PDZRN3 Gene Summary [Human]
This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Details
| Type | Protein Coding |
| Official Symbol | PDZRN3 |
| Official Name | PDZ domain containing ring finger 3 [Source:HGNC Symbol;Acc:HGNC:17704] |
| Ensembl ID | ENSG00000121440 |
| Bio databases IDs | |
| Aliases | PDZ domain containing ring finger 3, likely ortholog of mouse semaF cytoplasmic domain associated protein 3 |
| Synonyms | 1110020C07Rik, LNX3, PDZ domain containing RING finger 3, SEMACA, SEMACAP3, SEMCAP3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PDZRN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- ubiquitin protein ligase activity
- canonical PDZ domain
- enzyme
- Ring finger domain
- protein binding
- PDZ domain
- RING-type zinc-finger
- RING finger (Really Interesting New Gene) domain and U-box domain superfamily
- Modified RING finger domain
- Ring finger
- ubiquitin-protein transferase activity
- zinc finger domain
- cpPDZ_Deg_HtrA-like
- Zinc finger, C3HC4 type (RING finger)
- zinc-RING finger domain
- cpPDZ_RseP_YlbL-like
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- early-onset schizophrenia
- chronic kidney disease
- uterine serous papillary cancer
- carcinoma in situ
- epithelial cancer in situ
- metastatic colorectal cancer
- acute myeloid leukemia
regulates
role in cell
- growth
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- neuromuscular junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PDZRN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuromuscular junction development
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- neuromuscular junction
Molecular Function
What the gene product does at the molecular level
- ubiquitin-protein ligase activity
- zinc ion binding