H3C15: Histone H3.1 Cluster Member 15
A replication-dependent histone gene encoding the core histone H3.1 protein, essential for nucleosome assembly and chromatin structure.
Gene Information Card
| Symbol | H3C15 |
|---|---|
| Full Name | H3 clustered histone 15 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8357 ncbi.nlm.nih.gov/gene/8357 |
| Ensembl ID | ENSG00000277775 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 20500 |
| Aliases | HIST1H3H, H3.1, H3C15 |
Description
H3C15 is a replication-dependent histone gene that encodes histone H3.1, a core component of the nucleosome. Histone H3.1 is essential for DNA packaging into chromatin and plays a critical role in gene regulation, DNA repair, and chromosome segregation. Mutations in H3C15 have been implicated in oncogenesis, particularly in pediatric brain tumors and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse intrinsic pontine glioma (DIPG) | Somatic mutations (e.g., K27M) in H3F3A and HIST1H3B/H3C15 alter histone methylation and gene expression, driving tumorigenesis. | PMID: 22286216, COSMIC |
| Pediatric glioblastoma | Recurrent H3.1 K27M mutations in H3C15 disrupt PRC2 activity and H3K27me3 marks. | PMID: 23583981, ClinVar |
| Chondroblastoma | H3F3B mutations (G34W) are characteristic; H3C15 mutations are rare but reported. | PMID: 23583982, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Bone marrow | 35.1 | High |
| Lymph node | 28.7 | Medium |
| Brain | 12.4 | Medium |
| Liver | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 52.3 | Cervical cancer cell line |
| K562 | 44.1 | Leukemia cell line |
| A549 | 38.7 | Lung cancer cell line |
| HEK293 | 30.2 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83A>T (p.Lys27Met) | Missense | <1% in general population; recurrent in DIPG | Dominant-negative effect on H3K27me3 |
| c.103G>A (p.Gly35Arg) | Missense | Rare | Alters histone fold domain; potential loss of function |
| c.1A>G (p.Met1Val) | Missense | Very rare | Start codon loss; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting start codon or histone fold domain may reduce histone incorporation into nucleosomes.
Gain of Function (GOF)
K27M mutation acts as a dominant inhibitor of EZH2, reducing global H3K27me3 and promoting oncogenic transcription.
Dominant Negative (DN)
K27M mutant histones incorporate into nucleosomes and block PRC2 activity, leading to loss of H3K27me3.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • DNA repair (GO:0006281) | • protein heterodimerization activity (GO:0046982) |
| • DNA binding (GO:0003677) |
Pathways
• Chromatin organization (REACT:1788)
• Packaging Of Telomere Ends (REACT:17015)
• PRC2 methylates histones and DNA (REACT:111102)
Protein Summary
Histone H3.1 encoded by H3C15 is a 136-amino acid core histone protein that forms the nucleosome octamer with H2A, H2B, and H4. It contains a histone-fold domain and a flexible N-terminal tail subject to post-translational modifications (e.g., methylation, acetylation) that regulate chromatin dynamics. The K27 residue is a critical site for polycomb repression; its mutation is oncogenic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C15 Knockout HEK293 Cell Line | EDJ-KQ13717 | Human | 333932 | Details Get a Quote |
| H3C15 Knockout A-549 Cell Line | EDJ-KQ43457 | Human | 333932 | Details Get a Quote |
| H3C15 Knockout HeLa Cell Line | EDJ-KQ43458 | Human | 333932 | Details Get a Quote |
| H3C15 Knockout HCT 116 Cell Line | EDJ-KQ76423 | Human | 333932 | Details Get a Quote |
