DESI1: DeSUMOylating Isopeptidase 1
A key regulator of SUMOylation dynamics with roles in cellular homeostasis and disease.
Gene Information Card
| Symbol | DESI1 |
|---|---|
| Full Name | DeSUMOylating Isopeptidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 27351 ncbi.nlm.nih.gov/gene/27351 |
| Ensembl ID | ENSG00000100253 |
| UniProt ID | Q6ICB0 |
| OMIM ID | 615839 |
| HGNC ID | 28438 |
| Aliases | C22orf26, DESI-1, PPPDE1, PNAS-4 |
Description
DESI1 encodes a cysteine protease that specifically removes the small ubiquitin-like modifier (SUMO) from target proteins, thereby regulating SUMOylation dynamics. It is involved in cellular processes including cell cycle control, DNA repair, and transcriptional regulation. The enzyme belongs to the DESI family of deSUMOylating isopeptidases and is conserved across eukaryotes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of SUMOylation pathways; DESI1 overexpression may alter substrate deSUMOylation affecting tumor suppression or oncogene activity. | COSMIC; literature review |
| Neurodevelopmental disorders | Potential role via SUMOylation of neuronal proteins; direct evidence limited. | OMIM; ClinVar (rare variants) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Kidney | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.3 | Embryonic kidney; moderate expression |
| HeLa | 7.9 | Cervical carcinoma; low expression |
| K562 | 6.5 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown; predicted damaging (SIFT, PolyPhen) |
| c.482G>A (p.Arg161Gln) | Missense | <0.01% | Unknown; predicted benign |
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 evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Protein deSUMOylation (GO:0016926) | • Cysteine-type peptidase activity (GO:0008234) |
| • Nucleus (GO:0005634) | • Cytosol (GO:0005829) |
Pathways
• ['SUMOylation pathway (Reactome: R-HSA-2990846)']
• ['Protein ubiquitination and deubiquitination (indirect)']
Protein Summary
DESI1 is a 231-amino acid cysteine protease (UniProt Q6ICB0) that catalyzes the removal of SUMO from modified proteins. It contains a conserved PPPDE (Permuted Papain-fold Peptidases of Double-stranded RNA viruses and Eukaryotes) domain. The enzyme is predominantly nuclear and cytoplasmic, and its activity is essential for proper cell cycle progression and response to DNA damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DESI1 Knockout HEK293 Cell Line | EDJ-KQ8778 | Human | 27351 | Details Get a Quote |
| DESI1 Knockout A-549 Cell Line | EDJ-KQ35049 | Human | 27351 | Details Get a Quote |
| DESI1 Knockout HeLa Cell Line | EDJ-KQ35050 | Human | 27351 | Details Get a Quote |
| DESI1 Knockout HCT 116 Cell Line | EDJ-KQ33797 | Human | 27351 | Details Get a Quote |
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