ECPAS: Ecm29 Proteasome Adaptor and Scaffold Protein
A key regulator of proteasome function and cellular protein homeostasis
Gene Information Card
| Symbol | ECPAS |
|---|---|
| Full Name | Ecm29 proteasome adaptor and scaffold |
| Gene Type | protein-coding |
| Chromosomal Location | 9q22.33 |
| NCBI Gene ID | 113251 ncbi.nlm.nih.gov/gene/113251 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q5VYK3 |
| OMIM ID | 617504 |
| HGNC ID | 28987 |
| Aliases | KIAA0368, Ecm29, PRO2855 |
Description
ECPAS encodes the Ecm29 proteasome adaptor and scaffold protein, which directly binds the 26S proteasome and regulates its assembly, stability, and subcellular localization. Ecm29 links the proteasome to endosomal membranes and is involved in quality control of proteasome function, particularly under oxidative stress. The gene is conserved from yeast to humans.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., Alzheimer's disease) | ECPAS dysfunction impairs proteasome-mediated clearance of aggregated proteins, leading to neuronal toxicity. | PMID: 25621951 |
| Cancer (e.g., breast, lung) | Altered ECPAS expression affects proteasome activity and cell proliferation; potential role in therapy resistance. | PMID: 30389920 |
| Proteasome-associated autoinflammatory syndromes | Mutations in ECPAS may disrupt proteasome homeostasis, contributing to immune dysregulation. | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.2 | High expression |
| HeLa | 11.0 | Medium expression |
| SH-SY5Y | 9.5 | Medium expression |
| MCF7 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2143C>T (p.Arg715Trp) | Missense | <0.01% | Unknown functional effect |
| c.2876_2877del (p.Leu959fs) | Frameshift | <0.01% | Predicted loss of function |
| c.1234G>A (p.Glu412Lys) | Missense | <0.01% | May affect proteasome binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of proteasome adaptor function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations in the proteasome-binding domain may interfere with wild-type Ecm29 function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Proteasome degradation (Reactome: R-HSA-983168)
• Ubiquitin-mediated proteolysis (KEGG: hsa04120)
• Protein processing in endoplasmic reticulum (KEGG: hsa04141)
Protein Summary
ECPAS encodes the Ecm29 protein (approximately 200 kDa), which contains multiple HEAT-like repeats and a C-terminal proteasome-binding domain. Ecm29 directly associates with the 26S proteasome, stabilizing its structure and modulating its activity. It also anchors the proteasome to endosomal membranes, facilitating degradation of membrane proteins. Under oxidative stress, Ecm29 protects the proteasome from disassembly and maintains cellular proteostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ECPAS Knockout HEK293 Cell Line | EDJ-KQ7329 | Human | 23392 | Details Get a Quote |
| ECPAS Knockout A-549 Cell Line | EDJ-KQ33748 | Human | 23392 | Details Get a Quote |
| ECPAS Knockout HCT 116 Cell Line | EDJ-KQ33749 | Human | 23392 | Details Get a Quote |
| ECPAS Knockout HeLa Cell Line | EDJ-KQ33750 | Human | 23392 | Details Get a Quote |
