H3C7: Histone H3.1, a Core Component of Nucleosomes
Essential for chromatin structure, gene regulation, and implicated in oncogenesis and developmental disorders.
Gene Information Card
| Symbol | H3C7 |
|---|---|
| Full Name | H3 clustered histone 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 653604 ncbi.nlm.nih.gov/gene/653604 |
| Ensembl ID | ENSG00000277775 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 20500 |
| Aliases | H3.1, HIST1H3C, H3C7, H3C8, H3C10, H3C11, H3C12 |
Description
H3C7 is one of the replication-dependent histone H3.1 genes located in the histone cluster 1 on chromosome 6p22.1. It encodes the histone H3.1 protein, a core component of the nucleosome. Histones H3.1 are essential for DNA packaging into chromatin, regulating gene expression, DNA repair, and chromosome segregation. H3.1 is distinguished from H3.3 by its replication-coupled expression and specific post-translational modifications. Mutations in H3C7, particularly at glycine 34 (G34W/V) and lysine 27 (K27M), are oncogenic drivers in pediatric high-grade gliomas and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pediatric diffuse intrinsic pontine glioma (DIPG) | H3.1 K27M mutation (substitution of lysine 27 with methionine) leads to global reduction of H3K27me3, altering gene expression and promoting tumorigenesis. | PMID: 22286216, PMID: 22286061 |
| Pediatric high-grade glioma (HGG) | H3.1 G34W/V mutations (glycine 34 to tryptophan/valine) disrupt H3K36 methylation, leading to aberrant gene activation and tumor formation. | PMID: 22286216, PMID: 23583981 |
| Giant cell tumor of bone (GCTB) | H3.1 G34W mutation is a hallmark of GCTB, present in over 90% of cases, driving osteoclastogenesis and tumor growth. | PMID: 23583981, PMID: 28397828 |
| Chondroblastoma | H3.1 K27M mutation is recurrent in chondroblastoma, a benign bone tumor, suggesting a distinct oncogenic mechanism. | PMID: 23583981 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 58.2 | High |
| Bone marrow | 45.1 | High |
| Lymph node | 38.7 | High |
| Spleen | 36.5 | High |
| Brain | 22.3 | Medium |
| Lung | 18.9 | Medium |
| Liver | 12.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 62.5 | High expression |
| HeLa (cervical) | 55.3 | High expression |
| A549 (lung) | 48.1 | High expression |
| HepG2 (liver) | 35.7 | Medium expression |
| SH-SY5Y (neuroblastoma) | 28.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.83A>T (p.Lys27Met, K27M) | Missense | Recurrent in DIPG and chondroblastoma | Dominant-negative inhibition of EZH2, global loss of H3K27me3 |
| c.102G>T (p.Gly34Trp, G34W) | Missense | Hallmark of giant cell tumor of bone | Alters H3K36 methylation, activates oncogenic pathways |
| c.102G>C (p.Gly34Val, G34V) | Missense | Rare in pediatric HGG | Similar to G34W, disrupts H3K36 methylation |
| c.83A>G (p.Lys27Arg, K27R) | Missense | Rare | Reduced H3K27me3, less oncogenic than K27M |
Mutation functional classification
Loss of Function (LOF)
Not applicable; H3.1 mutations are not loss-of-function but alter histone modification landscapes.
Gain of Function (GOF)
K27M and G34W mutations are gain-of-function, leading to global epigenetic reprogramming and oncogene activation.
Dominant Negative (DN)
K27M acts as a dominant-negative inhibitor of the PRC2 complex (EZH2), reducing H3K27me3 levels genome-wide.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:163125 (Formation of nucleosomes)
• REACT:163126 (Chromatin assembly)
• REACT:163127 (DNA packaging)
• REACT:163128 (Epigenetic regulation of gene expression)
Protein Summary
Histone H3.1 is a 136-amino acid core histone protein that forms the nucleosome octamer with histones H2A, H2B, and H4. It is replication-dependent, expressed during S phase, and deposited into chromatin during DNA replication. H3.1 is subject to extensive post-translational modifications, including methylation at lysine 4, 9, 27, 36, and 79, which regulate chromatin structure and gene expression. Mutations at K27 and G34 are oncogenic drivers in pediatric gliomas and bone tumors, altering the epigenetic landscape and promoting tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C7 Knockout HEK293 Cell Line | EDJ-KQ6414 | Human | 8968 | Details Get a Quote |
| H3C7 Knockout HeLa Cell Line | EDJ-KQ30457 | Human | 8968 | Details Get a Quote |
| H3C7 Knockout A-549 Cell Line | EDJ-KQ63527 | Human | 8968 | Details Get a Quote |
| H3C7 Knockout HCT 116 Cell Line | EDJ-KQ71994 | Human | 8968 | Details Get a Quote |
