USP17L12: Ubiquitin-Specific Protease 17-Like Family Member 12
A deubiquitinating enzyme gene with potential roles in cell proliferation and cancer, though functional data remain limited.
Gene Information Card
| Symbol | USP17L12 |
|---|---|
| Full Name | Ubiquitin specific peptidase 17 like family member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 (GRCh38: 4:9,267,000-9,270,000 approx.) |
| NCBI Gene ID | 100287403 ncbi.nlm.nih.gov/gene/100287403 |
| Ensembl ID | ENSG00000235184 |
| UniProt ID | A0A0A0MRZ3 (predicted) |
| OMIM ID | None assigned |
| HGNC ID | 37244 |
| Aliases | USP17L12, DUB-3-like, FLJ43860 |
Description
USP17L12 is a protein-coding gene belonging to the USP17 family of deubiquitinating enzymes. It is located on chromosome 4p16.1 and is predicted to encode a cysteine protease that removes ubiquitin from target proteins, potentially regulating cell cycle and apoptosis. The gene is part of a cluster of USP17-like genes that have arisen through duplication. Expression data suggest low to moderate levels in various tissues, but functional studies are sparse. USP17L12 has been implicated in cancer through its family members, but direct evidence for this gene is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP17 family members are known to regulate cell proliferation and survival by deubiquitinating targets such as PCNA and p53. USP17L12 may have similar oncogenic roles, but direct evidence is lacking. | Inferred from family members; no direct ClinVar or COSMIC entries for USP17L12. |
| Inflammatory diseases | USP17 family members modulate NF-kB signaling. USP17L12 might influence inflammation, but no specific disease association is established. | Inferred from family members; no direct evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.1 | Low |
| Lymph node | 1.5 | Low |
| Spleen | 1.2 | Low |
| Bone marrow | 0.8 | Not detected |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 1.8 | Low expression |
| HeLa | 1.0 | Low expression |
| A549 | 0.5 | Very low |
| MCF7 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No curated variants | N/A | N/A | No disease-associated variants reported in ClinVar or COSMIC for USP17L12. |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for USP17L12. Family members with loss of DUB activity can lead to accumulation of ubiquitinated substrates, affecting cell cycle checkpoints.
Gain of Function (GOF)
No gain-of-function mutations reported. Overexpression of USP17 family members is seen in some cancers, potentially enhancing deubiquitination of oncogenic substrates.
Dominant Negative (DN)
No dominant-negative mutations described. However, catalytically inactive USP17 mutants can act as dominant negatives by binding substrates without cleaving ubiquitin.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
| • regulation of cell cycle |
Pathways
• Ubiquitin-Proteasome Pathway
• p53 signaling (via deubiquitination of MDM2/p53)
• NF-kB signaling (via deubiquitination of TRAFs)
Protein Summary
The USP17L12 protein is a predicted deubiquitinase with a catalytic domain typical of ubiquitin-specific proteases. It likely removes ubiquitin moieties from specific substrates, thereby preventing their proteasomal degradation. The protein is predicted to localize to the cytoplasm and nucleus. Due to high sequence similarity with other USP17 family members, its exact substrates and functions remain to be experimentally validated. Structural studies are lacking, but homology modeling suggests a conserved catalytic triad (Cys, His, Asp).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L12 Knockout HEK293 Cell Line | EDJ-KQ16056 | Human | 100287205 | Details Get a Quote |
| USP17L12 Knockout HeLa Cell Line | EDJ-KQ60856 | Human | 100287205 | Details Get a Quote |
| USP17L12 Knockout A-549 Cell Line | EDJ-KQ69330 | Human | 100287205 | Details Get a Quote |
| USP17L12 Knockout HCT 116 Cell Line | EDJ-KQ77684 | Human | 100287205 | Details Get a Quote |
