense | 0.005% | Premature truncation, loss of function |
| c.350G>A | Missense | 0.02% | Impaired OST complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that disrupt OST complex assembly or catalytic activity, leading to defective N-glycosylation and increased apoptosis.
Gain of Function (GOF)
Not reported for DAD1.
Dominant Negative (DN)
Not reported for DAD1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• N-glycan biosynthesis (KEGG: hsa00510)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
DAD1 is a 113-amino acid protein (12.5 kDa) that forms part of the oligosaccharyltransferase (OST) complex. It is localized to the endoplasmic reticulum membrane and is essential for the transfer of oligosaccharides to nascent polypeptides. The protein is highly conserved across eukaryotes and its loss triggers apoptosis, underscoring its role as a cell survival factor.
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