HERPUD1: Homocysteine-Inducible ER Stress Protein with Ubiquitin-Like Domain 1
Key regulator of endoplasmic reticulum (ER) stress response and unfolded protein response (UPR).
Gene Information Card
| Symbol | HERPUD1 |
|---|---|
| Full Name | Homocysteine-Inducible, Endoplasmic Reticulum Stress-Inducible, Ubiquitin-Like Domain Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q13.3 |
| NCBI Gene ID | 9709 ncbi.nlm.nih.gov/gene/9709 |
| Ensembl ID | ENSG00000103512 |
| UniProt ID | Q15011 |
| OMIM ID | 608070 |
| HGNC ID | 13744 |
| Aliases | HERP, SUP, KIAA0025, MIF1 |
Description
HERPUD1 encodes a protein localized to the endoplasmic reticulum (ER) that contains an N-terminal ubiquitin-like domain. It is strongly induced by ER stress and homocysteine, playing a critical role in the unfolded protein response (UPR) by facilitating ER-associated degradation (ERAD) of misfolded proteins. The protein interacts with components of the proteasome and ERAD machinery, and its expression is regulated by the transcription factor ATF6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Upregulation of HERPUD1 in response to ER stress may contribute to amyloid-beta accumulation and neuronal dysfunction. | ClinVar, NCBI Gene |
| Type 2 diabetes | ER stress-induced HERPUD1 expression in pancreatic beta cells may affect insulin secretion and cell survival. | NCBI Gene, UniProt |
| Cancer (various) | Dysregulated HERPUD1 expression linked to tumor progression and chemoresistance via ER stress modulation. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Pancreas | 15.1 | Medium |
| Heart | 6.7 | Low |
| Kidney | 10.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Moderate expression |
| HepG2 | 20.1 | High expression |
| SH-SY5Y | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown significance; not reported in ClinVar |
| c.544G>A (p.Gly182Arg) | Missense | <0.01% | Unknown significance; not reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • endoplasmic reticulum (GO:0005783) | • response to unfolded protein (GO:0006986) |
| • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) | • protein binding (GO:0005515) |
| • cytosol (GO:0005829) |
Pathways
• Unfolded Protein Response (UPR) - Reactome R-HSA-381119
• ER-Phagosome Pathway - Reactome R-HSA-1236974
• ATF6-alpha activates chaperones - Reactome R-HSA-381183
Protein Summary
The HERPUD1 protein (UniProt Q15011) is a 391-amino-acid ER membrane protein with an N-terminal ubiquitin-like domain. It acts as a scaffold linking the ERAD machinery to the proteasome, promoting degradation of misfolded proteins. It is induced by ER stress via ATF6 and is involved in cellular homeostasis, apoptosis, and survival under stress conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HERPUD1 Knockout HEK293 Cell Line | EDJ-KQ6704 | Human | 9709 | Details Get a Quote |
| HERPUD1 Knockout A-549 Cell Line | EDJ-KQ31063 | Human | 9709 | Details Get a Quote |
| HERPUD1 Knockout HeLa Cell Line | EDJ-KQ31064 | Human | 9709 | Details Get a Quote |
| HERPUD1 Knockout HCT 116 Cell Line | EDJ-KQ29711 | Human | 9709 | Details Get a Quote |
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