UBXN10 Gene
UBX Domain Protein 10: A Regulator of Ciliogenesis and Vesicle Trafficking
Gene Information Card
| Symbol | UBXN10 |
|---|---|
| Full Name | UBX Domain Protein 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 118988 ncbi.nlm.nih.gov/gene/118988 |
| Ensembl ID | ENSG00000162618 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 618157 |
| HGNC ID | 26369 |
| Aliases | SOSB, FLJ22662 |
Description
UBXN10 (UBX Domain Protein 10) encodes a protein containing a UBX domain, which is involved in ubiquitin-related processes and vesicle trafficking. The protein localizes to the basal body of primary cilia and is essential for ciliogenesis. It interacts with the VCP/p97 complex and may regulate protein degradation pathways. UBXN10 is expressed in multiple tissues, with highest levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | UBXN10 mutations impair ciliogenesis, leading to renal cystic disease and ciliopathy phenotypes. | ClinVar; PMID: 28966033 |
| Joubert Syndrome | Disruption of UBXN10 function affects primary cilia signaling, contributing to cerebellar and retinal defects. | OMIM; PMID: 28966033 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Kidney | 6.8 | Low |
| Lung | 5.1 | Low |
| Liver | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.9 | Moderate expression |
| HeLa | 6.2 | Low expression |
| SH-SY5Y | 11.4 | Higher expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.487G>A (p.Gly163Arg) | Missense | Rare | Likely damaging; affects UBX domain folding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or mRNA decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the UBX domain may exert dominant-negative effects by interfering with VCP/p97 binding.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
| • cell projection organization (GO:0030030) | • cilium assembly (GO:0060271) |
Pathways
• VCP/p97-mediated protein degradation
• Ciliogenesis and primary cilium assembly
Protein Summary
UBXN10 is a 441-amino acid protein containing a UBX domain at the C-terminus. It localizes to the centrosome and basal body, where it interacts with VCP/p97 to regulate protein homeostasis during cilia formation. The protein is highly conserved in vertebrates and plays a critical role in the assembly and maintenance of primary cilia, which are essential for cellular signaling and development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBXN10 Knockout HEK293 Cell Line | EDJ-KQ9138 | Human | 127733 | Details Get a Quote |
| UBXN10 Knockout HeLa Cell Line | EDJ-KQ58218 | Human | 127733 | Details Get a Quote |
| UBXN10 Knockout A-549 Cell Line | EDJ-KQ66708 | Human | 127733 | Details Get a Quote |
| UBXN10 Knockout HCT 116 Cell Line | EDJ-KQ75120 | Human | 127733 | Details Get a Quote |
