UBQLN3
Ubiquilin 3
Gene Information Card
| Symbol | UBQLN3 |
|---|---|
| Full Name | Ubiquilin 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 50613 ncbi.nlm.nih.gov/gene/50613 |
| Ensembl ID | ENSG00000148848 |
| UniProt ID | Q9H3R5 |
| OMIM ID | 605648 |
| HGNC ID | 12510 |
| Aliases | TUP-1, TUP1 |
Description
UBQLN3 (Ubiquilin 3) encodes a member of the ubiquilin family. The protein contains an N-terminal ubiquitin-like (UBL) domain and a C-terminal ubiquitin-associated (UBA) domain. It functions in the ubiquitin-proteasome system, linking ubiquitinated proteins to the proteasome for degradation. UBQLN3 is predominantly expressed in testis and is involved in spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | UBQLN3 mutations may impair proteasomal degradation during spermatogenesis, leading to defective sperm production. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 31.2 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | N/A | High expression in germ cells |
| Sertoli cells | N/A | Low expression |
| Leydig cells | N/A | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss of start codon (p.Met1?) is predicted to abolish protein translation.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin-proteasome pathway (Reactome: R-HSA-983168)
Protein Summary
Ubiquilin 3 is a 552-amino acid protein with a ubiquitin-like domain at the N-terminus and a ubiquitin-associated domain at the C-terminus. It acts as a shuttle factor, delivering polyubiquitinated substrates to the proteasome. Expression is highly restricted to testis, suggesting a specialized role in spermatogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UBQLN3 Knockout HEK293 Cell Line | EDJ-KQ10781 | Human | 50613 | Details Get a Quote |
| UBQLN3 Knockout HeLa Cell Line | EDJ-KQ56171 | Human | 50613 | Details Get a Quote |
| UBQLN3 Knockout A-549 Cell Line | EDJ-KQ64661 | Human | 50613 | Details Get a Quote |
| UBQLN3 Knockout HCT 116 Cell Line | EDJ-KQ73110 | Human | 50613 | Details Get a Quote |
