USP35 Gene - Ubiquitin Specific Peptidase 35
Genetic and Functional Insights into USP35
Gene Information Card
| Symbol | USP35 |
|---|---|
| Full Name | Ubiquitin specific peptidase 35 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q14.2 |
| NCBI Gene ID | 57558 ncbi.nlm.nih.gov/gene/57558 |
| Ensembl ID | ENSG00000149269 |
| UniProt ID | Q9P2H5 |
| OMIM ID | 619663 |
| HGNC ID | 20066 |
| Aliases | FLJ14442 |
Description
USP35 (Ubiquitin Specific Peptidase 35) is a protein-coding gene that encodes a deubiquitinating enzyme. It is involved in the regulation of protein ubiquitination, influencing various cellular processes including cell cycle, apoptosis, and DNA damage response. USP35 has been implicated in several cancers and neurological disorders, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | USP35 overexpression may promote tumorigenesis by deubiquitinating and stabilizing oncoproteins or by inhibiting apoptosis. | COSMIC: mutations and copy number alterations observed in multiple cancer types; ClinVar: variants reported in cancer predisposition. |
| Parkinson's disease | USP35 may regulate mitophagy and mitochondrial function, and its dysregulation could contribute to neurodegeneration. | UniProt: functional studies; OMIM: no direct disease association yet, but related pathways implicated. |
| Epilepsy | USP35 variants have been associated with epilepsy in some studies, possibly through effects on neuronal signaling. | ClinVar: rare variants reported in patients with epilepsy. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 10.2 | Low |
| Testis | 8.5 | Low |
| Kidney | 7.8 | Low |
| Liver | 6.1 | Low |
| Lung | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | Moderate expression |
| A549 | 9.8 | Low expression |
| MCF7 | 8.2 | Low expression |
| HEK293 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.567C>T (p.Arg189Trp) | Missense | 0.005% (gnomAD) | Unknown; possibly damaging |
| c.890_891del (p.Glu297fs) | Frameshift | Rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein likely result in loss of deubiquitinase activity, potentially impairing cellular processes.
Gain of Function (GOF)
Missense mutations that increase USP35 stability or activity could lead to enhanced deubiquitination of oncogenic substrates, promoting cancer.
Dominant Negative (DN)
Some missense mutations may produce a protein that interferes with wild-type USP35 function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • proteolysis |
| • ubiquitin-dependent protein catabolic process | • regulation of apoptotic process |
| • mitochondrial outer membrane |
Pathways
• Ubiquitin-Proteasome Dependent Proteolysis
• Mitophagy
• DNA Damage Response
Protein Summary
USP35 is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby preventing their degradation by the proteasome. It contains a catalytic domain characteristic of ubiquitin-specific proteases. USP35 is localized to the cytoplasm and mitochondria, where it regulates mitochondrial dynamics and apoptosis. Its expression is relatively low across tissues, but it is upregulated in certain cancers, suggesting a role in tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP35 Knockout HEK293 Cell Line | EDJ-KQ16079 | Human | 57558 | Details Get a Quote |
| USP35 Knockout A-549 Cell Line | EDJ-KQ47210 | Human | 57558 | Details Get a Quote |
| USP35 Knockout HCT 116 Cell Line | EDJ-KQ47211 | Human | 57558 | Details Get a Quote |
| USP35 Knockout HeLa Cell Line | EDJ-KQ47212 | Human | 57558 | Details Get a Quote |
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