USP43
Ubiquitin Specific Peptidase 43
Gene Information Card
| Symbol | USP43 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 43 |
| Gene Type | protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 124773 ncbi.nlm.nih.gov/gene/124773 |
| Ensembl ID | ENSG00000187772 |
| UniProt ID | Q5VU65 |
| OMIM ID | 611242 |
| HGNC ID | 20093 |
| Aliases | FLJ32130, MGC138290 |
Description
USP43 (Ubiquitin Specific Peptidase 43) is a protein-coding gene that encodes a member of the ubiquitin-specific protease (USP) family of deubiquitinating enzymes. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and function. USP43 is involved in cellular processes such as protein degradation, signal transduction, and cell cycle regulation. The gene is located on chromosome 17p13.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP43 may regulate tumor suppressor or oncoprotein stability via deubiquitination, but specific mechanisms are not fully characterized. | Limited evidence from expression studies and cancer genomics databases (COSMIC). |
| Neurodevelopmental disorders | Potential role in neuronal protein homeostasis; direct evidence lacking. | Inferred from USP family functions; no direct ClinVar or OMIM entries. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.4 | Low expression |
| K562 | 6.9 | Low expression |
| A549 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Predicted loss of function |
| c.567G>A (p.Trp189*) | Nonsense | <0.01% | Predicted loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | <0.01% | Unknown effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • proteolysis | • protein deubiquitination |
| • zinc ion binding |
Pathways
• Ubiquitin-mediated proteolysis
• Deubiquitination
Protein Summary
USP43 is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby regulating their stability and function. The protein contains a catalytic domain characteristic of ubiquitin-specific proteases. Its precise substrates and biological roles are still under investigation, but it is implicated in cellular homeostasis and potentially in cancer biology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP43 Knockout HEK293 Cell Line | EDJ-KQ7887 | Human | 124739 | Details Get a Quote |
| USP43 Knockout A-549 Cell Line | EDJ-KQ34760 | Human | 124739 | Details Get a Quote |
| USP43 Knockout HCT 116 Cell Line | EDJ-KQ34762 | Human | 124739 | Details Get a Quote |
| USP43 Knockout HeLa Cell Line | EDJ-KQ34763 | Human | 124739 | Details Get a Quote |
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