TRAF7
Function
E3 ubiquitin and SUMO-protein ligase that plays a role in different biological processes such as innate immunity, inflammation or apoptosis (PubMed:15001576, PubMed:37086853). Potentiates MAP3K3-mediated activation of JUN/AP1 and DDIT3 transcriptional regulators (PubMed:14743216). Negatively regulates MYB transcriptional activity by sequestering it to the cytosol via SUMOylation (By similarity). Plays a role in the phosphorylation of MAPK1 and/or MAPK3, probably via its interaction with MAP3K3. Negatively regulates RLR-mediated innate immunity by promoting 'Lys-48'-linked ubiquitination of TBK1 through its RING domain to inhibit the cellular antiviral response (PubMed:37086853). Promotes 'Lys-29'-linked polyubiquitination of NEMO/IKBKG and RELA leading to targeting these two proteins to lysosomal degradative pathways, reducing the transcriptional activity of NF-kappa-B (PubMed:21518757).
Involvement in disease
Cardiac, facial, and digital anomalies with developmental delay
CAFDADD
An autosomal dominant disorder characterized by delayed motor and speech development, developmental regression, congenital heart defects, limb and digital anomalies, and dysmorphic features. Cardiac features include pulmonary stenosis, patent ductus arteriosus, aortic coarctation, valvular defects, hypoplastic left heart, double outlet right ventricle, and conduction abnormalities. Dysmorphic facial features include multiple hair whorls or hairline abnormalities, ptosis, epicanthal folds, and low-set or dysplastic ears.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
Phosphorylated by MAP3K3.
Ubiquitinates itself upon phosphorylation.
Sequence Similarities
Belongs to the WD repeat TRAF7 family.
Tissue Specificity
Ubiquitously expressed with high levels in skeletal muscle, heart, colon, spleen, kidney, liver and placenta.
Cellular localization
- Cytoplasmic vesicle
- Cytoplasm
- Nucleus
- Colocalizes with MAP3K3 to vesicle-like structures throughout the cytoplasm.
Alternative names
RFWD1, RNF119, TRAF7, E3 ubiquitin-protein ligase TRAF7, RING finger and WD repeat-containing protein 1, RING finger protein 119, RING-type E3 ubiquitin transferase TRAF7, TNF receptor-associated factor 7