USP17L29 Gene - Ubiquitin Specific Peptidase 17 Like Family Member 29
A deubiquitinase gene from the USP17-like family, implicated in cell proliferation and potential oncogenic roles.
Gene Information Card
| Symbol | USP17L29 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 29 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 (GRCh38) |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000235109 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | Not available |
| HGNC ID | 44433 |
| Aliases | USP17L29, DUB-3 like |
Description
USP17L29 is a protein-coding gene belonging to the USP17-like family of deubiquitinating enzymes. It is located on chromosome 4p16.1, a region known for copy number variations. The gene encodes a protein with a peptidase C19 domain, characteristic of ubiquitin-specific proteases. USP17L29 is thought to play a role in deubiquitination, potentially regulating cell proliferation and apoptosis. Its expression is often dysregulated in certain cancers, suggesting a possible oncogenic role, though functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Overexpression may promote cell proliferation via deubiquitination of oncogenic substrates; exact mechanism not fully defined. | Expression data from COSMIC and literature (limited) |
| Breast Cancer | Potential involvement in tumorigenesis through regulation of cell cycle proteins; evidence from expression profiling. | COSMIC mutation data and expression studies |
| Colorectal Cancer | Altered expression observed; may affect apoptosis and proliferation, but direct evidence is scarce. | COSMIC and NCBI Gene expression data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression |
| Lung | Not available | Moderate expression |
| Breast | Not available | Low expression |
| Colon | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Expression detected in some studies |
| A549 | Not available | Expression detected in lung cancer cell lines |
| MCF7 | Not available | Expression detected in breast cancer cell lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon, affecting translation |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
| Copy number gain | CNV | Common in cancers | May lead to overexpression |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations are not well characterized; may impair deubiquitinase activity, potentially affecting substrate regulation.
Gain of Function (GOF)
Gain-of-function via copy number amplification may increase deubiquitinase activity, promoting oncogenic pathways.
Dominant Negative (DN)
No evidence for dominant-negative effects currently.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
Pathways
• Ubiquitin-proteasome pathway
• Cell cycle regulation
Protein Summary
The USP17L29 protein is a deubiquitinase that removes ubiquitin from target proteins, thereby stabilizing them. It contains a peptidase C19 domain essential for its catalytic activity. While its specific substrates are not fully identified, it is implicated in cell proliferation and survival. Structural studies suggest it may interact with components of the cell cycle machinery. Further research is needed to fully elucidate its biological functions and pathological roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L29 Knockout HEK293 Cell Line | EDJ-KQ16072 | Human | 728405 | Details Get a Quote |
| USP17L29 Knockout A-549 Cell Line | EDJ-KQ47193 | Human | 728405 | Details Get a Quote |
| USP17L29 Knockout HCT 116 Cell Line | EDJ-KQ47194 | Human | 728405 | Details Get a Quote |
| USP17L29 Knockout HeLa Cell Line | EDJ-KQ47195 | Human | 728405 | Details Get a Quote |
