ERMP1 Gene - Endoplasmic Reticulum Metallopeptidase 1
Comprehensive gene information for ERMP1, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | ERMP1 |
|---|---|
| Full Name | Endoplasmic Reticulum Metallopeptidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 79956 ncbi.nlm.nih.gov/gene/79956 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q7Z6K5 |
| OMIM ID | 615532 |
| HGNC ID | 24258 |
| Aliases | KIAA1815, FLJ10597, MGC138290 |
Description
ERMP1 (Endoplasmic Reticulum Metallopeptidase 1) is a protein-coding gene located on chromosome 9p24.1. It encodes a zinc metallopeptidase localized to the endoplasmic reticulum, involved in proteolytic processing and quality control of proteins. The enzyme is thought to play a role in the degradation of misfolded proteins and in the regulation of cellular stress responses. ERMP1 is expressed in various tissues and has been implicated in cancer, particularly ovarian cancer, where it may influence tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ovarian cancer | Overexpression of ERMP1 may promote tumor cell proliferation and invasion through altered proteostasis. | COSMIC, ClinVar |
| Breast cancer | Differential expression observed; potential role in metastasis. | COSMIC |
| Endometrial cancer | Mutations and copy number alterations reported. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Ovary | 18.3 | High |
| Breast | 8.7 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| SK-OV-3 | 22.1 | Ovarian cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A | Missense | 0.02% | p.Gly412Arg; potential loss of function |
| c.567_568insC | Frameshift | <0.01% | Truncation; loss of function |
| c.890T>C | Missense | 0.01% | p.Leu297Pro; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not well characterized; some missense variants may alter substrate specificity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • endoplasmic reticulum (GO:0005783) |
| • proteolysis (GO:0006508) | • ER-associated ubiquitin-dependent protein catabolic process (GO:0030433) |
Pathways
• Endoplasmic reticulum-associated degradation (ERAD)
• Unfolded protein response (UPR)
Protein Summary
The ERMP1 protein is a 1027-amino acid zinc metallopeptidase with a transmembrane domain, localized to the endoplasmic reticulum. It functions in the ERAD pathway, cleaving misfolded proteins for degradation. The protein contains a conserved HEXXH motif characteristic of metalloproteases. Its activity is critical for maintaining ER homeostasis and preventing accumulation of toxic protein aggregates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ERMP1 Knockout HEK293 Cell Line | EDJ-KQ13322 | Human | 79956 | Details Get a Quote |
| ERMP1 Knockout A-549 Cell Line | EDJ-KQ41555 | Human | 79956 | Details Get a Quote |
| ERMP1 Knockout HCT 116 Cell Line | EDJ-KQ42790 | Human | 79956 | Details Get a Quote |
| ERMP1 Knockout HeLa Cell Line | EDJ-KQ42791 | Human | 79956 | Details Get a Quote |
