Target intelligence / Profile preview

ER membrane protein complex subunit 1 (EMC1)

Target
EMC1
Molecular classification
ER membrane protein complex, single-pass transmembrane protein, WD repeat family
01

Overview

ER membrane protein complex subunit 1 (EMC1) is a single-pass type I transmembrane protein and a founding subunit of the ER membrane protein complex (EMC), an assembly that mediates insertion and folding of multi-pass and tail-anchored membrane proteins, especially those with challenging transmembrane domains. Human EMC1 contains a β-propeller domain, is structurally related to proteins that mediate substrate interactions, and plays wider roles in protein quality control, IP maturation, ER-mitochondrial tethering, and cholesterol regulation. Germline mutations in EMC1 cause multisystem developmental disorders with neurological and visual impairment. EMC1 is not the direct focus of current clinical drug development, but its complex is essential to integral membrane protein biosynthesis in eukaryotes

Other names
EMC1KIAA0090
02

Mechanism of action

Not applicable, as no drugs are reported to target EMC1 directly.

03

Biological functions

Membrane protein biogenesis and insertionProtein folding and assembly in the ERER-mitochondrial tetheringMaintenance of cholesterol homeostasis
04

Disease associations

Retinal dystrophyDevelopmental disorders with cerebellar atrophy, hypotonia, visual impairment, psychomotor retardationCancer (correlation of EMC subunit dysregulation with malignancies)Susceptibility to viral infection
05

Safety considerations

No direct safety concerns documented for EMC1 as a drug target; EMC subunit dysfunction could affect ER protein homeostasis and cause broad cellular dysfunction, making therapeutic targeting challenging
06

Biomarkers

Mutations in EMC1 are associated with certain developmental and retinal diseases, but EMC1 itself is not an established biomarker for patient selection or efficacy monitoring yet

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