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HERPUD1

Function

Component of the endoplasmic reticulum quality control (ERQC) system also called ER-associated degradation (ERAD) involved in ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:16289116, PubMed:28827405). Could enhance presenilin-mediated amyloid-beta protein 40 generation. Binds to ubiquilins and this interaction is required for efficient degradation of CD3D via the ERAD pathway (PubMed:18307982).

Tissue Specificity

Widely expressed; in the brain, expression seems to be restricted to neurons and vascular smooth muscle cells. Present in activated microglia in senile plaques in the brain of patients with Alzheimer disease.

Cellular localization

Alternative names

HERP, KIAA0025, MIF1, HERPUD1, Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 1 protein, Methyl methanesulfonate (MMF)-inducible fragment protein 1

swissprot:Q15011 omim:608070 entrezGene:9709