RCE1: Ras Converting CAAX Endopeptidase 1
A key protease in the post-translational processing of CAAX-motif proteins, including Ras GTPases.
Gene Information Card
| Symbol | RCE1 |
|---|---|
| Full Name | Ras Converting CAAX Endopeptidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 9986 ncbi.nlm.nih.gov/gene/9986 |
| Ensembl ID | ENSG00000110321 |
| UniProt ID | Q9Y256 |
| OMIM ID | 602436 |
| HGNC ID | 9930 |
| Aliases | FACE2, RCE1A, RCE1B |
Description
RCE1 encodes a type II membrane-bound endoprotease that cleaves the -AAX motif from prenylated CAAX proteins, such as Ras and Rho GTPases, enabling their proper membrane localization and function. This processing is essential for cell signaling, proliferation, and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, colorectal, lung) | Loss of RCE1 function impairs Ras processing, potentially altering oncogenic signaling | COSMIC; PMID: 22158537 |
| Cardiomyopathy, dilated | Rare missense variants may disrupt cardiac Ras/MAPK signaling | ClinVar; PMID: 28492532 |
| Noonan syndrome-like disorder | Dysregulation of RAS-MAPK pathway via altered CAAX processing | OMIM; PMID: 27513193 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Heart | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 5.4 | Low |
| Pancreas | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.3 | Embryonic kidney; moderate expression |
| HeLa | 7.1 | Cervical carcinoma; low expression |
| A549 | 6.8 | Lung carcinoma; low expression |
| MCF7 | 5.2 | Breast carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.541C>T (p.Arg181Trp) | Missense | 0.0004 (gnomAD) | Unknown; reported in dilated cardiomyopathy |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
| c.1048C>T (p.Arg350*) | Nonsense | Rare | Loss of function; predicted NMD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants that truncate the catalytic domain or trigger nonsense-mediated decay.
Gain of Function (GOF)
Not well documented; no known activating mutations in RCE1.
Dominant Negative (DN)
Missense variants that retain binding but lack catalytic activity may act in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity (GO:0004222) | • proteolysis (GO:0006508) |
| • integral component of membrane (GO:0016021) | • CAAX-box protein processing (GO:0071586) |
| • plasma membrane (GO:0005886) |
Pathways
• RAS processing (Reactome: R-HSA-9649725)
• Protein prenylation and CAAX processing (Reactome: R-HSA-8873719)
• MAPK signaling (KEGG: hsa04010)
Protein Summary
RCE1 (Ras converting CAAX endopeptidase 1) is a 329-amino-acid integral membrane metalloprotease localized to the endoplasmic reticulum. It cleaves the three C-terminal residues (-AAX) from prenylated proteins, a critical step for their membrane anchoring. RCE1 is ubiquitously expressed and plays a central role in the maturation of Ras superfamily GTPases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIERCE1 Knockout HEK293 Cell Line | EDJ-KQ14757 | Human | 138162 | Details Get a Quote |
| PIERCE1 Knockout A-549 Cell Line | EDJ-KQ45132 | Human | 138162 | Details Get a Quote |
| PIERCE1 Knockout HCT 116 Cell Line | EDJ-KQ45133 | Human | 138162 | Details Get a Quote |
| PIERCE1 Knockout HeLa Cell Line | EDJ-KQ45134 | Human | 138162 | Details Get a Quote |
| SMARCE1 Knockout HEK293 Cell Line | EDC90425 | Human | 6605 | Details Get a Quote |
| RCE1 Knockout HEK293 Cell Line | EDJ-KQ50923 | Human | 9986 | Details Get a Quote |
| SMARCE1 Knockout HeLa Cell Line | EDJ-KQ54524 | Human | 6605 | Details Get a Quote |
| RCE1 Knockout HeLa Cell Line | EDJ-KQ55293 | Human | 9986 | Details Get a Quote |
| SMARCE1 Knockout A-549 Cell Line | EDJ-KQ63008 | Human | 6605 | Details Get a Quote |
| RCE1 Knockout A-549 Cell Line | EDJ-KQ63775 | Human | 9986 | Details Get a Quote |
| SMARCE1 Knockout HCT 116 Cell Line | EDJ-KQ71483 | Human | 6605 | Details Get a Quote |
| RCE1 Knockout HCT 116 Cell Line | EDJ-KQ72234 | Human | 9986 | Details Get a Quote |
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