EMC1

Description

The EMC1 (ER membrane protein complex subunit 1) is a protein-coding gene located on chromosome 1.

EMC1 is a component of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion of newly synthesized membrane proteins into endoplasmic reticulum membranes. It preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. EMC1 is involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. EMC1 is also required for the post-translational insertion of tail-anchored/TA proteins in endoplasmic reticulum membranes. By mediating the proper cotranslational insertion of N-terminal transmembrane domains in an N-exo topology, with translocated N-terminus in the lumen of the ER, EMC1 controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, EMC1 is indirectly involved in many cellular processes.

EMC1 is also known as CAVIPMR, KIAA0090.

Associated Diseases

• Cerebellar atrophy, visual impairment, and psychomotor retardation
• Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome