TRIM50: Tripartite Motif Containing 50
A member of the TRIM protein family involved in ubiquitination and potential roles in genetic disorders.
Gene Information Card
| Symbol | TRIM50 |
|---|---|
| Full Name | Tripartite Motif Containing 50 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q11.23 |
| NCBI Gene ID | 135295 ncbi.nlm.nih.gov/gene/135295 |
| Ensembl ID | ENSG00000185669 |
| UniProt ID | Q86XT4 |
| OMIM ID | 612548 |
| HGNC ID | 19089 |
| Aliases | FLJ35834, MGC131944 |
Description
TRIM50 (tripartite motif containing 50) is a protein-coding gene located on chromosome 7q11.23. It belongs to the tripartite motif (TRIM) family, characterized by a RING finger domain, B-box zinc fingers, and a coiled-coil region. TRIM50 is involved in ubiquitination and protein degradation pathways. It is expressed in multiple tissues and may play a role in cellular stress responses. Deletions or mutations in this gene have been associated with Williams-Beuren syndrome and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Williams-Beuren syndrome | Hemizygous deletion of 7q11.23 including TRIM50 | OMIM #194050; NCBI Gene |
| Intellectual disability | Potential contribution from TRIM50 loss in 7q11.23 deletion | ClinVar; literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Brain | 3.8 | Low |
| Heart | 2.1 | Not detected |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Low expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | Rare | Unknown effect |
| c.100C>T | Nonsense | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations predicted to cause premature truncation and loss of TRIM50 function.
Gain of Function (GOF)
No evidence for gain-of-function mutations in TRIM50.
Dominant Negative (DN)
No evidence for dominant-negative mutations in TRIM50.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • zinc ion binding (GO:0008270) |
| • metal ion binding (GO:0046872) | • ubiquitin protein ligase activity (GO:0061630) |
| • protein ubiquitination (GO:0016567) |
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• TRIM family pathway (Reactome: R-HSA-983168)
Protein Summary
TRIM50 is a 493-amino acid protein with a molecular weight of approximately 55 kDa. It contains a RING-type zinc finger domain (residues 15-56), two B-box-type zinc fingers (residues 91-132 and 161-202), and a coiled-coil region (residues 215-260). The RING domain confers E3 ubiquitin ligase activity, targeting substrates for proteasomal degradation. TRIM50 is localized in the cytoplasm and nucleus. Its expression is highest in testis and brain, suggesting roles in spermatogenesis and neuronal function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM50 Knockout HEK293 Cell Line | EDJ-KQ9367 | Human | 135892 | Details Get a Quote |
| TRIM50 Knockout HeLa Cell Line | EDJ-KQ58354 | Human | 135892 | Details Get a Quote |
| TRIM50 Knockout A-549 Cell Line | EDJ-KQ66842 | Human | 135892 | Details Get a Quote |
| TRIM50 Knockout HCT 116 Cell Line | EDJ-KQ75246 | Human | 135892 | Details Get a Quote |
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