H3C6: Histone H3.1 Cluster Member 6
A core histone gene involved in chromatin structure and epigenetic regulation.
Gene Information Card
| Symbol | H3C6 |
|---|---|
| Full Name | H3 clustered histone 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8352 ncbi.nlm.nih.gov/gene/8352 |
| Ensembl ID | ENSG00000277775 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 4766 |
| Aliases | H3.1, H3/a, H3FA, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J |
Description
H3C6 is a member of the histone H3 family, specifically encoding replication-dependent histone H3.1. Histones are basic nuclear proteins responsible for nucleosome structure, which compacts DNA into chromatin. H3.1 is incorporated into chromatin during DNA replication and is subject to various post-translational modifications (e.g., methylation, acetylation) that regulate gene expression, DNA repair, and chromosome condensation. Mutations in H3C6 and other H3 genes 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 missense mutations (e.g., K27M) in H3F3A and HIST1H3B/C lead to global hypomethylation and altered gene expression | COSMIC, ClinVar |
| Pediatric glioblastoma | Recurrent H3.1 K27M mutations drive tumorigenesis via epigenetic reprogramming | COSMIC, ClinVar |
| Chondroblastoma | H3.3 G34W/V mutations (not H3C6) are hallmark; H3C6 mutations rare but reported | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Bone marrow | 32.1 | High |
| Lymph node | 28.5 | High |
| Brain | 15.3 | Medium |
| Liver | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 52.4 | Cervical cancer cell line |
| K562 | 48.9 | Leukemia cell line |
| A549 | 35.2 | Lung cancer cell line |
| HEK293 | 30.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| K27M | Missense | Common in DIPG (15-20% of cases) | Dominant-negative effect on PRC2, reducing H3K27me3 |
| G34R/V | Missense | Rare in H3C6; more common in H3F3A | Alters H3K36 methylation landscape |
| A15T | Missense | Reported in COSMIC (frequency <0.1%) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; H3C6 loss-of-function is rare due to functional redundancy among H3 genes.
Gain of Function (GOF)
K27M mutation acts as a gain-of-function by inhibiting PRC2 activity, leading to global reduction of H3K27me3.
Dominant Negative (DN)
K27M is considered dominant-negative as it disrupts normal histone methylation in the presence of wild-type H3.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin silencing (GO:0006342) |
| • protein heterodimerization activity (GO:0046982) | • DNA binding (GO:0003677) |
| • nucleus (GO:0005634) |
Pathways
• Chromatin organization (REACT:1788)
• Epigenetic regulation of gene expression (REACT:1789)
• Packaging Of Telomere Ends (REACT:1790)
Protein Summary
Histone H3.1 encoded by H3C6 is a core component of the nucleosome, forming the octamer with histones H2A, H2B, and H4. It is highly conserved and expressed in a replication-dependent manner. Post-translational modifications at key residues (e.g., K27, K36, G34) regulate chromatin dynamics and gene expression. Mutations, particularly K27M, are oncogenic drivers in pediatric gliomas.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C6 Knockout HEK293 Cell Line | EDJ-KQ5502 | Human | 8353 | Details Get a Quote |
| H3C6 Knockout A-549 Cell Line | EDJ-KQ30043 | Human | 8353 | Details Get a Quote |
| H3C6 Knockout HeLa Cell Line | EDJ-KQ54873 | Human | 8353 | Details Get a Quote |
| H3C6 Knockout HCT 116 Cell Line | EDJ-KQ71829 | Human | 8353 | Details Get a Quote |
