H4C1 Gene: Function, Location, and Disease Associations | Biomedical Resource

H4C1 encodes histone H4, one of the five main histone proteins that package DNA into nucleosomes. Histone H4, along with H2A, H2B, and H3, forms the core of the nucleosome, the fundamental repeating unit of chromatin. H4C1 is a replication-dependent histone gene, expressed during S-phase and incorporated into newly synthesized chromatin. Post-translational modifications of H4, such as acetylation and methylation, play critical roles in gene regulation, DNA repair, and chromosome condensation. Mutations or aberrant expression of H4C1 have been linked to various cancers and developmental syndromes.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Packaging Of Telomere Ends

• Chromatin organization

• Senescence-Associated Secretory Phenotype (SASP)

Histone H4 is a highly conserved protein of 103 amino acids, featuring a globular histone fold domain and a flexible N-terminal tail. It forms a tetramer with histone H3, which is the core of the nucleosome. The N-terminal tail is subject to extensive post-translational modifications, including acetylation at lysine residues (e.g., K16) and methylation at arginine and lysine residues, which regulate chromatin dynamics and gene expression. H4 is essential for DNA packaging and chromosome integrity.