HERPUD1

Description

The HERPUD1 (homocysteine inducible ER protein with ubiquitin like domain 1) is a protein-coding gene located on chromosome 16.

The HERPUD1 gene encodes the Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein. This protein is involved in the ER stress response, which is triggered by the buildup of unfolded proteins in the endoplasmic reticulum (ER). This response includes the halting of protein production to prevent further accumulation of unfolded proteins, the increased production of proteins that aid in protein folding (the unfolded protein response or UPR), and the removal of misfolded proteins through the ER-associated protein degradation (ERAD) system. HERPUD1 might play a role in both the UPR and ERAD. Its production is stimulated by the UPR, and its promoter region contains an ER stress response element. The HERPUD1 protein has an N-terminal ubiquitin-like domain that may interact with the ERAD system. This protein has been shown to interact with presenilin proteins and increase the levels of amyloid-beta protein after overexpression. Alternative splicing of the HERPUD1 gene generates multiple transcript variants, some of which encode different isoforms. The full-length nature of all transcript variants has not been determined. HERPUD1 interacts with UBQLN1 and UBQLN2.

HERPUD1 is part of the endoplasmic reticulum quality control (ERQC) system, also known as ER-associated degradation (ERAD), which is responsible for degrading misfolded proteins in the endoplasmic reticulum (ER). It plays a role in ubiquitin-dependent degradation of these misfolded proteins (PMID:16289116, PMID:28827405). HERPUD1 might also enhance the production of amyloid-beta protein 40 through its interaction with presenilins. Additionally, HERPUD1 binds to ubiquilins, which is essential for the efficient degradation of CD3D through the ERAD pathway (PMID:18307982).

HERPUD1 is also known as HERP, Mif1, SUP.

Associated Diseases

WES Whole Exome Sequencing