SERP1
Stress-Associated Endoplasmic Reticulum Protein 1
Gene Information Card
| Symbol | SERP1 |
|---|---|
| Full Name | Stress-Associated Endoplasmic Reticulum Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q25.31 |
| NCBI Gene ID | 27230 ncbi.nlm.nih.gov/gene/27230 |
| Ensembl ID | ENSG00000163687 |
| UniProt ID | Q9Y6X1 |
| OMIM ID | 608863 |
| HGNC ID | 10759 |
| Aliases | RAMP4, SERP1_HUMAN |
Description
SERP1 (Stress-Associated Endoplasmic Reticulum Protein 1) encodes a protein that resides in the endoplasmic reticulum (ER) membrane. It is induced under ER stress conditions and plays a role in the unfolded protein response (UPR) by stabilizing the ER membrane and facilitating protein folding. The protein is also known as ribosome-associated membrane protein 4 (RAMP4).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes Mellitus, Type 2 | SERP1 upregulation in pancreatic beta cells under ER stress may contribute to beta cell dysfunction and apoptosis. | PMID: 19074966 |
| Alzheimer Disease | SERP1 expression is altered in response to ER stress in neuronal cells, potentially affecting amyloid-beta toxicity. | PMID: 21741930 |
| Cancer (various) | SERP1 is overexpressed in some cancers, possibly promoting survival under ER stress conditions. | PMID: 22952447 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Brain | 10.5 | Medium |
| Heart | 8.3 | Low |
| Kidney | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | High expression |
| HEK 293 | 16.7 | High expression |
| HepG2 | 14.1 | Medium expression |
| SH-SY5Y | 11.3 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional effect |
| c.100C>T | Synonymous | <0.01% | No known effect |
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 membrane | • unfolded protein response |
| • protein folding | • response to endoplasmic reticulum stress |
| • integral component of membrane |
Pathways
• Unfolded Protein Response (UPR) - Reactome R-HSA-381119
• ER Stress Pathway - KEGG hsa04141
Protein Summary
SERP1 is a 66-amino acid transmembrane protein localized to the endoplasmic reticulum (ER). It is induced by ER stress and functions as a ribosome-associated membrane protein (RAMP4) that stabilizes the ER membrane during the unfolded protein response. It interacts with the translocon complex and may regulate protein translocation and folding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERP1 Knockout HEK293 Cell Line | EDJ-KQ51208 | Human | 27230 | Details Get a Quote |
| SERP1 Knockout HeLa Cell Line | EDJ-KQ56034 | Human | 27230 | Details Get a Quote |
| SERP1 Knockout A-549 Cell Line | EDJ-KQ64521 | Human | 27230 | Details Get a Quote |
| SERP1 Knockout HCT 116 Cell Line | EDJ-KQ72979 | Human | 27230 | Details Get a Quote |
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