TRIM32: Tripartite Motif Containing 32
E3 ubiquitin-protein ligase involved in muscle development, neuronal function, and tumor suppression
Gene Information Card
| Symbol | TRIM32 |
|---|---|
| Full Name | Tripartite Motif Containing 32 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q33.1 |
| NCBI Gene ID | 22954 ncbi.nlm.nih.gov/gene/22954 |
| Ensembl ID | ENSG00000104833 |
| UniProt ID | Q13049 |
| OMIM ID | 602290 |
| HGNC ID | 16380 |
| Aliases | BBS11, HT2A, LGMD2H, TATIP |
Description
TRIM32 encodes a member of the tripartite motif (TRIM) family, characterized by RING finger, B-box, and coiled-coil domains. The protein functions as an E3 ubiquitin-protein ligase, targeting substrates for proteasomal degradation. It plays critical roles in skeletal muscle maintenance, neuronal development, and cell cycle regulation. Mutations in TRIM32 cause limb-girdle muscular dystrophy type 2H (LGMD2H) and Bardet-Biedl syndrome type 11 (BBS11).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Limb-girdle muscular dystrophy type 2H (LGMD2H) | Loss-of-function mutations impair ubiquitin ligase activity, leading to defective protein turnover and muscle fiber degeneration. | OMIM #254110; ClinVar |
| Bardet-Biedl syndrome 11 (BBS11) | Biallelic mutations disrupt ciliary function via impaired ubiquitination of ciliary proteins. | OMIM #615988; ClinVar |
| Sarcotubular myopathy | Specific TRIM32 mutations cause abnormal sarcoplasmic reticulum and T-tubule morphology. | OMIM #268920; NCBI Gene |
| Colorectal cancer | TRIM32 overexpression promotes tumor growth via ubiquitination and degradation of p53. | COSMIC; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 48.2 | High |
| Heart | 32.1 | Medium |
| Brain | 18.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.4 | Cervical cancer cell line |
| HepG2 | 15.8 | Hepatocellular carcinoma |
| A549 | 12.1 | Lung adenocarcinoma |
| SH-SY5Y | 19.3 | Neuroblastoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1459G>A (p.Asp487Asn) | Missense | Found in LGMD2H families | Loss of E3 ligase activity |
| c.1460A>G (p.Asp487Gly) | Missense | Found in BBS11 patients | Impaired substrate ubiquitination |
| c.1180C>T (p.Arg394Trp) | Missense | Rare | Reduced protein stability |
| c.1573C>T (p.Arg525*) | Nonsense | Reported in LGMD2H | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most LGMD2H and BBS11 mutations result in loss of E3 ubiquitin ligase activity, leading to accumulation of substrates and cellular dysfunction.
Gain of Function (GOF)
Not well established; some cancer-associated overexpression may confer oncogenic gain-of-function via enhanced p53 degradation.
Dominant Negative (DN)
Not reported for TRIM32; all known pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• p53 signaling pathway (KEGG: hsa04115)
• Ciliary assembly and transport
Protein Summary
TRIM32 is a 653-amino acid protein with an N-terminal RING finger domain (E3 ubiquitin ligase activity), two B-box domains, a coiled-coil region, and a C-terminal NHL repeat domain. It ubiquitinates diverse substrates including p53, actin, and ciliary proteins, thereby regulating cell proliferation, muscle integrity, and ciliary function. Subcellular localization is predominantly cytoplasmic and nuclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRIM32 Knockout HEK293 Cell Line | EDJ-KQ7754 | Human | 22954 | Details Get a Quote |
| TRIM32 Knockout A-549 Cell Line | EDJ-KQ33197 | Human | 22954 | Details Get a Quote |
| TRIM32 Knockout HCT 116 Cell Line | EDJ-KQ33198 | Human | 22954 | Details Get a Quote |
| TRIM32 Knockout HeLa Cell Line | EDJ-KQ33199 | Human | 22954 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
