KDM3A
Description
The KDM3A (lysine demethylase 3A) is a protein-coding gene located on chromosome 2.
KDM3A is a protein encoded by the KDM3A gene in humans. It contains a jumonji C (JmjC) domain and is a zinc finger protein. KDM3A is involved in hormone-dependent transcriptional activation. It catalyzes the demethylation of H3K9me1 and H3K9me2 residues, requiring Fe(II) and α-Ketoglutarate as cofactors. Multiple transcript variants are produced by alternative splicing.
KDM3A is a histone demethylase that specifically removes methyl groups from lysine 9 (Lys-9) of histone H3, playing a key role in the histone code. It preferentially targets mono- and dimethylated H3 Lys-9, particularly dimethylated residues, with limited or no activity on trimethylated Lys-9. The demethylation process generates formaldehyde and succinate as byproducts. KDM3A is involved in hormone-dependent transcriptional activation, where it participates in recruiting androgen receptors to target genes. This results in demethylation of H3 Lys-9 and activation of gene expression. KDM3A also plays a role in spermatogenesis by regulating the expression of genes like PRM1 and TNP1, which are essential for the packaging and condensation of sperm chromatin. Additionally, it contributes to obesity resistance by controlling the expression of metabolic genes such as PPARA and UCP1.
KDM3A is also known as JHDM2A, JHMD2A, JMJD1, JMJD1A, TSGA.
Associated Diseases
- type 2 diabetes mellitus
- substance abuse
- prostate cancer
- breast cancer
- partial chromosome Y deletion
- male infertility with teratozoospermia due to single gene mutation
- cancer
