TRIM54: Tripartite Motif Containing 54
A muscle-specific E3 ubiquitin ligase involved in sarcomere assembly and degradation
Gene Information Card
| Symbol | TRIM54 |
|---|---|
| Full Name | Tripartite Motif Containing 54 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 57159 ncbi.nlm.nih.gov/gene/57159 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q9BYV6 |
| OMIM ID | 606484 |
| HGNC ID | 18937 |
| Aliases | MURF3, RNF30, MURF-3 |
Description
TRIM54 (tripartite motif containing 54), also known as MURF3, encodes a member of the tripartite motif (TRIM) family. The protein contains a RING finger domain, a B-box zinc finger, and a coiled-coil region. It functions as an E3 ubiquitin ligase and is specifically expressed in cardiac and skeletal muscle. TRIM54 localizes to the sarcomere and is involved in myofibril assembly, microtubule stabilization, and proteasomal degradation of muscle proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Myopathy, myofibrillar, 9 (MFM9) | Loss-of-function mutations in TRIM54 disrupt sarcomere integrity, leading to myofibrillar disorganization and muscle weakness. | OMIM #617258; ClinVar |
| Distal myopathy | TRIM54 variants have been reported in patients with distal muscle weakness and rimmed vacuoles on biopsy. | ClinVar; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 68.5 | High |
| Heart | 42.3 | Medium |
| Testis | 1.2 | Low |
| Brain | 0.5 | Not detected |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (myoblast) | 12.1 | Differentiating myoblasts |
| LHCN-M2 (myotube) | 45.8 | Mature myotubes |
| H9c2 (rat cardiomyoblast) | 8.5 | Cardiac muscle cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Pro34Leu) | Missense | Rare | Impaired E3 ligase activity; associated with myopathy |
| c.256_258del (p.Lys86del) | In-frame deletion | Rare | Disrupts coiled-coil domain; reduced sarcomere binding |
| c.442C>T (p.Arg148*) | Nonsense | Very rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay. Missense mutations in RING domain impair ubiquitin ligase activity.
Gain of Function (GOF)
Not reported for TRIM54.
Dominant Negative (DN)
Some missense mutations may interfere with wild-type TRIM54 dimerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• Proteasome degradation (Reactome: R-HSA-983168)
Protein Summary
TRIM54 is a 355-amino acid protein (40.5 kDa) with a tripartite motif: RING finger (aa 17-55), B-box (aa 91-133), and coiled-coil (aa 140-190). It functions as an E3 ubiquitin ligase, targeting sarcomeric proteins such as myosin heavy chain and titin for proteasomal degradation. TRIM54 is anchored to the M-band and Z-disc of the sarcomere via its coiled-coil domain. It also interacts with microtubules and is essential for myofibril stability and turnover. Mutations cause myofibrillar myopathy type 9.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM54 Knockout HEK293 Cell Line | EDJ-KQ3006 | Human | 57159 | Details Get a Quote |
| TRIM54 Knockout HeLa Cell Line | EDJ-KQ56817 | Human | 57159 | Details Get a Quote |
| TRIM54 Knockout A-549 Cell Line | EDJ-KQ65326 | Human | 57159 | Details Get a Quote |
| TRIM54 Knockout HCT 116 Cell Line | EDJ-KQ73762 | Human | 57159 | Details Get a Quote |
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