Recombinant Human Uncharacterized protein KIAA0090 (KIAA0090), Truncated

Uniprot Id

Q8N766

Target Species

Human

Target Name

EMC1

Target Full Name

ER membrane protein complex subunit 1

Target Function

Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins. Preferentially accommodates proteins with transmembrane domains that are weakly hydrophobic or contain destabilizing features such as charged and aromatic residues. Involved in the cotranslational insertion of multi-pass membrane proteins in which stop-transfer membrane-anchor sequences become ER membrane spanning helices. It 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, controls the topology of multi-pass membrane proteins like the G protein-coupled receptors. By regulating the insertion of various proteins in membranes, it is indirectly involved in many cellular processes (Probable).

Target Involvement

Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR)

Target Subcellular Location

Endoplasmic reticulum membrane; Single-pass type I membrane protein.

Target Protein Families

EMC1 family

Target Synonyms

2700016F22Rik; C230096C10Rik; Emc1; ER membrane protein complex subunit 1; Hypothetical protein LOC23065; K0090_HUMAN; KIAA0090; mKIAA0090; OTTHUMP00000215527; PSEC0263; RIKEN cDNA C230096C10 gene; RP1-43E13.1; RP23-371E13.1; Uncharacterized protein KIAA0090

Target Background

This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.