SENP8
SUMO/Sentrin Specific Peptidase Family Member 8
Gene Information Card
| Symbol | SENP8 |
|---|---|
| Full Name | SUMO/Sentrin Specific Peptidase Family Member 8 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 123228 ncbi.nlm.nih.gov/gene/123228 |
| Ensembl ID | ENSG00000166165 |
| UniProt ID | Q96LD8 |
| OMIM ID | 609249 |
| HGNC ID | 22960 |
| Aliases | DEN1, NEDP1, PRSC2 |
Description
SENP8 (SUMO/Sentrin Specific Peptidase Family Member 8) encodes a cysteine protease that specifically cleaves NEDD8 from its conjugates. It is essential for the deneddylation of cullin-RING ubiquitin ligases, thereby regulating ubiquitination and protein degradation. SENP8 is also known as DEN1 (Deneddylase 1) and NEDP1.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Dysregulation of cullin-RING ligase activity via altered deneddylation may promote oncogenic signaling. | COSMIC; literature review |
| Neurodevelopmental disorders | Potential role via NEDD8 pathway modulation; limited direct evidence. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells |
| HeLa | 8.7 | Cervical cancer cells |
| K562 | 6.5 | Leukemia cells |
| HepG2 | 5.9 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% | p.Met1Val; potential loss of start codon |
| c.214C>T | missense | 0.005% | p.Arg72Trp; unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Missense mutations at conserved catalytic residues may impair deneddylase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008234 - cysteine-type peptidase activity | • GO:0019789 - NEDD8-specific protease activity |
| • GO:0006511 - ubiquitin-dependent protein catabolic process | • GO:0005634 - nucleus |
Pathways
• NEDD8 conjugation and deneddylation (Reactome: R-HSA-8951664)
• Cullin-RING ubiquitin ligase regulation (KEGG: hsa04120)
Protein Summary
SENP8 is a 212-amino acid cysteine protease that specifically removes NEDD8 from modified proteins, particularly cullins. It localizes to the nucleus and is critical for maintaining proper function of cullin-RING E3 ubiquitin ligases. The enzyme has a conserved catalytic triad (Cys, His, Asp) and is structurally distinct from other SUMO proteases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SENP8 Knockout HEK293 Cell Line | EDC07587 | Human | 123228 | Details Get a Quote |
| SENP8 Knockout HCT 116 Cell Line | EDJ-KQ24044 | Human | 123228 | Details Get a Quote |
| SENP8 Knockout A-549 Cell Line | EDJ-KQ25419 | Human | 123228 | Details Get a Quote |
| SENP8 Knockout HeLa Cell Line | EDJ-KQ25421 | Human | 123228 | Details Get a Quote |
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