SETD3
Description
The SETD3 (SET domain containing 3, actin N3(tau)-histidine methyltransferase) is a protein-coding gene located on chromosome 14.
SETD3 is a protein encoded by the SETD3 gene in humans. It functions as a methyltransferase and is involved in the replication of all enteroviruses. A mouse model lacking SETD3 expression exhibited resistance to enterovirus infection, suggesting a potential strategy for preventing diseases such as the common cold, myocarditis, aseptic meningitis, and polio. SETD3 can methylate the cytoskeletal protein actin at histidine residues. In patients with estrogen receptor-positive, luminal A-type breast cancer, high SETD3 expression correlates with better relapse-free survival. However, in patients lacking estrogen, progesterone, and HER2/neu receptor expression, or those with a p53 mutation, SETD3 expression is associated with poor relapse-free survival. Downregulation of SETD3 using small interfering RNA (siRNA) in triple-negative breast cancer cells inhibits cytoskeletal function and invasiveness.
SETD3 is a protein-histidine N-methyltransferase that specifically catalyzes the methylation of 3-methylhistidine (tele-methylhistidine) on actin at His-73. This methylation is essential for smooth muscle contraction during childbirth. SETD3 does not exhibit protein-lysine N-methyltransferase activity and likely only methylates histidine residues on actin.
SETD3 is also known as C14orf154, hSETD3.
Associated Diseases
- breast cancer
- spondyloepiphyseal dysplasia tarda
- isolated osteopoikilosis
- fibular hemimelia
- tibial hemimelia
- metaphyseal dysplasia, Braun-Tinschert type
- Eiken syndrome
