H3C12
Histone H3.1, a core component of nucleosomes involved in chromatin structure and gene regulation
Gene Information Card
| Symbol | H3C12 |
|---|---|
| Full Name | H3 clustered histone 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.2 |
| NCBI Gene ID | 8358 ncbi.nlm.nih.gov/gene/8358 |
| Ensembl ID | ENSG00000277775 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 4764 |
| Aliases | H3.1, H3C1, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H3C10, H3C11, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J |
Description
H3C12 is one of the replication-dependent histone H3 genes clustered on chromosome 6p22.2. It encodes histone H3.1, a core histone protein that forms the nucleosome octamer with histones H2A, H2B, and H4. Histone H3.1 is essential for chromatin packaging, DNA replication, and transcriptional regulation. Post-translational modifications of H3.1, such as methylation and acetylation, play critical roles in epigenetic signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Somatic mutations in H3F3A (H3.3) are common; H3C12 mutations are rare but may contribute to chromatin dysregulation | ClinVar, COSMIC |
| Pediatric high-grade glioma | Recurrent H3.3 mutations (K27M, G34R/V) are hallmark; H3C12 is not typically mutated in this context | COSMIC, literature |
| Cancer (general) | Altered histone expression and mutations in histone genes, including H3C12, can disrupt chromatin and promote tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 10.2 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.5 | Medium |
| Brain | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.0 | Leukemia cell line |
| HeLa | 12.4 | Cervical cancer cell line |
| HepG2 | 11.2 | Liver cancer cell line |
| A549 | 10.5 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83A>G (p.Lys28Arg) | Missense | <0.1% | Alters a key residue for methylation; potential epigenetic impact |
| c.245G>A (p.Arg82His) | Missense | <0.1% | Located in the histone fold domain; may affect nucleosome stability |
Mutation functional classification
Loss of Function (LOF)
Not well characterized for H3C12; loss of histone H3.1 may impair chromatin assembly and cell viability.
Gain of Function (GOF)
Not reported for H3C12; oncogenic gain-of-function mutations are more common in H3F3A (H3.3).
Dominant Negative (DN)
Not described for H3C12; dominant-negative effects are known for H3.3 K27M in gliomas.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chromatin organization (REACT:1788)
• Packaging Of Telomere Ends (REACT:1789)
• Formation of the beta-catenin:TCF transactivating complex (REACT:1790)
Protein Summary
Histone H3.1 (UniProt P68431) is a 136-amino acid core histone protein that forms the nucleosome octamer. It contains a histone-fold domain (residues 40-130) that mediates DNA binding and histone-histone interactions. Key post-translational modification sites include Lys9 (methylation), Lys27 (methylation), and Ser10 (phosphorylation). H3.1 is replication-dependent and expressed during S phase.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C12 Knockout HEK293 Cell Line | EDJ-KQ6208 | Human | 8356 | Details Get a Quote |
| H3C12 Knockout A-549 Cell Line | EDJ-KQ30044 | Human | 8356 | Details Get a Quote |
| H3C12 Knockout HCT 116 Cell Line | EDJ-KQ30045 | Human | 8356 | Details Get a Quote |
| H3C12 Knockout HeLa Cell Line | EDJ-KQ54876 | Human | 8356 | Details Get a Quote |
