Integrated Stress Response (ISR) Project

SCOPING BIOLOGY_DOMAINFLAGSHIP

Species: human

Integrated Stress Response (ISR) Project

Bottom line: in the integrated stress response, four kinases (HRI, PKR,
PERK and GCN2) each sense a different stress and phosphorylate eIF2α, which
blocks the eIF2B exchange factor, dampens global translation and lets ATF4 be
translated. Scoped, not yet started as a project: this page lists about 18
candidate human genes, including the DELE1-OMA1 route from mitochondrial stress
to HRI, but no project-specific review work has been done. Five candidates
already have reviews from other work: EIF2AK3 (PERK), ATF4, ATF3 and EIF2B4 are
COMPLETE and OMA1 is IN_PROGRESS, 489 annotations between them. Thirteen have
no gene folder, including the hub EIF2S1 (eIF2α), three of the four kinases,
DELE1 and four of the five eIF2B subunits. There is no ISR module yet.

We scoped this because the ISR is a drug target (ISRIB), eIF2B mutations cause
vanishing white matter disease, and the DELE1-HRI branch was only described in
2020, so current GO annotation may not reflect it.

Overview

The Integrated Stress Response (ISR) is a conserved signaling pathway that responds to diverse cellular stresses by phosphorylating eIF2α, leading to global translation attenuation and selective translation of stress-response genes like ATF4. Recent discoveries include the DELE1-HRI mitochondrial stress pathway.

Model Species

Primary: Homo sapiens (human)
- Therapeutic target (ISRIB and related compounds)
- Disease relevance across multiple conditions

Core Pathway Architecture

1. eIF2α Kinases (Stress Sensors)

Four kinases sense different stresses:
- EIF2AK1 (HRI) - Heme deficiency, mitochondrial stress
- EIF2AK2 (PKR) - Viral dsRNA
- EIF2AK3 (PERK) - ER stress
- EIF2AK4 (GCN2) - Amino acid starvation

2. Mitochondrial Stress Signaling (New!)

3. Core Pathway

4. Transcriptional Response

Candidate Genes (~18)

Gene UniProt Function
EIF2AK1 Q9BQI3 HRI kinase
EIF2AK2 P19525 PKR kinase
EIF2AK3 Q9NZJ5 PERK kinase
EIF2AK4 Q9P2K8 GCN2 kinase
EIF2S1 P05198 eIF2α
DELE1 Q14154 Mitochondrial sensor
OMA1 Q96E52 DELE1 protease
ATF4 P18848 Master TF
DDIT3 P35638 CHOP
PPP1R15A O75807 GADD34
PPP1R15B Q5SWA1 CReP
EIF2B1-5 various eIF2B complex

Key Recent Discoveries (2020+)

Disease Relevance

Project Status

Slides