UPK3A
Uroplakin 3A
Gene Information Card
| Symbol | UPK3A |
|---|---|
| Full Name | Uroplakin 3A |
| Gene Type | protein-coding |
| Chromosomal Location | 22q13.31 |
| NCBI Gene ID | 7380 ncbi.nlm.nih.gov/gene/7380 |
| Ensembl ID | ENSG00000100373 |
| UniProt ID | O75631 |
| OMIM ID | 611559 |
| HGNC ID | 12579 |
| Aliases | UP3A, UPIIIa, UPK3 |
Description
UPK3A encodes uroplakin 3A, a transmembrane protein component of the urothelial plaque. It forms heterodimers with uroplakin 1B and is critical for the formation of asymmetric unit membrane (AUM) in bladder epithelium. Mutations in UPK3A cause renal adysplasia and are associated with bladder cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal adysplasia | Loss-of-function mutations disrupt urothelial development leading to kidney malformation | OMIM 611559 |
| Bladder cancer | Altered UPK3A expression correlates with urothelial carcinoma progression | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bladder | 78.5 | High |
| Kidney | 12.3 | Medium |
| Ureter | 45.2 | High |
| Prostate | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| RT4 (bladder) | 89.2 | Urothelial carcinoma cell line |
| T24 (bladder) | 2.1 | Low expression due to dedifferentiation |
| HEK293 | 0.5 | No endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, loss of function |
| c.349C>T (p.Arg117*) | nonsense | <0.01% | Premature stop, loss of function |
| c.502G>A (p.Gly168Arg) | missense | <0.01% | Impaired protein folding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations cause truncated protein, leading to renal adysplasia.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may interfere with heterodimer formation.
View complete mutation data：
Gene Ontology (GO)
| • structural molecule activity (GO:0005198) | • plasma membrane (GO:0005886) |
| • apical plasma membrane (GO:0016324) | • urothelial cell differentiation (GO:0030677) |
| • extracellular exosome (GO:0070062) |
Pathways
• Urothelial plaque formation
• Cell-cell adhesion
Protein Summary
UPK3A is a 27 kDa transmembrane protein with a single transmembrane domain. It forms heterodimers with uroplakin 1B and localizes to the apical membrane of urothelial cells. The protein is essential for the structural integrity of the urothelial barrier and is a marker of urothelial differentiation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UPK3A Knockout HEK293 Cell Line | EDJ-KQ6001 | Human | 7380 | Details Get a Quote |
| UPK3A Knockout HeLa Cell Line | EDJ-KQ54730 | Human | 7380 | Details Get a Quote |
| UPK3A Knockout A-549 Cell Line | EDJ-KQ63223 | Human | 7380 | Details Get a Quote |
| UPK3A Knockout HCT 116 Cell Line | EDJ-KQ71688 | Human | 7380 | Details Get a Quote |
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