H3C3
H3 clustered histone 3
Gene Information Card
| Symbol | H3C3 |
|---|---|
| Full Name | H3 clustered histone 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p22.1 |
| NCBI Gene ID | 8352 ncbi.nlm.nih.gov/gene/8352 |
| Ensembl ID | ENSG00000276903 |
| UniProt ID | P68431 |
| OMIM ID | 602810 |
| HGNC ID | 4764 |
| Aliases | H3.1, H3C1, H3C2, H3C4, H3C6, H3C7, H3C8, H3C10, H3C11, H3C12, HIST1H3A, HIST1H3B, HIST1H3C, HIST1H3D, HIST1H3E, HIST1H3F, HIST1H3G, HIST1H3H, HIST1H3I, HIST1H3J |
Description
H3C3 is a member of the histone H3 family, encoding replication-dependent histone H3.1. Histones are basic nuclear proteins that form nucleosomes, the fundamental repeating units of chromatin. H3.1 is incorporated into chromatin during DNA replication and plays a critical role in packaging DNA into nucleosomes, regulating gene expression, and maintaining genome stability. Post-translational modifications of H3.1, such as methylation and acetylation, are key epigenetic marks that influence chromatin structure and transcriptional activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Somatic mutations in H3C3 (e.g., K27M, G34R/V) alter histone modification patterns, leading to global hypomethylation and aberrant gene expression, promoting oncogenesis. | COSMIC, ClinVar |
| Diffuse intrinsic pontine glioma (DIPG) | H3F3A K27M mutation is well-characterized; H3C3 mutations are less common but similar mechanisms may apply. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Testis | 8.5 | Medium |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 15.3 | Leukemia cell line |
| HeLa | 12.7 | Cervical cancer cell line |
| A549 | 10.1 | Lung cancer cell line |
| HEK293 | 9.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| K27M | Missense | <0.1% in DIPG | Alters H3K27me3, promotes tumorigenesis |
| G34R | Missense | <0.1% in pediatric glioblastoma | Affects H3K36me3, disrupts gene expression |
| G34V | Missense | <0.1% in bone tumors | Similar to G34R, alters epigenetic landscape |
Mutation functional classification
Loss of Function (LOF)
Not typically associated with loss-of-function; mutations are gain-of-function or dominant-negative.
Gain of Function (GOF)
K27M mutation leads to global reduction of H3K27me3 via inhibition of EZH2, acting as a gain-of-function in promoting oncogenic transcription.
Dominant Negative (DN)
K27M and G34R/V mutations act in a dominant-negative manner by disrupting normal histone modification patterns and chromatin structure.
View complete mutation data：
Gene Ontology (GO)
| • nucleosome assembly (GO:0006334) | • chromatin organization (GO:0006325) |
| • DNA binding (GO:0003677) | • protein heterodimerization activity (GO:0046982) |
| • nucleus (GO:0005634) | • nucleosome (GO:0000786) |
Pathways
• Chromatin organization
• Epigenetic regulation of gene expression
• Telomere maintenance
Protein Summary
Histone H3.1 is a core histone protein that forms the nucleosome octamer with histones H2A, H2B, and H4. It is essential for DNA packaging into chromatin and plays a central role in epigenetic regulation through post-translational modifications. H3.1 is replication-dependent and expressed during S phase. Mutations in H3C3, particularly at lysine 27 and glycine 34, are associated with pediatric gliomas and other cancers, altering histone methylation patterns and driving tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| H3C3 Knockout HEK293 Cell Line | EDJ-KQ6204 | Human | 8352 | Details Get a Quote |
| H3C3 Knockout A-549 Cell Line | EDJ-KQ30042 | Human | 8352 | Details Get a Quote |
| H3C3 Knockout HeLa Cell Line | EDJ-KQ54872 | Human | 8352 | Details Get a Quote |
| H3C3 Knockout HCT 116 Cell Line | EDJ-KQ71828 | Human | 8352 | Details Get a Quote |
